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403. Electrical interference from an abdominal muscle stimulator unit on an implantable cardioverter defibrillator: report of two consecutive cases.

Author

Wayar L, Mont L, Silva RMF, Alvarenga N, Fosch X, Castro J, and Brugada J

Abstract

Two consecutive cases are presented of patients with ICDs in whom the use of commercial units for muscle stimulation for abdominal training caused interference with the device, mimicked cardiac signals, and resulted in inappropriate treatment shock delivery. [ABSTRACT FROM AUTHOR]

Published
2003
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407. P111 SCN1Bb: a new susceptibly gene underlying LQT syndrome.

Author

Riuro, H, Campuzano, O, Beltran-Alvarez, P, Arbelo, E, Iglesias, A, Brugada, J, Perez, GJ, Scornik, F, and Brugada, R

Subjects
HEART cells, HEART diseases, GENETIC mutation, APPROXIMATION theory, LONG QT syndrome, ION channels, SODIUM channels
Abstract

Long QT Syndrome (LQTS) is a rare inherited cardiac disorder with a high risk of sudden cardiac death in a structurally normal heart. To date, pathogenic mutations have been described as responsible for approximately 70-75% of LQTS patients, mainly in ion channel genes. Mutations in genes encoding the sodium channel α subunit or other regulatory proteins, affecting cardiac sodium current, have been previously related to LQTS. Five sodium channel β subunits have been identified, which are encoded by four genes (SCN1B-4B). Pathogenic mutations in the SCN4B gene, but not in other β subunits, have been reported in LQTS. We tested whether mutations in SCN1B-4B could be responsible for LQTS in patients without mutations in the common LQTS-related genes.We screened for mutations in SCN1B-4B genes in 30 non-related patients clinically diagnosed with LQTS carrying no mutations in the major LQTS-related genes. The screening revealed a novel mutation in the SCN1B gene in an 8-year-old boy. The base change resulted in an amino acid variation from proline to threonine in the alternative C-terminus of the sodium channel β1 subunit (β1b).Using the patch clamp technique, we measured sodium current density, and Nav1.5 gaiting properties, in HEK cells transiently transfected with Nav1.5 and β1b subunits. Our electrophysiological analysis revealed that the mutant β1b altered Nav1.5 function by shifting the window current to negative potentials, increasing recovery from inactivation, decreasing slow inactivation, and increasing late sodium current. In addition, we recorded action potentials from mouse atrial cardiomyocytes, HL-1 cells, transfected with β1b subunits. These experiments revealed that the action potential duration significantly increased when the mutant β1b was overexpressed compared to β1bWT.These findings suggest that the mutation in β1b could explain the LQTS in our patient, revealing SCN1Bb as a new susceptibility gene for LQTS. Our results confirm the importance of sodium channel β subunits in the modulation of cardiac sodium channel. In addition, they highlight the need for further investigation to detect new candidate genes underlying the LQTS patients that currently remain without genetic diagnosis. [ABSTRACT FROM AUTHOR]

Published
2014
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408. Young Investigator Award session - Basic Science: Thursday 4 December 2014, 10:00-11:00 * Location: Agora

Author

Schmutzler, DC, Khanicheh, E, Xu, L, Mitterhuber, M, Glatz, K, Ellertsdottir, E, Kaufmann, BA, Bala, G, Blykers, A, Xavier, C, Gillis, K, Tierens, S, Descamps, B, Vanhove, C, Lahoutte, T, Cosyns, B, Hernot, S, Ferferieva, V, Deluyker, D, Arslan, T, Lambrichts, I, Rigo, JM, Bito, V, Sanz, M, Sitges, M, Bijnens, B, Rubies, C, Batlle, M, Mont, LL, Brugada, J, and Guasch, E

Abstract

Purpose: Cardiac tests for diagnosing myocarditis lack sensitivity or specificity. We hypothesized that contrast enhanced ultrasound molecular imaging (CEUMI) could detect endothelial inflammation and the recruitment of specific cellular components of the inflammatory response in murine myocarditis. Methods: Microbubbles (MB) bearing antibodies targeting lymphocyte CD4 (MBCD4), endothelial P-Selectin (MBPSel), MB with a control antibody (MBCtr) and MB with a negative electrical charge for targeting of leukocytes (MBN) were prepared. Attachment of MBCD4 was validated in vitro with murine spleen CD4+ lymphocytes. 20 mice were studied after induction of autoimmune myocarditis by immunisation with α-myosin-peptide, 20 mice served as controls. CEUMI of the heart was performed with MBCD4, MBPSel, MBN, and MBCtr. Left ventricular ejection fraction (LVEF) and circumferential strain (CS) were measured. A pathologist blinded to all other data graded the severity of myocarditis on a scale from 0 (no myocarditis) to 4 on histology. Animals were grouped into NM (no myocarditis), MM (moderate myocarditis, score 1-2) and SM (severe myocarditis, score 3-4). Results: In vitro, attachment of MBCD4 to CD4+ lymphocytes was significantly greater than MBCtr (p<0.01). LVEF did not differ between groups (NM 71 ± 13%, MM 73 ± 7%, SM 62 ± 20%, p=0.5), nor did CS (NM 36 ± 9%, MM 25 ± 11%, SM 30 ± 7%, p=0.4). CEUMI (figure) showed increased signal for targeted MB vs MBCtr in MM and SM, whereas signals in NM did not differ from MBCtr. Conclusions: CEUMI can detect endothelial inflammation and leukocyte infiltration in myocarditis, while functional imaging fails to do so. In particular, imaging of CD4+ lymphocytes involved in autoimmune responses in myocarditis is possible. CEUMI may be a powerful method for assessing myocarditis. Figure CEUMI in Myocarditis (mean ± SEM)

Published
2014
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409. 2012 HRS/EHRA/ECAS expert consensus statement on catheter and surgical ablation of atrial fibrillation: recommendations for patient selection, procedural techniques, patient management and follow-up, definitions, endpoints, and research trial design:...

Author

Calkins H, Kuck KH, Cappato R, Brugada J, Camm AJ, Chen SA, Crijns HJ, Damiano RJ Jr, Davies DW, Dimarco J, Edgerton J, Ellenbogen K, Ezekowitz MD, Haines DE, Haissaguerre M, Hindricks G, Iesaka Y, Jackman W, Jalife J, and Jais P

Published
2012
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414. To the editor.

Author

Green M, Gollob M, Sternick EB, Oliva A, Magalhaes LP, Gerken L, Hong K, Santana O, Brugada P, Brugada J, and Brugada R

Published
2006
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422. Poster session Thursday 12 December - AM: 12/12/2013, 08:30-12:30 * Location: Poster area

Author

Abdovic, E, Abdovic, S, Hristova, K, Hristova, K, Katova, TZ, Katova, TZ, Gocheva, N, Gocheva, N, Pavlova, M, Pavlova, M, Gurzun, M M, Ionescu, A, Canpolat, U, Yorgun, H, Sunman, H, Sahiner, L, Kaya, EB, Ozer, N, Tokgozoglu, L, Kabakci, G, Aytemir, K, Oto, A, Gonella, A, Dascenzo, F, Casasso, F, Conte, E, Margaria, F, Grosso Marra, W, Frea, S, Morello, M, Bobbio, M, Gaita, F, Seo, HY, Lee, SP, Lee, JM, Yoon, YE, Park, E, Kim, HK, Park, SJ, Lee, H, Kim, YJ, Sohn, DW, Nemes, A, Domsik, P, Kalapos, A, Orosz, A, Lengyel, C, Forster, T, Enache, R, Muraru, D, Popescu, BA, Calin, A, Nastase, O, Botezatu, D, Purcarea, F, Rosca, M, Beladan, CC, Ginghina, C, Canpolat, U, Aytemir, K, Ozer, N, Yorgun, H, Sahiner, L, Kaya, EB, Oto, A, Trial, Turkish Atrial Fibrosis, Muraru, D, Piasentini, E, Mihaila, S, Padayattil Jose, S, Peluso, D, Ucci, L, Naso, P, Puma, L, Iliceto, S, Badano, LP, Cikes, M, Jakus, N, Sutherland, GR, Haemers, P, Dhooge, J, Claus, P, Yurdakul, S, Oner, FATMA, Direskeneli, HANER, Sahin, TAYLAN, Cengiz, BETUL, Ercan, G, Bozkurt, AYSEN, Aytekin, SAIDE, Osa Saez, A M, Rodriguez-Serrano, M, Lopez-Vilella, R, Buendia-Fuentes, F, Domingo-Valero, D, Quesada-Carmona, A, Miro-Palau, VE, Arnau-Vives, MA, Palencia-Perez, M, Rueda-Soriano, J, Lipczynska, M, Piotr Szymanski, PS, Anna Klisiewicz, AK, Lukasz Mazurkiewicz, LM, Piotr Hoffman, PH, Kim, KH, Cho, SK, Ahn, Y, Jeong, MH, Cho, JG, Park, JC, Chinali, M, Franceschini, A, Matteucci, MC, Doyon, A, Esposito, C, Del Pasqua, A, Rinelli, G, Schaefer, F, group, the 4C study, Kowalik, E, Klisiewicz, A, Rybicka, J, Szymanski, P, Biernacka, EK, Hoffman, P, Lee, S, Kim, W, Yun, H, Jung, L, Kim, E, Ko, J, Ruddox, V, Norum, IB, Edvardsen, T, Baekkevar, M, Otterstad, JE, Erdei, T, Edwards, J, Braim, D, Yousef, Z, Fraser, AG, Cardiff, Investigators, MEDIA, Melcher, A, Reiner, B, Hansen, A, Strandberg, LE, Caidahl, K, Wellnhofer, E, Kriatselis, C, Gerd-Li, H, Furundzija, V, Thnabalasingam, U, Fleck, E, Graefe, M, Park, YJ, Moon, JG, Ahn, TH, Baydar, O, Kadriye Kilickesmez, KK, Ugur Coskun, UC, Polat Canbolat, PC, Veysel Oktay, VO, Umit Yasar Sinan, US, Okay Abaci, OA, Cuneyt Kocas, CK, Sinan Uner, SU, Serdar Kucukoglu, SK, Ferferieva, V, Claus, P, Rademakers, F, Dhooge, J, Le, T T, Wong, P, Tee, N, Huang, F, Tan, RS, Altman, M, Logeart, D, Bergerot, C, Gellen, B, Pare, C, Gerard, S, Sirol, M, Vicaut, E, Mercadier, JJ, Derumeaux, G A, investigators, PREGICA, Park, T-H, Park, J-I, Shin, S-W, Yun, S-H, Lee, J-E, Makavos, G, Kouris, N, Keramida, K, Dagre, A, Ntarladimas, I, Kostopoulos, V, Damaskos, D, Olympios, CD, Leong, DP, Piers, SRD, Hoogslag, GE, Hoke, U, Thijssen, J, Ajmone Marsan, N, Schalij, MJ, Bax, JJ, Zeppenfeld, K, Delgado, V, Rio, P, Branco, L, Galrinho, A, Cacela, D, Abreu, J, Timoteo, A, Teixeira, P, Pereira-Da-Silva, T, Selas, M, Cruz Ferreira, R, Popa, B A, Zamfir, L, Novelli, E, Lanzillo, G, Karazanishvili, L, Musica, G, Stelian, E, Benea, D, Diena, M, Cerin, G, Fusini, L, Mirea, O, Tamborini, G, Muratori, M, Gripari, P, Ghulam Ali, S, Cefalu, C, Maffessanti, F, Andreini, D, Pepi, M, Mamdoo, F, Goncalves, A, Peters, F, Matioda, H, Govender, S, Dos Santos, C, Essop, MR, Kuznetsov, V A, Yaroslavskaya, E I, Pushkarev, G S, Krinochkin, D V, Kolunin, G V, Bennadji, A, Hascoet, S, Dulac, Y, Hadeed, K, Peyre, M, Ricco, L, Clement, L, Acar, P, Ding, WH, Zhao, Y, Lindqvist, P, Nilson, J, Winter, R, Holmgren, A, Ruck, A, Henein, MY, Illatopa, V, Cordova, F, Espinoza, D, Ortega, J, Cavalcante, JL, Patel, MT, Katz, W, Schindler, J, Crock, F, Khanna, MK, Khandhar, S, Tsuruta, H, Kohsaka, S, Murata, M, Yasuda, R, Tokuda, H, Kawamura, A, Maekawa, Y, Hayashida, K, Fukuda, K, Le Tourneau, T, Kyndt, F, Lecointe, S, Duval, D, Rimbert, A, Merot, J, Trochu, JN, Probst, V, Le Marec, H, Schott, JJ, Veronesi, F, Addetia, K, Corsi, C, Lamberti, C, Lang, RM, Mor-Avi, V, Gjerdalen, G F, Hisdal, J, Solberg, EE, Andersen, TE, Radunovic, Z, Steine, K, Maffessanti, F, Gripari, P, Tamborini, G, Muratori, M, Fusini, L, Ferrari, C, Caiani, EG, Alamanni, F, Bartorelli, AL, Pepi, M, Dascenzi, F, Cameli, M, Iadanza, A, Lisi, M, Reccia, R, Curci, V, Sinicropi, G, Henein, M, Pierli, C, Mondillo, S, Rekhraj, S, Hoole, SP, Mcnab, DC, Densem, CG, Boyd, J, Parker, K, Shapiro, LM, Rana, BS, Kotrc, M, Vandendriessche, T, Bartunek, J, Claeys, MJ, Vanderheyden, M, Paelinck, B, De Bock, D, De Maeyer, C, Vrints, C, Penicka, M, Silveira, C, Albuquerque, ESA, Lamprea, DL, Larangeiras, VL, Moreira, CRPM, Victor Filho, MVF, Alencar, BMA, Silveira, AQMS, Castillo, JMDC, Zambon, E, Iorio, A, Carriere, C, Pantano, A, Barbati, G, Bobbo, M, Abate, E, Pinamonti, B, Di Lenarda, A, Sinagra, G, Salemi, V M C, Tavares, L, Ferreira Filho, JCA, Oliveira, AM, Pessoa, FG, Ramires, F, Fernandes, F, Mady, C, Cavarretta, E, Lotrionte, M, Abbate, A, Mezzaroma, E, De Marco, E, Peruzzi, M, Loperfido, F, Biondi-Zoccai, G, Frati, G, Palazzoni, G, Park, T-H, Lee, J-E, Lee, D-H, Park, J-S, Park, K, Kim, M-H, Kim, Y-D, Van T Sant, J, Gathier, WA, Leenders, GE, Meine, M, Doevendans, PA, Cramer, MJ, Poyhonen, P, Kivisto, S, Holmstrom, M, Hanninen, H, Schnell, F, Betancur, J, Daudin, M, Simon, A, Carre, F, Tavard, F, Hernandez, A, Garreau, M, Donal, E, Calore, C, Muraru, D, Badano, LP, Melacini, P, Mihaila, S, Denas, G, Naso, P, Casablanca, S, Santi, F, Iliceto, S, Aggeli, C, Venieri, E, Felekos, I, Anastasakis, A, Ritsatos, K, Kakiouzi, V, Kastellanos, S, Cutajar, I, Stefanadis, C, Palecek, T, Honzikova, J, Poupetova, H, Vlaskova, H, Kuchynka, P, Linhart, A, Elmasry, O, Mohamed, MH, Elguindy, WM, Bishara, PNI, Garcia-Gonzalez, P, Cozar-Santiago, P, Bochard-Villanueva, B, Fabregat-Andres, O, Cubillos-Arango, A, Valle-Munoz, A, Ferrer-Rebolleda, J, Paya-Serrano, R, Estornell-Erill, J, Ridocci-Soriano, F, Jensen, M, Havndrup, O, Christiansen, M, Andersen, PS, Axelsson, A, Kober, L, Bundgaard, H, Karapinar, H, Kaya, A, Uysal, EB, Guven, AS, Kucukdurmaz, Z, Oflaz, MB, Deveci, K, Sancakdar, E, Gul, I, Yilmaz, A, Tigen, M K, Karaahmet, T, Dundar, C, Yalcinsoy, M, Tasar, O, Bulut, M, Takir, M, Akkaya, E, Jedrzejewska, I, Braksator, W, Krol, W, Swiatowiec, A, Dluzniewski, M, Lipari, P, Bonapace, S, Zenari, L, Valbusa, F, Rossi, A, Lanzoni, L, Molon, G, Canali, G, Campopiano, E, Barbieri, E, Rueda Calle, E, Alfaro Rubio, F, Gomez Gonzalez, J, Gonzalez Santos, P, Cameli, M, Lisi, M, Focardi, M, Dascenzi, F, Solari, M, Galderisi, M, Mondillo, S, Pratali, L, Bruno, R M, Corciu, AI, Comassi, M, Passera, M, Gastaldelli, A, Mrakic-Sposta, S, Vezzoli, A, Picano, E, Perry, R, Penhall, A, De Pasquale, C, Selvanayagam, J, Joseph, M, Simova, I I, Katova, T M, Kostova, V, Hristova, K, Lalov, I, Dascenzi, F, Pelliccia, A, Natali, BM, Cameli, M, Alvino, F, Zorzi, A, Corrado, D, Bonifazi, M, Mondillo, S, Rees, E, Rakebrandt, F, Rees, DA, Halcox, JP, Fraser, AG, Odriscoll, J, Lau, N, Perez-Lopez, M, Sharma, R, Lichodziejewska, B, Goliszek, S, Kurnicka, K, Kostrubiec, M, Dzikowska Diduch, O, Krupa, M, Grudzka, K, Ciurzynski, M, Palczewski, P, Pruszczyk, P, Gheorghe, LL, Castillo Ortiz, J, Del Pozo Contreras, R, Calle Perez, G, Sancho Jaldon, M, Cabeza Lainez, P, Vazquez Garcia, R, Fernandez Garcia, P, Chueca Gonzalez, E, Arana Granados, R, Zhao, XX, Xu, XD, Bai, Y, Qin, YW, Leren, IS, Hasselberg, NE, Saberniak, J, Leren, TP, Edvardsen, T, Haugaa, KH, Daraban, A M, Sutherland, GR, Claus, P, Werner, B, Gewillig, M, Voigt, JU, Santoro, A, Ierano, P, De Stefano, F, Esposito, R, De Palma, D, Ippolito, R, Tufano, A, Galderisi, M, Costa, R, Fischer, C, Rodrigues, A, Monaco, C, Lira Filho, E, Vieira, M, Cordovil, A, Oliveira, E, Mohry, S, Gaudron, P, Niemann, M, Herrmann, S, Strotmann, J, Beer, M, Hu, K, Bijnens, B, Ertl, G, Weidemann, F, Baktir, AO, Sarli, B, Cicek, M, Karakas, MS, Saglam, H, Arinc, H, Akil, MA, Kaya, H, Ertas, F, Bilik, MZ, Yildiz, A, Oylumlu, M, Acet, H, Aydin, M, Yuksel, M, Alan, S, Odriscoll, J, Gravina, A, Di Fino, S, Thompson, M, Karthigelasingham, A, Ray, K, Sharma, R, De Chiara, B, Russo, CF, Alloni, M, Belli, O, Spano, F, Botta, L, Palmieri, B, Martinelli, L, Giannattasio, C, Moreo, A, Mateescu, AD, La Carrubba, S, Vriz, O, Di Bello, V, Carerj, S, Zito, C, Ginghina, C, Popescu, BA, Nicolosi, GL, Antonini-Canterin, F, Malev, E, Omelchenko, M, Vasina, L, Luneva, E, Zemtsovsky, E, Cikes, M, Velagic, V, Gasparovic, H, Kopjar, T, Colak, Z, Hlupic, LJ, Biocina, B, Milicic, D, Tomaszewski, A, Kutarski, A, Poterala, M, Tomaszewski, M, Brzozowski, W, Kijima, Y, Akagi, T, Nakagawa, K, Ikeda, M, Watanabe, N, Ueoka, A, Takaya, Y, Oe, H, Toh, N, Ito, H, Bochard Villanueva, B, Paya-Serrano, R, Fabregat-Andres, O, Garcia-Gonzalez, P, Perez-Bosca, JL, Cubillos-Arango, A, Chacon-Hernandez, N, Higueras-Ortega, L, De La Espriella-Juan, R, Ridocci-Soriano, F, Noack, T, Mukherjee, C, Ionasec, RI, Voigt, I, Kiefer, P, Hoebartner, M, Misfeld, M, Mohr, F-W, Seeburger, J, Daraban, A M, Baltussen, L, Amzulescu, MS, Bogaert, J, Jassens, S, Voigt, JU, Duchateau, N, Giraldeau, G, Gabrielli, L, Penela, D, Evertz, R, Mont, L, Brugada, J, Berruezo, A, Bijnens, BH, Sitges, M, Yoshikawa, H, Suzuki, M, Hashimoto, G, Kusunose, Y, Otsuka, T, Nakamura, M, Sugi, K, Ruiz Ortiz, M, Mesa, D, Romo, E, Delgado, M, Seoane, T, Martin, M, Carrasco, F, Lopez Granados, A, Arizon, JM, Suarez De Lezo, J, Magalhaes, A, Cortez-Dias, N, Silva, D, Menezes, M, Saraiva, M, Santos, L, Costa, A, Costa, L, Nunes Diogo, A, Fiuza, M, Ren, B, De Groot-De Laat, LE, Mcghie, J, Vletter, WB, Geleijnse, ML, Toda, H, Oe, H, Osawa, K, Miyoshi, T, Ugawa, S, Toh, N, Nakamura, K, Kohno, K, Morita, H, Ito, H, El Ghannudi, S, Germain, P, Samet, H, Jeung, M, Roy, C, Gangi, A, Orii, M, Hirata, K, Yamano, T, Tanimoto, T, Ino, Y, Yamaguchi, T, Kubo, T, Imanishi, T, Akasaka, T, Sunbul, M, Kivrak, T, Oguz, M, Ozguven, S, Gungor, S, Dede, F, Turoglu, HT, Yildizeli, B, Mutlu, B, Mihaila, S, Muraru, D, Piasentini, E, Peluso, D, Cucchini, U, Casablanca, S, Naso, P, Iliceto, S, Vinereanu, D, Badano, LP, Rodriguez Munoz, DA, Moya Mur, JL, Becker Filho, D, Gonzalez, A, Casas Rojo, E, Garcia Martin, A, Recio Vazquez, M, Rincon, LM, Fernandez Golfin, C, Zamorano Gomez, JL, Ledakowicz-Polak, A, Polak, L, Zielinska, M, Kamiyama, T, Nakade, T, Nakamura, Y, Ando, T, Kirimura, M, Inoue, Y, Sasaki, O, Nishioka, T, Farouk, H, Sakr, B, Elchilali, K, Said, K, Sorour, K, Salah, H, Mahmoud, G, Casanova Rodriguez, C, Cano Carrizal, R, Iglesias Del Valle, D, Martin Penato Molina, A, Garcia Garcia, A, Prieto Moriche, E, Alvarez Rubio, J, De Juan Bagua, J, Tejero Romero, C, Plaza Perez, I, Korlou, P, Stefanidis, A, Mpikakis, N, Ikonomidis, I, Anastasiadis, S, Komninos, K, Nikoloudi, P, Margos, P, and Pentzeridis, P

Abstract

Purpose: Atrial fibrillation (AF) is the most prevalent sustained arrhythmia. It is a disease of the elderly and it is common in patients (pts) with structural heart disease. Hypertension (HA), hypertensive heart disease (HHD), diabetes mellitus (DM), coronary artery disease (CAD), heart failure (HF), and valvular heart disease (VHD) are recognized predisposing factors to AF. Objectives: To echocardiographicly disclose the most common predisposing morbidities to AF in our population sample. Methods: From June 2000 to February 2013, 3755 consecutive pts with AF were studied during echocardiographic check-up. According to transthoracic echo, pts were divided in groups based on dominative underlying heart diseases. Electrocardiographically documented AF was subdivided in two groups: transitory and chronic. Transitory AF fulfilled criteria for paroxysmal or persistent AF. Chronic AF were cases of long-standing persistent or permanent AF. Results: The median age was 72 years, age range between 16 and 96 years. There were 51.4% of females. Chronic AF was observed in 68.3% pts. Distribution of underlying heart diseases is shown in figure. Lone AF was diagnosed in only 25 pts, mostly in younger males (median age 48 years, range 29–59, men 80%). Chronic AF was predominant in groups with advanced cardiac remodeling such as dilatative cardiomyopaty (DCM) and VHD, mostly in elderly. HA and DM were found in 75.4% and 18.8%, respectively. Almost 1/2 of pts with AF had HF and 59.2% had diastolic HF. Conclusion: Up to now, echocardiographic categorization of the predisposing factors to AF was not reported. Echocardiographic evaluation of patients with AF could facilitate in identification and well-timed treatment of predisposing comorbidites. Figure Etiological distribution of AF

Published
2013
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423. Poster Session Saturday 14 December - AM: 14/12/2013, 08:30-12:30 * Location: Poster area

Author

Muraru, D, Addetia, K, Veronesi, F, Corsi, C, Mor-Avi, V, Yamat, M, Weinert, L, Lang, RM, Badano, LP, Faita, F, Di Lascio, N, Bruno, RM, Bianchini, E, Ghiadoni, L, Sicari, R, Gemignani, V, Angelis, A, Ageli, K, Ioakimidis, N, Chrysohoou, C, Agelakas, A, Felekos, I, Vaina, S, Aznaourides, K, Vlachopoulos, C, Stefanadis, C, Nemes, A, Szolnoky, G, Gavaller, H, Gonczy, A, Kemeny, L, Forster, T, Ramalho, A, Placido, R, Marta, L, Menezes, M, Magalhaes, A, Cortez Dias, N, Martins, S, Almeida, A, Pinto, F, Nunes Diogo, A, Botezatu, C-D, Enache, R, Popescu, BA, Nastase, O, Coman, MC, Ghiorghiu, I, Calin, A, Rosca, M, Beladan, C, Ginghina, C, Grapsa, J, Cabrita, IZ, Durighel, G, Oregan, D, Dawson, D, Nihoyannopoulos, P, Pellicori, P, Kallvikbacka-Bennett, A, Zhang, J, Lukaschuk, E, Joseph, A, Bourantas, C, Loh, H, Bragadeesh, T, Clark, A, Cleland, JG, Kallvikbacka-Bennett, A, Pellicori, P, Lomax, S, Putzu, P, Diercx, R, Parsons, S, Dicken, B, Zhang, J, Clark, A, Cleland, JG, Vered, Z, Adirevitz, L, Dragu, R, Blatt, A, Karev, E, Malca, Y, Roytvarf, A, Marek, D, Sovova, E, Berkova, M, Cihalik, C, Taborsky, M, Lindqvist, P, Tossavainen, ERIK, Soderberg, S, Gonzales, M, Gustavsson, S, Henein, MY, Sonne, C, Bott-Fluegel, L, Hauck, S, Lesevic, H, Hadamitzky, M, Wolf, P, Kolb, C, Bandera, F, Pellegrino, M, Generati, G, Donghi, V, Alfonzetti, E, Castelvecchio, S, Menicanti, L, Guazzi, M, Buchyte, S, Rinkuniene, D, Jurkevicius, R, Smarz, K, Zaborska, B, Jaxa-Chamiec, T, Maciejewski, P, Budaj, A, Santoro, A, Federico Alvino, FA, Giovanni Antonelli, GA, Roberta Molle, RM, Matteo Bertini, MB, Stefano Lunghetti, SL, Sergio Mondillo, SM, Henri, C, Magne, J, Dulgheru, R, Laaraibi, S, Voilliot, D, Kou, S, Pierard, L, Lancellotti, P, Szulik, M, Stabryla-Deska, J, Kalinowski, M, Sliwinska, A, Szymala, M, Lenarczyk, R, Kalarus, Z, Kukulski, T, Investigators, TRUST CRT, Yiangou, K, Azina, C, Yiangou, A, Ioannides, M, Chimonides, S, Baysal, S, Pirat, B, Okyay, K, Bal, U, Muderrisoglu, H, Popovic, D, Ostojic, M, Petrovic, M, Vujisic-Tesic, B, Arandjelovic, A, Petrovic, I, Banovic, M, Popovic, B, Vukcevic, V, Damjanovic, S, Velasco Del Castillo, S, Onaindia Gandarias, JJ, Arana Achaga, X, Laraudogoitia Zaldumbide, E, Rodriguez Sanchez, I, Cacicedo De Bobadilla, A, Romero Pereiro, A, Aguirre Larracoechea, U, Salinas, T, Subinas, A, Elzbieciak, M, Wita, K, Grabka, M, Chmurawa, J, Doruchowska, A, Turski, M, Filipecki, A, Wybraniec, M, Mizia-Stec, K, Varho, VV, Karjalainen, PP, Lehtinen, T, Airaksinen, JKE, Ylitalo, A, Kiviniemi, TO, Gargiulo, P, Galderisi, M, D Amore, C, Lo Iudice, F, Savarese, G, Casaretti, L, Pellegrino, AM, Fabiani, I, La Mura, L, Perrone Filardi, P, Kim, J Y, Chung, WB, Yu, JS, Choi, YS, Park, CS, Youn, HJ, Lee, MY, Nagy, AI, Manouras, A, Gunyeli, E, Gustafsson, U, Shahgaldi, K, Winter, R, Johnsson, J, Zagatina, A, Krylova, L, Zhuravskaya, N, Vareldzyan, Y, Tyurina, TV, Clitsenko, O, Khalifa, E A, Ashour, Z, Elnagar, W, Jung, IH, Seo, HS, Lee, SJ, Lim, DS, Mizariene, V, Verseckaite, R, Janenaite, J, Jonkaitiene, R, Jurkevicius, R, Sanchez Espino, AD, Bonaque Gonzalez, JC, Merchan Ortega, G, Bolivar Herrera, N, Ikuta, I, Macancela Quinones, JJ, Gomez Recio, M, Silva Fazendas Adame, P R, Caldeira, D, Stuart, B, Almeida, S, Cruz, I, Ferreira, A, Freire, G, Lopes, L, Cotrim, C, Pereira, H, Mediratta, A, Addetia, K, Moss, JD, Nayak, HM, Yamat, M, Weinert, L, Mor-Avi, V, Lang, RM, Al Amri, I, Debonnaire, P, Van Der Kley, F, Schalij, MJ, Bax, JJ, Ajmone Marsan, N, Delgado, V, Schmidt, F P, Gniewosz, T, Jabs, A, Munzel, T, Jansen, T, Kaempfner, D, Hink, U, Von Bardeleben, RS, Jose, J, George, OK, Joseph, G, Jose, J, Adawi, S, Najjar, R, Ahronson, D, Shiran, A, Van Riel, ACMJ, Boerlage - Van Dijk, K, De Bruin - Bon, HACM, Araki, M, Meregalli, PG, Koch, KT, Vis, MM, Mulder, BJM, Baan, J, Bouma, BJ, Marciniak, A, Elton, D, Glover, K, Campbell, I, Sharma, R, Batalha, S, Lourenco, C, Oliveira Da Silva, C, Manouras, A, Shahgaldi, K, Caballero, L, Garcia-Lara, J, Gonzalez-Carrillo, J, Oliva, MJ, Saura, D, Garcia-Navarro, M, Espinosa, MD, Pinar, E, Valdes, M, De La Morena, G, Barreiro Perez, M, Lopez Perez, M, Roy, D, Brecker, S, Sharma, R, Venkateshvaran, A, Dash, P K, Sola, S, Barooah, B, Govind, S C, Winter, R, Shahgaldi, K, Brodin, L A, Manouras, A, Saura Espin, D, Caballero Jimenez, L, Gonzalez Carrillo, J, Oliva Sandoval, MJ, Lopez Ruiz, M, Garcia Navarro, M, Espinosa Garcia, MD, Valdes Chavarri, M, De La Morena Valenzuela, G, Gatti, G, Dellangela, L, Pinamonti, B, Benussi, B, Sinagra, G, Pappalardo, A, Group, Heart Muscle Disease Study, Hernandez, V, Saavedra, J, Gonzalez, A, Iglesias, P, Civantos, S, Guijarro, G, Monereo, S, Ikeda, M, Toh, N, Oe, H, Tanabe, Y, Watanabe, N, Ito, H, Ciampi, Q, Cortigiani, L, Pratali, L, Rigo, F, Villari, B, Picano, E, Sicari, R, Yoon, JH, Sohn, JW, Kim, YJ, Chang, HJ, Hong, GR, Kim, TH, Ha, JW, Choi, BW, Rim, SJ, Choi, EY, Tibazarwa, K, Sliwa, K, Wonkam, A, Mayosi, BM, Oryshchyn, N, Ivaniv, Y, Pavlyk, S, Lourenco, M R, Azevedo, O, Moutinho, J, Nogueira, I, Fernandes, M, Pereira, V, Quelhas, I, Lourenco, A, Sunbul, M, Tigen, K, Karaahmet, T, Dundar, C, Ozben, B, Guler, A, Cincin, A, Bulut, M, Sari, I, Basaran, Y, Baydar, O, Kadriye Kilickesmez, KK, Ugur Coskun, UC, Polat Canbolat, PC, Veysel Oktay, VO, Umit Yasar Sinan, US, Okay Abaci, OA, Cuneyt Kocas, CK, Sinan Uner, SU, Serdar Kucukoglu, SK, Zaroui, A, Mourali, MS, Ben Said, R, Asmi, M, Aloui, H, Kaabachi, N, Mechmeche, R, Saberniak, J, Hasselberg, NE, Borgquist, R, Platonov, PG, Holst, AG, Edvardsen, T, Haugaa, KH, Lourenco, M R, Azevedo, O, Nogueira, I, Moutinho, J, Fernandes, M, Pereira, V, Quelhas, I, Lourenco, A, Eran, A, Yueksel, D, Er, F, Gassanov, N, Rosenkranz, S, Baldus, S, Guedelhoefer, H, Faust, M, Caglayan, E, Matveeva, N, Nartsissova, G, Chernjavskij, A, Ippolito, R, De Palma, D, Muscariello, R, Santoro, C, Raia, R, Schiano-Lomoriello, V, Gargiulo, F, Galderisi, M, Lipari, P, Bonapace, S, Zenari, L, Valbusa, F, Rossi, A, Lanzoni, L, Canali, G, Molon, G, Campopiano, E, Barbieri, E, Ikonomidis, I, Varoudi, M, Papadavid, E, Theodoropoulos, K, Papadakis, I, Pavlidis, G, Triantafyllidi, H, Anastasiou - Nana, M, Rigopoulos, D, Lekakis, J, Sunbul, M, Tigen, K, Ozen, G, Durmus, E, Kivrak, T, Cincin, A, Ozben, B, Atas, H, Direskeneli, H, Basaran, Y, Stevanovic, A, Dekleva, M, Trajic, S, Paunovic, N, Simic, A, Khan, SG, Mushemi-Blake, S, Jouhra, F, Dennes, W, Monaghan, M, Melikian, N, Shah, AM, Division, Cardiovascular, Excellence, King’s BHF Centre of, Maceira Gonzalez, A M, Lopez-Lereu, MP, Monmeneu, JV, Igual, B, Estornell, J, Boraita, A, Kosmala, W, Rojek, A, Bialy, D, Mysiak, A, Przewlocka-Kosmala, M, Popescu, I, Mancas, S, Mornos, C, Serbescu, I, Ionescu, G, Ionac, A, Gaudron, P, Niemann, M, Herrmann, S, Hu, K, Liu, D, Wojciech, K, Frantz, S, Bijnens, B, Ertl, G, Weidemann, F, Maceira Gonzalez, A M, Cosin-Sales, J, Ruvira, J, Diago, JL, Aguilar, J, Igual, B, Lopez-Lereu, MP, Monmeneu, J, Estornell, J, Cruz, C, Pinho, T, Madureira, AJ, Lebreiro, A, Dias, CC, Ramos, I, Silva Cardoso, J, Julia Maciel, M, De Meester, P, Van De Bruaene, A, Herijgers, P, Voigt, J-U, Budts, W, Franzoso, F, Voser, EM, Wohlmut, C, Kellenberger, CJ, Valsangiacomo Buechel, E, Carrero, C, Benger, J, Parcerisa, MF, Falconi, M, Oberti, PF, Granja, M, Cagide, AM, Del Pasqua, A, Secinaro, A, Antonelli, G, Iacomino, M, Toscano, A, Chinali, M, Esposito, C, Carotti, A, Pongiglione, G, Rinelli, G, Youssef Moustafa, A, Al Murayeh, M, Al Masswary, A, Al Sheikh, K, Moselhy, M, Dardir, MD, Deising, J, Butz, T, Suermeci, G, Liebeton, J, Wennemann, R, Tzikas, S, Van Bracht, M, Prull, MW, Trappe, H-J, Martin Hidalgo, M, Delgado Ortega, M, Ruiz Ortiz, M, Mesa Rubio, D, Carrasco Avalos, F, Seoane Garcia, T, Pan Alvarez-Ossorio, M, Lopez Aguilera, J, Puentes Chiachio, M, Suarez De Lezo Cruz Conde, J, Petrovic, M T, Giga, V, Stepanovic, J, Tesic, M, Jovanovic, I, Djordjevic-Dikic, A, Generati, G, Pellegrino, M, Bandera, F, Donghi, V, Alfonzetti, E, Guazzi, M, Piatkowski, R, Kochanowski, J, Scislo, P, Opolski, G, Zagatina, A, Zhuravskaya, N, Krylova, L, Vareldzhyan, Y, Tyurina, TV, Clitsenko, O, Bombardini, T, Gherardi, S, Leone, O, Picano, E, Michelotto, E, Ciccarone, A, Tarantino, N, Ostuni, V, Rubino, M, Genco, W, Santoro, G, Carretta, D, Romito, R, Colonna, P, foundation, Cassa di Risparmio di Puglia, Cameli, M, Lunghetti, S, Lisi, M, Curci, V, Cameli, P, Focardi, M, Favilli, R, Galderisi, M, Mondillo, S, Hoffmann, R, Barletta, G, Von Bardeleben, S, Kasprzak, J, Greis, C, Vanoverschelde, J, Becher, H, Machida, T, Izumo, M, Suzuki, K, Kaimijima, R, Mizukoshi, K, Manabe-Uematsu, M, Takai, M, Harada, T, Akashi, YJ, Medicine., St. Marianna University School of, Cardiology, Division of, Martin Garcia, A, Arribas-Jimenez, A, Cruz-Gonzalez, I, Nieto, F, Iscar, A, Merchan, S, Martin-Luengo, C, Brecht, A, Theres, L, Spethmann, S, Dreger, H, Baumann, G, Knebel, F, Jasaityte, R, Heyde, B, Rademakers, F, Claus, P, Dhooge, J, Lervik Nilsen, L C, Lund, J, Brekke, B, Stoylen, A, Giraldeau, G, Duchateau, N, Gabrielli, L, Penela, D, Evertz, R, Mont, L, Brugada, J, Berruezo, A, Bijnens, BH, Sitges, M, Kordybach, M, Kowalski, M, Hoffman, P, Pilichowska, E, Zaborska, B, Baran, J, Kulakowski, P, Budaj, A, Wahi, S, Vollbon, W, Leano, R, Thomas, A, Bricknell, K, Holland, D, Napier, S, Stanton, T, Teferici, D, Qirko, S, Petrela, E, Dibra, A, Bajraktari, G, Bara, P, Sanchis Ruiz, L, Gabrielli, L, Andrea, R, Falces, C, Duchateau, N, Perez-Villa, F, Bijnens, B, Sitges, M, Sulemane, S, Panoulas, VF, Bratsas, AH, Tam, FW, Nihoyannopoulos, P, Abduch, MCD, Alencar, AM, Coracin, FL, Barban, A, Saboya, R, Dulley, FL, Mathias, W, Vieira, MLC, Buccheri, S, Mangiafico, S, Arcidiacono, A, Bottari, VE, Leggio, S, Tamburino, C, Monte, I P, Cruz, C, Lebreiro, A, Pinho, T, Dias, CC, Silva Cardoso, J, Julia Maciel, M, Spitzer, E, Beitzke, D, Kaneider, A, Pavo, N, Gottsauner-Wolf, M, Wolf, F, Loewe, C, Mushtaq, S, Andreini, D, Pontone, G, Bertella, E, Conte, E, Baggiano, A, Annoni, A, Cortinovis, S, Fiorentini, C, Pepi, M, Gustafsson, M, Alehagen, U, Dahlstrom, U, Johansson, P, Faden, G, Faggiano, P, Albertini, L, Reverberi, C, Gaibazzi, N, Taylor, R J, Moody, WE, Umar, F, Edwards, NC, Townend, JN, Steeds, RP, Leyva, F, Mihaila, S, Muraru, D, Piasentini, E, Peluso, D, Casablanca, S, Naso, P, Puma, L, Iliceto, S, Vinereanu, D, Badano, LP, Ciciarello, F L, Agati, L, Cimino, S, De Luca, L, Petronilli, V, Fedele, F, and Tsverava, M

Abstract

Purpose: Transthoracic 3D echocardiography (3DE) allows an unparalleled opportunity for quantifying the dynamic changes of the tricuspid annulus (TA). Accordingly, our aims were: (I) to assess the determinants of TA size during cardiac cycle in healthy subjects; (II) to propose an approach and timing for TA sizing using 3DE. Methods: In 50 healthy volunteers (45±14 yrs, range 18-74, 27 males, with no risk factors, symptoms, signs or history of cardiovascular disease and on no medication), a full-volume dataset of the right ventricle (RV) containing the tricuspid valve (TV) was acquired (Vivid E9, GE Healthcare). TA diameters (septo-lateral, SL; antero-posterior, AP) and areas were measured on multiplanar images (Flexi-slice, EchoPac BT12, GE Healthcare) at 5 time points during the cardiac cycle: OS (onset of systole, at TV closure); MS (mid-systole); ES (end-systole); ED (onset of diastole); LD (late diastole, after the P wave). RV volumes and ejection fraction (EF) were analyzed with commercial software (4D RV analysis, TomTec, D). Results: Temporal resolution of the 3D datasets was 32±4 vps (range 24-53). TA areas were more closely correlated with RV volumes and body surface area (BSA) than with either SL or AP diameters. TA areas increased during systole from OS (3.9±0.6 cm2/m2) to ES (4.9±0.8 cm2/m2) and reached its largest area in LD (6.7±1.0 cm2/m2). All 5 TA areas were correlated with BSA (r range 0.57-0.62) and RV volumes (r ranges 0.53-0.60 for end-diastolic volume and 0.43-0.50 for end-systolic volume, p<0.0001 for all). Indexed TA areas were not related to either age or gender. With multivariable analysis, both RV end-diastolic volume and BSA determined TA areas during systole and early diastole, while TA area at LD and at OS were independently related with BSA only. Conclusions: In healthy subjects, the main determinants of TA size are RV volume and BSA. The largest TA area occurs at LD and is independently related with BSA only. Therefore, normative values should be based on TA areas measured at LD and indexed for BSA. However, the rapid change in TA areas occurring from LD to OS underscores the importance of adequate temporal resolution of 3DE data sets for reliable TA measurements.

Published
2013
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424. Poster session Friday 13 December - AM: 13/12/2013, 08:30-12:30 * Location: Poster area

Author

Gertsen, M, Nemes, A, Szolnoky, G, Altmayer, A, Gavaller, H, Kemeny, L, Forster, T, Park, J R, Jo, SY, Kim, KH, Kho, JS, Kwack, CH, Hwang, JY, Popovic, D, Ostojic, MC, Petrovic, M, Vujisic-Tesic, B, Arandjelovic, A, Banovic, M, Vukcevic, V, Petrovic, I, Popovic, B, Damjanovic, S, Placido, R, Marta, L, Ramalho, AR, Nobre Menezes, M, Cortez-Dias, N, Martins, S, Goncalves, S, Almeida, AG, Silva-Marques, J, Nunes-Diogo, A, Germanakis, I, Kakouri, P, Karachaliou, M, Vassilaki, M, Chatzi, L, Roumeliotaki, T, Kogevinas, M, Horst, J-P, Kelter-Kloepping, A, Koerperich, H, Barth, P, Haas, NA, Kececioglu, D, Laser, KT, Laser, KT, Horst, J-P, Kelter-Kloepping, A, Barth, P, Haas, NA, Kececioglu, D, Koerperich, H, Samiei, N, Nabati, M, Azari-Jafari, M, Vakili-Zarch, A, Parsaee, M, Haghjoo, M, Ahmed, A J, Val-Mejias, J E, Von Bulow, F M, Baltussen, E J M, Darban, AM, Claus, P, Voigt, JU, Rodriguez Munoz, DA, Moya Mur, JL, Gonzalez, A, Garcia Martin, A, Becker Filho, D, Fernandez Santos, S, Lazaro Rivera, C, Recio Vazquez, M, Fernandez Golfin, C, Zamorano Gomez, JL, Bandera, F, Pellegrino, M, Generati, G, Alfonzetti, E, Donghi, V, Castelvecchio, S, Garatti, A, Menicanti, L, Guazzi, M, Kowalik, E, Klisiewicz, A, Hoffman, P, Kim, EJ, Cho, I J, Oh, J, Chang, HJ, Park, J, Shin, S, Shim, CY, Hong, GR, Ha, JW, Chung, N, Park, JH, Lee, HS, Kim, HS, Ahn, KT, Kim, JH, Lee, JH, Choi, SW, Jeong, JO, Seong, IW, Holzendorf, V, Gelbrich, G, Wachter, R, Loeffler, M, Pieske, BM, Broda, A, Edelmann, F, Failure, German Competence Network for Heart, Kim, YH, Kim, DH, Kim, SH, Ahn, JC, Song, WH, Hashimoto, G, Suzuki, M, Yoshikawa, H, Otsuka, T, Kusunose, Y, Nakamura, M, Sugi, K, De Knegt, M C, Biering-Sorensen, T, Sogaard, P, Sivertsen, J, Jensen, JS, Mogelvang, R, Murbraech, K, Smeland, KH, Holte, H, Loge, JH, Kiserud, CE, Aakhus, S, Peteiro, J, Gargallo-Fernandez, P, Garcia-Guimaraes, M, Bouzas-Mosquera, A, Yanez-Wronenburger, JC, Martinez-Ruiz, D, Castro-Beiras, A, Trzcinski, PT, Jaskowski, MJ, Nowak, JN, Pawlus, MP, Figiel, LF, Kasprzak, JDK, Lipiec, PL, Zhong, L, Su, Y, Teo, SK, Le, TT, Tan, RS, Tesic, M, Djordjevic-Dikic, A, Giga, V, Jovanovic, I, Paunovic, I, Petrovic, MT, Trifunovic, D, Beleslin, B, Stepanovic, J, Vujisic-Tesic, B, Parato, V M, Partemi, M, Nardini, E, Pasanisi, E, Park, T-H, Lee, J-E, Lee, D-H, Park, J-S, Park, K, Kim, M-H, Kim, Y-D, Vegsundvag, J, Holte, E, Wiseth, R, Hegbom, K, Hole, T, Fusini, L, Tamborini, G, Ghulam Ali, S, Muratori, M, Gripari, P, Cefalu, C, Maffessanti, F, Celeste, F, Alamanni, F, Pepi, M, Negrea, SL, Alexandrescu, C, Rossi, P, Iacuzio, L, Dreyfus, G, Moatemri, F, Mahdhaoui, A, Bouraoui, H, Ernez, S, Jeridi, G, Yuan, L, Feng, JL, Jin, X Y, Seoane Garcia, T, Delgado Ortega, M, Mesa Rubio, D, Ruiz Ortiz, M, Martin Hidalgo, M, Carrasco Avalos, F, Casares Mediavilla, J, Alados, P, Lopez Granados, A, Suarez De Lezo Cruz Conde, J, Mutuberria Urdaniz, M, Rodriguez-Palomares, JF, Baneras-Rius, JF, Acosta-Velez, JG, Buera-Surribas, I, Gonzalez-Alujas, MT, Teixido, G, Evangelista, A, Tornos, P, Garcia-Dorado, D, Iliuta, L, Boerlage-Van Dijk, K, Van Riel, ACMJ, De Bruin-Bon, HACM, Wiegerinck, EMA, Koch, KT, Vis, MM, Meregalli, PG, Piek, JJ, Bouma, BJ, Baan, J, Enache, R, Muraru, D, Piazza, R, Popescu, BA, Coman, M, Calin, A, Rosca, M, Beladan, CC, Nicolosi, GL, Ginghina, C, Song, JM, Kim, JJ, Ha, TY, Jung, SH, Hwang, IS, Lee, IC, Sun, BJ, Kim, DH, Kang, DH, Song, JK, Sturmberger, T, Ebner, CE, Aichinger, J, Tkalec, W, Niel, J, Steringer-Mascherbauer, R, Kabicher, G, Winter, S, Nesser, HJ, Hofmann-Bowman, M, Lin Yan, LY, Puri, TP, Chin, C W L, Doris, M, Shah, A, Mills, N, Semple, S, Prasad, S, White, A, Dweck, M, Newby, D, Debonnaire, P, Al Amri, I, Leong, DP, Joyce, E, Katsanos, S, Kamperidis, V, Schalij, MJ, Bax, JJ, Ajmone Marsan, N, Delgado, V, Cerin, G, Popa, B A, Lanzillo, G, Benea, D, Karazanishvili, L, Diena, M, Dedobbeleer, C, Schnell, F, Jotrand, E, El Mourad, M, Thebault, C, Plein, D, Donal, E, Unger, P, Spampinato, RA, Tasca, M, Da Rocha E Silva, JG, Strotdrees, E, Schloma, V, Dmitrieva, Y, Mende, M, Borger, MA, Mohr, FW, Veronesi, F, Muraru, D, Addetia, K, Corsi, C, Lamberti, C, Lang, RM, Mor-Avi, V, Badano, LP, Zemanek, D, Tomasov, P, Belehrad, M, Kara, T, Veselka, J, Igual Munoz, B, Estornell Erill, JORDI, Maceira Gonzalez Alicia, AMG, Monmeneu Menadas, JVMM, Lopez Lereu Pilar, PLL, Molina Aguilar, PMA, Domingo-Valero, DDV, Osca Asensi, JOA, Zorio Grima, EZG, Salvador Sanz Antonio, ASS, Ibrahimi, P, Bajraktari, G, Poniku, A, Hysenaj, V, Ahmeti, A, Jashari, F, Haliti, E, Henein, MY, Maramao, F, Conde, Y, Maramao, L, Rulli, F, Roussin, I, Drakopoulou, M, Bhattacharyya, S, Simpkin, V, Sharma, R, Rosen, S, Prasad, S, Senior, R, Lyon, AR, Kimura, K, Tanimoto, T, Akasaka, T, Fijalkowski, M, Jaguszewski, M, Fijalkowska, M, Nowak, R, Galaska, R, Rojek, A, Narkiewicz, K, Rynkiewicz, A, Azevedo, O, Marques, N, Cruz, I, Picarra, B, Lima, R, Amado, J, Pereira, V, Almeida, AR, SUNSHINE, Zito, C, Crea, P, Cusma Piccione, M, Vriz, O, Bitto, A, Minisini, R, Madaffari, A, Acri, E, Oteri, A, Carerj, S, Leggio, S, Buccheri, S, Tamburino, C, Monte, I P, Mihalcea, D, Florescu, M, Enescu, OA, Magda, LS, Radu, E, Acasandrei, AM, Balanescu, P, Rimbas, RC, Jinga, D, Vinereanu, D, 112/2011, Research grant, Miyoshi, T, Tanaka, H, Kaneko, A, Matsumoto, K, Imanishi, J, Motoji, Y, Mochizuki, Y, Minami, H, Kawai, H, Hirata, K, Ryu, SK, Shin, DG, Son, JW, Choi, JH, Goh, CW, Choi, JW, Park, JY, Hong, GR, Le Page, P, Mitchell, ARJ, Maclachlan, HI, Hurry, RW, Villagraz Tecedor, L, Jimenez Lopez Guarch, C, Alonso Chaterina, S, Mayordomo Gomez, S, Blazquez Arrollo, L, Lombera Romero, F, Lopez Melgar, B, Escribano Subias, MP, Lichodziejewska, B, Kurnicka, K, Goliszek, S, Kostrubiec, M, Dzikowska Diduch, O, Krupa, M, Grudzka, K, Ciurzynski, M, Palczewski, P, Pruszczyk, P, Lovric, D, Carmona, C, Bergerot, C, Schnell, F, Thibault, H, Barthelet, M, Ninet, J, Revel, D, Croisille, P, Derumeaux, G, Jensen, MT, Rossing, P, Sogaard, P, Andersen, HU, Bech, J, Hansen, TF, Gustafsson, I, Galatius, S, Jensen, JS, Shang, Q, Zhang, Q, Sanderson, JE, Tam, LS, Lee, A PW, Fang, F, Li, E KM, Yu, CM, Bruin De- Bon, HACM, Tan, HL, Hardziyenka, M, Symersky, P, Bonta, PI, Brink Van Den, RBA, Bouma, BJ, Bader, RS, Punn, R, Silverman, N, Cruz, C, Pinho, T, Lebreiro, A, Dias, CC, Silva Cardoso, J, Julia Maciel, M, Melao, F, Ribeiro, V, Cruz, C, Maciel, MJ, Attenhofer Jost, C H, Schmidt, D, Pfyffer, M, Biaggi, P, Seifert, B, Weber, R, De Pasquale, G, Kretschmar, O, Seeliger, T, Greutmann, M, Johansson, M C, Mirzada, N, Ladenvall, P, Besiroglu, F, Samadov, F, Atas, H, Sari, I, Tufekcioglu, O, Birincioglu, CL, Acar, B, Duman, I, Colak, A, Zagatina, A, Krylova, L, Zhuravskaya, N, Vareldzhyan, Y, Tyurina, TV, Clitsenko, O, Castro, M, Dores, H, Carvalho, MS, Reis, C, Horta, E, Trabulo, MS, Andrade, MJ, Mendes, M, Gasior, Z, Plonska-Gosciniak, E, Wita, K, Mizia-Stec, K, Kulach, A, Szwed, H, Chrzanowski, L, Tomaszewski, A, Sinkiewicz, W, Wojciechowska, C, Aggeli, C, Felekos, I, Stergiou, P, Roussakis, G, Kakiouzi, V, Kastellanos, S, Koutagiar, I, Stefanadis, C, Bouzas Mosquera, A, Peteiro, J, Alvarez-Garcia, N, Broullon, FJ, Garcia-Guimaraes, MM, Martinez-Ruiz, D, Yanez-Wonenburger, JC, Bouzas-Zubeldia, B, Fabregas, R, Castro-Beiras, A, Brugger, N, Huerzeler, M, Wustmann, K, Wahl, A, Steck, H, Seiler, C, Sarwar, R, Malhotra, A, Wong, KC, Betts, TR, Bashir, Y, Rajappan, K, Newton, JD, Casanova Rodriguez, C, Cano Carrizal, R, Iglesias Del Valle, D, Martin Penato Molina, A, Garcia Garcia, A, Prieto Moriche, E, Alvarez Rubio, J, Paredes Gonzalez, B, De Juan Baguda, J, Plaza Perez, I, Van Den Oord, SCH, Akkus, Z, Roeters Van Lennep, JE, Bosch, JG, Van Der Steen, AFW, Sijbrands, EJG, Schinkel, AFL, Muraru, D, Calore, C, Badano, LP, Melacini, C, Mihaila, S, Peluso, D, Puma, L, Kocabay, G, Rizzon, G, Iliceto, S, Bochard Villanueva, B, Paya-Serrano, R, Garcia-Gonzalez, P, Fabregat-Andres, O, Perez-Bosca, JL, Cubillos-Arango, A, Ferrando-Beltran, M, Chacon-Hernandez, N, Albiach-Montanana, C, Ridocci-Soriano, F, Ancona, R, Comenale Pinto, S, Caso, P, Arenga, F, Coppola, MG, Calabro, R, Tarr, A, Stoebe, S, Pfeiffer, D, Hagendorff, A, Hollekim, SM, Bjorgaas, MR, Tjonna, AE, Wisloff, U, Ingul, CB, (CERG), Cardiac Exercise Research Group, Oreto, L, Zito, C, Cusma-Piccione, M, Calabro, MP, Todaro, MC, Vita, GL, Messina, S, Vita, G, Sframeli, M, Carerj, S, Remoli, R, Lamberti, F, Bellini, C, Mercurio, M, Dottori, S, Bellusci, F, Mazzuca, V, Gaspardone, A, Rimbas, RC, Enescu, OA, Mihaila, S, Ciobanu, A, Vinereanu, D, Henri, C, Magne, J, Dulgheru, R, Laaraibi, S, Voilliot, D, Kou, S, Pierard, L, Lancellotti, P, Wellnhofer, E, Kriatselis, C, Gerds-Li, H, Furundzija, VESNA, Thanabalasingam, U, Fleck, E, Graefe, M, Kouris, N, Keramida, K, Karidas, V, Kostopoulos, V, Kostakou, P, Mprempos, G, Olympios, CD, Duchateau, N, Giraldeau, G, Gabrielli, L, Penela, D, Evertz, R, Mont, L, Brugada, J, Berruezo, A, Bijnens, BH, Sitges, M, Bernard, A, Donal, E, Reynaud, A, Schnell, F, Daubert, JC, Leclercq, C, Hernandez, A, Keramida, K, Kouris, N, Kostopoulos, V, Karidas, V, Dagre, A, Ntarladimas, I, Damaskos, D, Stamatelatou, M, Olympios, CD, Panetta, G L, Peraldo Neja, C, Urbano Moral, JA, Evangelista, A, Azzolini, P, Gaudio, C, Pandian, NG, Barbier, P, Mirea, O, Savioli, G, Cefalu, C, Guglielmo, M, Fusini, L, Maltagliati, A, Hamdy, AM, Fereig, HM, Nabih, MA, Abdel-Aziz, A, Ali, AA, Buccheri, S, Mangiafico, S, Leggio, S, B, VE, Tropea, L, Tamburino, C, Monte, I P, Garcia-Gonzalez, P, Chacon-Hernandez, N, Cozar-Santiago, P, Fabregat-Andres, O, Sanchez-Jurado, R, Higueras-Ortega, L, Albiach-Motanana, C, Perez-Bosca, JL, Paya-Serrano, R, Ridocci-Soriano, F, Flori, M, Valette, F, Guijarro, D, Pallardy, A, Le Tourneau, T, Kraeber-Bodere, F, Piriou, N, Saxena, A, Ramakrishnan, S, Tulunay Kaya, C, Ongun, A, Kilickap, M, Candemir, B, Altin, AT, Gerede, M, Ozcan, OU, Erol, C, Yue, WS, Yang, F, Huang, D, Gu, P, Luo, Y, Lv, Z, Siu, CW, Tse, HF, Yiu, KH, Saura Espin, D, Lopez Cuenca, A, Espinosa Garcia, MD, Oliva Sandoval, MJ, Lopez Ruiz, M, Gonzalez Carrillo, J, Garcia Navarro, MJ, Valdes Chavarri, M, De La Morena Valenzuela, G, Gustafsson, U, Spuhler, JH, Hoffman, J, Brodin, LÅ, Kisko, A, Dernarova, L, Hudakova, A, Santova, T, Jakubikova, M, Mikulak, M, Horlenko, O, Kishko, N, Svystak, V, Shyp, A, Faden, G, Gaibazzi, N, Rigo, F, Mureddu, GF, Moreo, A, Bussadori, G, Facchetti, R, Cesana, F, Giannattasio, C, Faggiano, P, and group, APRES collaborative

Abstract

Pulmonary vascular dysfunction is claimed to be a contributor to the development of pulmonary hypertension (PH). Impaired systemic vascular reactivity is one of the essential factors in the pathogenesis of cardiovascular disease. The aim of the investigation was to study whether there is any association between systemic vascular function and pulmonary artery pressure (PAP) in patients who have associated causes for PH development, such as coronary heart disease (CHD) and chronic obstructive pulmonary disease (COPD). Methods: The brachial artery vasodilator responses were measured by the ultrasound technique in twenty patients with mild to moderate COPD (group I) and twenty age–matched and COPD stage-matched patients who had past history of myocardial infarction (NYHA II) (group II).Conventional echocardiographic variables were measured in the said patients too. Results: Both flow-mediated dilatation (FMD) and nitrate-mediated dilatation (NMD) were significantly lower, and PAP was significantly higher in the group II patients compared to the same parameters of group I patients. NMD was inversely correlated with PAP (r=-0.7, p=0.02) in group I patients. There was no interrelation between FMD and PAP in patients from group I. Neither FMD nor NMD were correlated with PAP in group II patients. A significant positive correlation between PAP and left ventricular mass index (r=0.8, p=0.003) was revealed in the said patients as well. Conclusions: Attenuated vasodilator response of brachial artery to nitroglycerine is associated with PAP elevation in COPD patients. PH is closely related to cardiac remodeling in COPD patients in whom CHD developed. These data suggest different "stages" of vascular and cardiac remodeling in patients with COPD alone and in coexistence with CHD. The obtained data can be useful in the selection of treatment as regards these patient categories.

Published
2013
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425. Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach

Author

Jordà, Paloma, Toro, Rocío, Diez, Carles, Salazar-Mendiguchía, Joel, Fernandez-Falgueras, Anna, Perez-Serra, Alexandra, Coll, Monica, Puigmulé, Marta, Arbelo, Elena, García-Álvarez, Ana, Sarquella-Brugada, Georgia, Cesar, Sergi, Tiron, Coloma, Iglesias, Anna, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar, [Jordà,P, Arbelo,E, García-Álvarez,A, Brugada,J] Cardiology Department, Hospital Clinic, University of Barcelona-IDIBAPS, Barcelona, Spain. [Toro,R] Medicine Department, School of Medicine, University of Cadiz, Cadiz, Spain. [Toro,R] Biomedical Research and Innovation Institute of Cadiz (INiBICA), Cadiz, Spain. [Diez,C, Salazar-Mendiguchía,J] Cardiovascular Diseases Research Group Bellvitge Biomedical Research Institute (IDIBELL) Hospitalet de Llobregat, Barcelona, Spain. [Diez,C] Advanced Heart Failure and Heart Transplant Unit Department of Cardiology Bellvitge University Hospital Hospitalet de Llobregat, Barcelona, Spain. [Fernandez-Falgueras,A, Perez-Serra,A, Coll,M, Puigmulé,M, Iglesias,A, Brugada,R, Campuzano,O] Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain. [Perez-Serra,A, Brugada,J, Campuzano,O] Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain. [Sarquella-Brugada,G, Cesar,S, Campuzano,O] Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain. [Sarquella-Brugada,G, Campuzano,O] Medical Science Department, School of Medicine, University of Girona, Girona, Spain. [Tiron,C, Brugada,R] Cardiology Service, Hospital Josep Trueta, University of Girona, Girona, Spain., and This work was supported by Obra Social 'La Caixa Foundation' (LCF/PR/GN16/50290001 and LCF/PR/GN19/50320002), Fondo Investigacion Sanitaria (FIS PI16/01203 and FIS, PI17/01690) from Instituto Salud Carlos III (ISCIII), and 'Fundacio Privada Daniel Bravo Andreu'. CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness.

Subjects
RBM20, Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings], Anatomy::Musculoskeletal System::Muscles [Medical Subject Headings], Dilated cardiomyopathy, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nucleoproteins::RNA-Binding Proteins [Medical Subject Headings], Supresión genética, Genética, Arritmias cardíacas, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Sudden cardiac death, Cardiomiopatía dilatada, Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::RNA Processing, Post-Transcriptional::RNA Splicing [Medical Subject Headings], Muerte súbita cardíaca, Diseases::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies [Medical Subject Headings], Genetics, Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::RNA Processing, Post-Transcriptional::RNA Splicing::Alternative Splicing [Medical Subject Headings], Arrhythmia
Abstract

The RBM20 gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in RBM20 have been reported in the last ten years, being found to be associated with highly arrhythmogenic events in familial dilated cardiomyopathy. Frequently, malignant arrhythmias can be a primary manifestation of disease. The early recognition of arrhythmic genotypes is crucial in avoiding lethal episodes, as it may have an impact on the adoption of personalized preventive measures. Our study performs a comprehensive update of data concerning rare variants in RBM20 that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine. Yes

Published
2021

426. Comparison of benefits and mortality in cardiac resynchronization therapy in patients with atrial fibrillation versus patients in sinus rhythm (results of the Spanish Atrial Fibrillation and Resynchronization [SPARE] Study)

Author

Tolosana JM, Hernandez Madrid A, Brugada J, Sitges M, Garcia Bolao I, Fernandez Lozano I, Martinez Ferrer J, Quesada A, Macias A, Marin W, Escudier JM, Gomez AA, Gimenez Alcala M, Tamborero D, Berruezo A, Mont L, and SPARE Investigators

Published
2008
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427. Differential atrial performance at rest and exercise in athletes: Potential trigger for developing atrial dysfunction?

Author

Gabrielli, L., Bijnens, B. H., Brambila, C., Duchateau, N., Marin, J., Sitges‐Serra, I., Mont, L., Brugada, J., and Sitges, M.

Subjects
*ANALYSIS of variance, *ATHLETES, *ATRIAL arrhythmias, *COMPARATIVE studies, *STATISTICAL correlation, *ECHOCARDIOGRAPHY, *EXERCISE, *HEART atrium, *PROBABILITY theory, *RESEARCH funding, *STATISTICS, *T-test (Statistics), *DATA analysis, *INTER-observer reliability, *CROSS-sectional method, *DATA analysis software, *DESCRIPTIVE statistics, *MANN Whitney U Test, RESEARCH evaluation
Abstract

Highly trained athletes show an increased risk of atrial arrhythmias. Little is known about atrial volumes and function during exercise in this population. Our aim was to analyze atrial size and contractile function during exercise. Fifty endurance athletes with 11 ± 8 h of training per week and 30 sedentary control subjects were included. Echocardiography was performed at baseline and during exercise. Left ( LA) and right atrial ( RA) size and function were assessed by two-dimensional echocardiography. Peak negative strain (Sa) during atrial contraction and active atrial emptying volume ( AEV) were measured. Athletes and control subjects showed a significant increment of deformation and AEV of both atria with exercise ( P < 0.01 vs baseline for LA and RA). Among athletes, a subgroup with significant LA ( n = 8)/ RA ( n = 15) dilatation (≥40 mL/m2) showed a significantly lower increment in AEV with exercise ( LA∆ AEV: 1.4 ± 1.1 mL/m2 vs 2.1 ± 0.9 mL/m2, P = 0.04; RA∆ AEV: 0.9 ± 0.8 mL/m2 vs 2.3 ± 1.1 mL/m2, P < 0.01) and lower increment in deformation vs other athletes ( LA∆Sa: −3.2 ± 2.9% vs −9.5 ± 4.4%, P < 0.01; RA∆Sa: −2.5 ± 3.3% vs. −9.8 ± 3.3%, P < 0.01). During exercise, active atrial strain increases, but less in athletes compared to controls, but due to larger atrial volumes, they reached similar increases in atrial emptying volume. However, this overall lesser deformation increases from a subgroup with significant atrial dilatation showing impairment in atrial contractile reserve. [ABSTRACT FROM AUTHOR]

Published
2016
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428. Genome-wide association analyses identify novel Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Author

Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y., Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J., Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O., Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D., Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Martins, Raphaël P., Campuzano, Oscar, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K., Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Krapels, Ingrid P., Steinfurt, Johannes, Winkel, Bo Gregers, Jabbari, Reza, Shoemaker, Moore B., Boukens, Bas J., Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico, Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, Strauch, Konstantin, Peters, Annette, Schulz, Holger, Schwettmann, Lars, Leidl, Reiner, Heier, Margit, Veldink, Jan H., van den Berg, Leonard H., Van Damme, Philip, Cusi, Daniele, Lanzani, Chiara, Rigade, Sidwell, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, London, Barry, Tfelt-Hansen, Jacob, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Guicheney, Pascale, Maury, Philippe, Schulze-Bahr, Eric, Robyns, Tomas, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, Defaye, Pascal, Anselme, Frédéric, Darmon, Jean Philippe, Wiart, François, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Brugada, Josep, Mabo, Philippe, Behar, Nathalie, Giustetto, Carla, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Crotti, Lia, McKeown, Pascal P., Sharma, Sanjay, Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Remme, Carol A., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., Gourraud, Jean-Baptiste, Tanck, Michael W., George, Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, Bezzina, Connie R., KORA-Study Group, Nantes Referral Ctr Inherited Card, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] (CRCTB), Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Santé - François Bonamy, Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche en Santé de l'Université de Nantes (IRS-UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Amsterdam UMC - Amsterdam University Medical Center, The MINE study (J.H.V.) has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation program (grant agreement no. 772376—EScORIAL). The collaboration project is cofunded by the PPP Allowance made available by Health~Holland, Top Sector Life Sciences & Health, to stimulate public–private partnerships. This study makes use of data generated by the Wellcome Trust Case-Control Consortium. A full list of the investigators who contributed to the generation of the data is available from www.wtccc.org.uk. Funding for the project was provided by the Wellcome Trust under award 076113, 085475 and 090355. The KORA research platform (KORA, Cooperative Research in the Region of Augsburg) was initiated and financed by the Helmholtz Zentrum München—German Research Center for Environmental Health, which is funded by the German Federal Ministry of Education and Research and by the State of Bavaria. Furthermore, KORA research was supported within the Munich Center of Health Sciences (MC Health), Ludwig-Maximilians-Universität, as part of LMUinnovativ. J. Barc is supported by the research program Etoiles montantes des Pays de la Loire REGIOCARD RPH081-U1087-REG-PDL, ANR JCJC LEARN (R21006NN, RPV21014NNA) and by the H2020-MSCA-IF-2014 Program of the European Commission (RISTRAD-661617). R.T. is supported by the Canadian Heart Rhythm Society’s George Mines Award, the European Society of Cardiology research award, and the Philippa and Marvin Carsley Cardiology Chair. D.Y.C. is supported by Fondation Leducq and National Institutes of Health (NIH) NHGRI T32 (no. 1T32HG010464-01). M. Baudic was supported by IRP—VERACITIES—New Mechanisms for VEntricular ARrhythmia And CardIomeTabolic DIseasES, an I-SITE NExT health and engineering initiative (Ecole Centrale and Nantes University) and by the IRP—GAINES—Genetic Architecture IN cardiovascular disEaSes funded by INSERM and CNRS. R.W. is supported by an Amsterdam Cardiovascular Sciences fellowship. S.C. is supported by the NHLBI BioData Catalyst Fellows Program. C.A.R. is supported by Fondation Leducq, the Dutch Heart Foundation (CVON PREDICT2) and the Innovational Research Incentives Scheme Vidi grant from the Netherlands Organisation for Health Research and Development (ZonMw, 91714371). Y.D.W. is supported by the Robert Lancaster Memorial Fund. M.P. is supported by Cardiac Risk in the Young. S.V.D. is supported by Wetenschappelijk Fonds Willy Gepts VUB-UZ Brussel, project ‘Unravelling the molecular genetic pathways of Brugada Syndrome by cardiomics research’, VUB IRP project ‘IMAGica: an Integrative personalized Medical Approach for Genetic diseases, Inherited Cardia Arrhythmias as a model’ and Innoviris BRIDGE 2017, project ‘IGenCare: Integrated Personalised Medical Genomics Care Solution for Patients with Rare Genetic Diseases’. S.H. is supported by the Barts BRC. B.R. is supported by the DZHK (German Centre for Cardiovascular Research) and by the BMBF (German Ministry of Education and Research). B.G.W. is supported by the Danish Heart Foundation. M.B.S. is supported by K23HL127704. Project MinE Belgium was supported by a grant from IWT (no. 140935), the ALS Liga België, the National Lottery of Belgium and the KU Leuven Opening the Future Fund. D.C. and C.L. are supported by HYPERGENES (HEALTH-F4-2007). D.R. is supported by R01 HL149826, P50 GM115305. P.J.S. acknowledges the support of Leducq Foundation for Cardiovascular Research grant 18CVD05. P.V.D. is supported by the Netherlands CardioVascular Research Initiative (CVON PREDICT2). C.A. is supported by NIH HL47678 and HL138103, W.W. Smith Charitable Trust and Wistar Morris Fund. M.B. is Supported by the DZHK (German Centre for Cardiovascular Research) and by the BMBF (German Ministry of Education and Research). P.D.L. is supported by UCL/UCLH Biomedicine NIHR and Barts BRC. B.L. is supported by GOA—Antigone 33933. J.B. is supported by a Senior Clinical Fellowship of the Flemish Science Foundation (FWO). E.B. is supported by the British Heart Foundation including BHF Clinical Research Training Fellowship (FS/11/71/28918: Future diagnostic role and new genetic loci in SADS), Cardiac Risk in the Young and Robert Lancaster Memorial fund sponsored by McColl’s Ltd. Retail Group. H.L.T. is supported by the European Union’s Horizon 2020 research and innovation program under acronym ESCAPE-NET, registered under grant agreement no. 733381, and the Dutch Heart Foundation (CVON RESCUED and PREDICT2 projects). M.D. is supported by NIH-RO1 HL134328. P.T.E. was supported by the Fondation Leducq (14CVD01), the NIH (1RO1HL092577, R01HL128914, K24HL105780), the American Heart Association (18SFRN34110082) and by a research grant from Bayer AG to the Broad Institute. S.A.L. is supported by NIH grant 1R01HL139731 and American Heart Association 18SFRN34250007. J.-B.G. received a grant from the Fédération Française de Cardiologie (PREVENT project). A.L.G. is supported by the Fondation Leducq. C.A.M.R. is supported by the Leducq Foundation and Burroughs Wellecome Fund. A.A.W. is supported by the Dutch Heart Foundation (CVON PREDICT2 project). J.-J.S. is supported by the Fondation pour la Recherche Médicale (DEQ20140329545). R.R. and P.G. are supported by the National Agency for Research (ANR-GENSUD-14-CE10-0001). C.R.B. is supported by the Dutch Heart Foundation (CVON PREDICT2 project), the Netherlands Organization for Scientific Research (VICI fellowship, 016.150.610) and Fondation Leducq (17CVD02)., Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Cardiology, Graduate School, Medical Biology, ACS - Amsterdam Cardiovascular Sciences, ACS - Heart failure & arrhythmias, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, APH - Methodology, Epidemiology and Data Science, MUMC+: DA KG Polikliniek (9), RS: Carim - H02 Cardiomyopathy, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: Carim - H04 Arrhythmogenesis and cardiogenetics, and Cardiovascular Centre (CVC)

Subjects
EXPRESSION, [SDV]Life Sciences [q-bio], DIAGNOSIS, GUIDELINES, ANNOTATION, Article, NAV1.5 Voltage-Gated Sodium Channel, Young Adult, MANAGEMENT, Genetics, GWAS, Humans, Genetic Predisposition to Disease, 610 Medicine & health, SCN5A, Alleles, Brugada Syndrome, Allele, [SDV.GEN]Life Sciences [q-bio]/Genetics, HERITABILITY, Microtubule-Associated Protein, Brugada Syndrome, GWAS, SNPs, COMMON VARIANTS, Mutation, Disease Susceptibility, Human medicine, ENRICHMENT, Microtubule-Associated Proteins, SNPs, Human, GENERATION, Genome-Wide Association Study
Abstract

Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel Na(V)1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on Na(V)1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings. Genome-wide association analyses identify new susceptibility loci for Brugada syndrome. Functional studies implicate microtubule-related trafficking effects on sodium channel expression as an underlying molecular mechanism., European Research Council (ERC) under the European Union's Horizon 2020 research and innovation program [772376-EScORIAL]; Health~Holland; Top Sector Life Sciences Health; Wellcome Trust [076113, 085475, 090355]; Helmholtz Zentrum Munchen-German Research Center for Environmental Health - German Federal Ministry of Education and Research; State of Bavaria; Munich Center of Health Sciences (MC Health), Ludwig-Maximilians-Universitat, as part of LMUinnovativ; research program Etoiles montantes des Pays de la Loire [REGIOCARD RPH081-U1087-REG-PDL]; ANR JCJC LEARN [R21006NN, RPV21014NNA]; H2020-MSCA-IF-2014 Program of the European Commission [RISTRAD-661617]; Canadian Heart Rhythm Society's George Mines Award; European Society of Cardiology research award; Philippa and Marvin Carsley Cardiology Chair; Fondation Leducq; National Institutes of Health (NIH) NHGRI T32 [1T32HG010464-01]; IRP-VERACITIES-New Mechanisms for VEntricular ARrhythmia And CardIomeTabolic DIseasES an I-SITE NExT health and engineering initiative (Ecole Centrale); IRP-VERACITIES-New Mechanisms for VEntricular ARrhythmia And CardIomeTabolic DIseasES an I-SITE NExT health and engineering initiative (Nantes University); IRP-GAINES-Genetic Architecture IN cardiovascular disEaSes - INSERM; CNRS; Amsterdam Cardiovascular Sciences fellowship; NHLBI BioData Catalyst Fellows Program; Dutch Heart Foundation [CVON PREDICT2]; Innovational Research Incentives Scheme Vidi grant from the Netherlands Organisation for Health Research and Development (ZonMw) [91714371]; Robert Lancaster Memorial Fund; Cardiac Risk in the Young; Wetenschappelijk Fonds Willy Gepts VUB-UZ Brussel; VUB IRP project `IMAGica: an Integrative personalized Medical Approach for Genetic diseases, Inherited Cardia Arrhythmias as a model' and Innoviris BRIDGE 2017; project `IGenCare: Integrated Personalised Medical Genomics Care Solution for Patients with Rare Genetic Diseases'; Barts BRC; DZHK (German Centre for Cardiovascular Research); BMBF (German Ministry of Education and Research); Danish Heart Foundation; IWT [140935]; ALS Liga Belgie; National Lottery of Belgium; KU Leuven Opening the Future Fund; HYPERGENES [HEALTH-F4-2007]; Leducq Foundation for Cardiovascular Research grant [18CVD05]; Netherlands CardioVascular Research Initiative [CVON PREDICT2]; NIH [HL47678, HL138103, 1RO1HL092577, R01HL128914, K24HL105780]; W.W. Smith Charitable Trust; Wistar Morris Fund; GOA-Antigone [33933]; Senior Clinical Fellowship of the Flemish Science Foundation (FWO); British Heart Foundation; BHF Clinical Research Training Fellowship [FS/11/71/28918]; Cardiac Risk in the Young and Robert Lancaster Memorial fund - McColl's Ltd. Retail Group; European Union's Horizon 2020 research and innovation program under acronym ESCAPE-NET [733381]; Dutch Heart Foundation; Fondation Leducq [14CVD01, 17CVD02]; American Heart Association [18SFRN34110082, 18SFRN34250007]; Bayer AG; NIH grant [1R01HL139731]; Federation Francaise de Cardiologie (PREVENT project); Leducq Foundation; Burroughs Wellecome Fund; Fondation pour la Recherche Medicale [DEQ20140329545]; National Agency for Research [ANR-GENSUD-14-CE10-0001]; Netherlands Organization for Scientific Research (VICI fellowship) [016.150.610]; [K23HL127704]; [R01 HL149826]; [P50 GM115305]; [NIH-RO1 HL134328], We are greatly indebted to the patients included in the study. We thank V. Cotard, C. Goutsmedt, M.-F. Le Cunff and N. Bourgeais for assistance in patient recruitment and L. Beekman for his technical support. We thank the biological resource centre for biobanking (CHU Nantes, Nantes Universite, Centre de ressources biologiques (BB0033-00040), F-44000 Nantes, France) for applying the following guidelines68. We are most grateful to the Genomics and Bioinformatics Core Facility of Nantes (GenoBiRD, Biogenouest, IFB) for its technical support. This research has been conducted using the UK Biobank resource; we are grateful to UK Biobank participants. The MINE study (J.H.V.) has received funding from the European Research Council (ERC) under the European Union's Horizon 2020 research and innovation program (grant agreement no. 772376-EScORIAL). The collaboration project is cofunded by the PPP Allowance made available by Health~Holland, Top Sector Life Sciences & Health, to stimulate public-private partnerships. This study makes use of data generated by the Wellcome Trust Case-Control Consortium. A full list of the investigators who contributed to the generation of the data is available from www.wtccc.org.uk.Funding for the project was provided by the Wellcome Trust under award 076113, 085475 and 090355. The KORA research platform (KORA, Cooperative Research in the Region of Augsburg) was initiated and financed by the Helmholtz Zentrum Munchen-German Research Center for Environmental Health, which is funded by the German Federal Ministry of Education and Research and by the State of Bavaria. Furthermore, KORA research was supported within the Munich Center of Health Sciences (MC Health), Ludwig-Maximilians-Universitat, as part of LMUinnovativ. J. Barc is supported by the research program Etoiles montantes des Pays de la Loire REGIOCARD RPH081-U1087-REG-PDL, ANR JCJC LEARN (R21006NN, RPV21014NNA) and by the H2020-MSCA-IF-2014 Program of the European Commission (RISTRAD-661617). R.T. is supported by the Canadian Heart Rhythm Society's George Mines Award, the European Society of Cardiology research award, and the Philippa and Marvin Carsley Cardiology Chair. D.Y.C. is supported by Fondation Leducq and National Institutes of Health (NIH) NHGRI T32 (no. 1T32HG010464-01). M. Baudic was supported by IRP-VERACITIES-New Mechanisms for VEntricular ARrhythmia And CardIomeTabolic DIseasES, an I-SITE NExT health and engineering initiative (Ecole Centrale and Nantes University) and by the IRP-GAINES-Genetic Architecture IN cardiovascular disEaSes funded by INSERM and CNRS. R.W. is supported by an Amsterdam Cardiovascular Sciences fellowship. S.C. is supported by the NHLBI BioData Catalyst Fellows Program. C.A.R. is supported by Fondation Leducq, the Dutch Heart Foundation (CVON PREDICT2) and the Innovational Research Incentives Scheme Vidi grant from the Netherlands Organisation for Health Research and Development (ZonMw; 91714371). Y.D.W. is supported by the Robert Lancaster Memorial Fund. M.P. is supported by Cardiac Risk in the Young. S.V.D. is supported by Wetenschappelijk Fonds Willy Gepts VUB-UZ Brussel, project `Unravelling the molecular genetic pathways of Brugada Syndrome by cardiomics research', VUB IRP project `IMAGica: an Integrative personalized Medical Approach for Genetic diseases, Inherited Cardia Arrhythmias as a model' and Innoviris BRIDGE 2017, project `IGenCare: Integrated Personalised Medical Genomics Care Solution for Patients with Rare Genetic Diseases'. S.H. is supported by the Barts BRC. B.R.; is supported by the DZHK (German Centre for Cardiovascular Research) and by the BMBF (German Ministry of Education and Research). B.G.W. is supported by the Danish Heart Foundation. M.B.S. is supported by K23HL127704. Project MinE Belgium was supported by a grant from IWT (no. 140935), the ALS Liga Belgie, the National Lottery of Belgium and the KU Leuven Opening the Future Fund. D.C. and C.L. are supported by HYPERGENES (HEALTH-F4-2007). D.R. is supported by R01 HL149826, P50 GM115305. P.J.S. acknowledges the support of Leducq Foundation for Cardiovascular Research grant 18CVD05. P.V.D. is supported by the Netherlands CardioVascular Research Initiative (CVON PREDICT2). C.A. is supported by NIH HL47678 and HL138103, W.W. Smith Charitable Trust and Wistar Morris Fund. M.B. is Supported by the DZHK (German Centre for Cardiovascular Research) and by the BMBF (German Ministry of Education and Research). P.D.L. is supported by UCL/UCLH Biomedicine NIHR and Barts BRC. B.L. is supported by GOA-Antigone 33933. J.B. is supported by a Senior Clinical Fellowship of the Flemish Science Foundation (FWO). E.B. is supported by the British Heart Foundation including BHF Clinical Research Training Fellowship (FS/11/71/28918: Future diagnostic role and new genetic loci in SADS), Cardiac Risk in the Young and Robert Lancaster Memorial fund sponsored by McColl's Ltd. Retail Group. H.L.T. is supported by the European Union's Horizon 2020 research and innovation program under acronym ESCAPE-NET, registered under grant agreement no. 733381, and the Dutch Heart Foundation (CVON RESCUED and PREDICT2 projects). M.D. is supported by NIH-RO1 HL134328. P.T.E. was supported by the Fondation Leducq (14CVD01), the NIH (1RO1HL092577, R01HL128914, K24HL105780), the American Heart Association (18SFRN34110082) and by a research grant from Bayer AG to the Broad Institute. S.A.L. is supported by NIH grant 1R01HL139731 and American Heart Association 18SFRN34250007. J.-B.G. received a grant from the Federation Francaise de Cardiologie (PREVENT project). A.L.G. is supported by the Fondation Leducq. C.A.M.R. is supported by the Leducq Foundation and Burroughs Wellecome Fund. A.A.W. is supported by the Dutch Heart Foundation (CVON PREDICT2 project). J.-J.S. is supported by the Fondation pour la Recherche Medicale (DEQ20140329545). R.R. and P.G. are supported by the National Agency for Research (ANR-GENSUD-14-CE10-0001). C.R.B. is supported by the Dutch Heart Foundation (CVON PREDICT2 project), the Netherlands Organization for Scientific Research (VICI fellowship, 016.150.610) and Fondation Leducq (17CVD02).

Published
2022
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429. Ablation of frequent premature ventricular complex in an athlete.

Author

Grazioli, G., Fernández‐Armenta, J., Prat, S., Berruezo, A., Brugada, J., and Sitges, M.

Subjects
*HEART ventricle diseases, *ARRHYTHMIA, *ATHLETES, *CATHETER ablation, *ECHOCARDIOGRAPHY, *LEFT heart ventricle, *MAGNETIC resonance imaging, *SYMPTOMS
Abstract

Premature ventricular complex are common findings in the exam of many athletes. There is no extensive scientific evidence in the management of this situation particularly when associated with borderline contractile function of the left ventricle. In this case report, we present a 35-year-old asymptomatic healthy athlete with high incidence (over 10 000 beats in 24 h) of premature ventricular complex and left ventricular dilatation with dysfunction, which persisted after a resting period of 6 months without training. We performed radiofrequency ablation of the premature ventricular complex focus. After 1-year follow-up, he was asymptomatic without arrhythmia and the left ventricle normalized its size and function as shown by echocardiogram and cardiac magnetic resonance. [ABSTRACT FROM AUTHOR]

Published
2015
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430. Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications.

Author

Alcalde, M., Campuzano, O., Allegue, C., Torres, M., Arbelo, E., Partemi, S., Iglesias, A., Brugada, J., Oliva, A., Carracedo, A., and Brugada, R.

Subjects
*ARRHYTHMOGENIC right ventricular dysplasia, *DESMOSOMES, *AUTOPSY, *SHORT tandem repeat analysis, *DNA mutational analysis, *IMMUNOLOGICAL deficiency syndromes, *CAUSES of death
Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiac disease characterized by myocardial fibrofatty replacement, which can lead to sudden death. Previous studies have described a reduction of plakoglobin (PKG) protein at the level of intercalated disks as the hallmark of ARVC. The main objective of this study was to investigate the involvement of desmosome mutations in the histological phenotype of ARVC. We performed a genetic analysis of ARVC cases, and histological characterization of ARVC heart tissue samples. We genetically analyzed 48 ARVC cases distributed into two groups: 42 human tissue heart samples with conclusive diagnoses of ARVC after post-mortem examination; and six DNA samples from peripheral blood of living patients who were clinically diagnosed. Sequenom MassARRAY analysis revealed three ARVC-associated variants in three patients in 42 tissue samples (7.14 %). Three individuals carried one single pathogenic mutation, p.R811S _ PKP2, p.S824L_ DSC2, and p.T526M_ PKP2 in postmortem samples. In the living patients group, Sequenom MassARRAY revealed no mutation, however, later Sanger sequencing analysis identified three ARVC mutations in 2/6 patients not included in the Sequenom design. In post-mortem tissue samples we performed immunohistochemical labeling for desmosomal proteins and Connexin 43. This study revealed that PKP2 carriers present either absent or clearly reduced PKG immunolabeling, while the DSC2 carrier showed PKG immunolabeling similar to control samples. Immunolabeling for Cx43 did not show any differences compared to controls. The present Sequenom MassARRAY design is a useful tool for post-mortem genetic diagnosis of ARVC. Plakoglobin reduction occurs at intercalated disks, while other desmosome proteins and Cx43 remain unaltered. [ABSTRACT FROM AUTHOR]

Published
2015
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431. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Author

Charles Antzelevitch, Ahmad S. Amin, Bo Gregers Winkel, Dan M. Roden, Stefan Kääb, Jonathan R. Skinner, Seiko Ohno, Julien Barc, Birgit Stallmeyer, Carla Giustetto, Connie R. Bezzina, Francesco Mazzarotto, Tomas Robyns, Carlo Napolitano, Stellan Mörner, Doris Škorić-Milosavljević, Sven Dittmann, Kenichiro Yamagata, Sonia Van Dooren, Anniek Corveleyn, Carlo de Asmundis, Ramon Brugada, K Usuda, Yuji Tanaka, Sven Zumhagen, Tadashi Nakajima, Johan Saenen, Elijah R. Behr, Hector Barajas-Martinez, Stéphane Bézieau, Masao Yoshinaga, Georgia Sarquella-Brugada, Paul G.A. Volders, Juan R. Gimeno, Lia Crotti, Charlotte Glinge, Andrea Mazzanti, Ingrid P.C. Krapels, Nicola Whiffin, Sebastian Clauss, Yoshiaki Kaneko, James S. Ware, Minoru Horie, Keiko Shimamoto, Isabelle Denjoy, Pieter G. Postema, Christian Krijger, Takeshi Aiba, Masahiko Kurabayashi, Pyotr G. Platonov, Regina Sebastiano, Cristina Gil Ortuño, Annika Rydberg, Roddy Walsh, Michael J. Ackerman, Hideki Itoh, M. Benjamin Shoemaker, Can Hasdemir, Pascale Guicheney, J. Martijn Bos, Frederic Sacher, Takeru Makiyama, Julieta Lazarte, Maarten P. van den Berg, Dominique Babuty, David J. Tester, Silvia Castelletti, Jacques Mansourati, Antoine Leenhardt, Paul A. van der Zwaag, Sanjay Sharma, Elena Arbelo, Candan Celen, Pier D. Lambiase, Maria Christina Kotta, Johannes Steinfurt, Jean-Baptiste Gourraud, Pedro Brugada, Wataru Shimizu, Josep Brugada, Jørgen K. Kanters, Eline A. Nannenberg, Silvia G. Priori, Mary N. Sheppard, Richard Redon, Morten S. Olesen, Jeroen Breckpot, Britt M. Beckmann, Naomasa Makita, Martin Borggrefe, Rafik Tadros, Jean-Jacques Schott, Jacob Tfelt-Hansen, Steven A. Lubitz, Hatice Şahin, Najim Lahrouchi, Michael Papadakis, Daisuke Hazeki, Kenshi Hayashi, Oscar Campuzano, Katja E. Odening, Federica Dagradi, Eric Schulze-Bahr, Boris Rudic, Hiroki Kimoto, Vincent Probst, Jason D. Roberts, Raphaël P. Martins, Bart Loeys, Daniela F. Giachino, F. Kyndt, Kimie Ohkubo, Taisuke Ishikawa, Catarina Lundin, Lut Van Laer, Patrick T. Ellinor, Maria Sabater Molina, Peter J. Schwartz, Annika Winbo, Wellcome Trust, Rosetrees Trust, British Heart Foundation, Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), CIC - CHU Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Pontchaillou [Rennes], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Ege Üniversitesi, Cardiovascular Centre (CVC), Nantes Referral Ctr Inherited Car, Cardiology, Graduate School, ACS - Heart failure & arrhythmias, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, ACS - Atherosclerosis & ischemic syndromes, MUMC+: DA KG Polikliniek (9), RS: Carim - H02 Cardiomyopathy, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: Carim - H04 Arrhythmogenesis and cardiogenetics, Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Clinical sciences, Heartrhythmmanagement, Medical Genetics, Reproduction and Genetics, and Cardio-vascular diseases

Subjects
0301 basic medicine, [SDV]Life Sciences [q-bio], Nantes Referral Center for inherited cardiac arrhythmia, Disease, Arrhythmias, 030105 genetics & heredity, ACMG/AMP guidelines, Brugada, LQTS, variant interpretation, Medicine, Genetics (clinical), Brugada Syndrome, Brugada syndrome, Genetics, Genetics & Heredity, education.field_of_study, medicine.diagnostic_test, Molecular pathology, 3. Good health, Long QT Syndrome, Medical genetics, Population Control, Cardiology and Cardiovascular Medicine, Cardiac, Medical Genetics, Life Sciences & Biomedicine, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Long QT syndrome, Population, 610 Medicine & health, BIO/18 - GENETICA, Article, 03 medical and health sciences, Humans, Genetic Testing, cardiovascular diseases, education, Medicinsk genetik, Genetic testing, 0604 Genetics, Science & Technology, business.industry, Genetic heterogeneity, MUTATIONS, ACMG/AMP guideline, Arrhythmias, Cardiac, 1103 Clinical Sciences, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, medicine.disease, Mutation, 030104 developmental biology, Human medicine, business
Abstract

Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 x 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 x 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing., Amsterdam Cardiovascular Sciences fellowship; Dutch Heart Foundation (CVON Predict-2/Concor-genes); Netherlands Organization for Scientific ResearchNetherlands Organization for Scientific Research (NWO) [VICI 016.150.610]; Fondation LeducqLeducq Foundation, R.W. is supported by an Amsterdam Cardiovascular Sciences fellowship. C.R.B. is supported by the Dutch Heart Foundation (CVON Predict-2/Concor-genes), Netherlands Organization for Scientific Research (VICI 016.150.610), and Fondation Leducq. See Supplement for all Acknowledgements.

Published
2020
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432. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Author

Yvonne M. Hoedemaekers, M. Ben Shoemaker, Pascale Guicheney, Antoine Leenhardt, Andrea Mazzanti, Minoru Horie, Jan H. Veldink, Isabelle Denjoy, Yu Kucho, Chiea Chuen Khor, Tomas Robyns, Carlo Napolitano, Peter Weeke, J. Martijn Bos, David J. Tester, Hanno L. Tan, Annika Rydberg, Patrick T. Ellinor, Pilar Galan, Taisuke Ishikawa, Seiko Ohno, Peter J. Schwartz, Masao Yoshinaga, Thomas Werge, Marta Ribasés, Bart Loeys, Jean-Jacques Schott, Jacob Tfelt-Hansen, Ulla-Britt Diamant, Marko Ernsting, Georgia Sarquella-Brugada, Yuka Mizusawa, Michael Christiansen, Pyotr G. Platonov, Annika Winbo, Thomas Meitinger, Keiko Shimamoto, Cristina Barlassina, Pieter G. Postema, Takeru Makiyama, Maarten P. van den Berg, Yanushi D. Wijeyeratne, Wataru Shimizu, Charles Antzelevitch, Christopher Newton-Cheh, Martina Müller-Nurasyid, Dan M. Roden, Vincent Probst, Takeshi Aiba, Lia Crotti, Daniele Cusi, Britt M. Beckmann, Johan Saenen, Peter Lichtner, Oscar Campuzano, Tin Aung, Nynke Hofman, Morten S. Olesen, Matteo Pedrazzini, Elijah R. Behr, Karen E. Morrison, Najim Lahrouchi, Katja E. Odening, Andrew D. Krahn, Kari L. Turkowski, J. Peter van Tintelen, Steven A. Lubitz, Federica Dagradi, Josep Brugada, Julien Barc, Birgit Stallmeyer, Stefan Kääb, Sven Zumhagen, Jonathan R. Skinner, Michael W.T. Tanck, Christopher Shaw, Brianna Davies, Eric Schulze-Bahr, Mineo Ozaki, Roddy Walsh, Antoine Andorin, Leonard H. van den Berg, Silvia G. Priori, Johannes Steinfurt, Jean-Baptiste Gourraud, Eline A. Nannenberg, Mark Lathrop, Rafik Tadros, Ramon Brugada, Leander Beekman, Peter M. Andersen, Ryan Pfeiffer, Boris Rudic, Reza Jabbari, Kanae Hasegawa, Jeroen Breckpot, Naomasa Makita, Michael J. Ackerman, Arthur A.M. Wilde, Hideki Itoh, Martin Borggrefe, Elena Arbelo, Connie R. Bezzina, Pamela J. Shaw, Ammar Al-Chalabi, Markus Munter, Cardiology, Graduate School, ACS - Heart failure & arrhythmias, ACS - Amsterdam Cardiovascular Sciences, Human Genetics, Epidemiology and Data Science, APH - Methodology, ACS - Atherosclerosis & ischemic syndromes, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences. Amsterdam University Medical Center, University of Amsterdam, European Reference Network for Rare, Low Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Institut de Cardiologie de Montreal, Université de Montréal (UdeM), Istituto Auxologico Italiano, Shiga University of Medical Science, University of Fukui [Bunkyo], Equipe 3: EREN- Equipe de Recherche en Epidémiologie Nutritionnelle (CRESS - U1153), Université Sorbonne Paris Nord-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CIC - CHU Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM), Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K, Mazzanti, A, Beckmann, B, Shimamoto, K, Diamant, U, Wijeyeratne, Y, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M, Weeke, P, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D, Bos, J, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P, Stallmeyer, B, Zumhagen, S, Nannenberg, E, Veldink, J, van den Berg, L, Al-Chalabi, A, Shaw, C, Shaw, P, Morrison, K, Andersen, P, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J, Gourraud, J, Makiyama, T, Ohno, S, Itoh, H, Krahn, A, Antzelevitch, C, Roden, D, Saenen, J, Borggrefe, M, Odening, K, Ellinor, P, Tfelt-Hansen, J, Skinner, J, van den Berg, M, Olesen, M, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E, Rydberg, A, Aiba, T, Kääb, S, Priori, S, Guicheney, P, Tan, H, Newton-Cheh, C, Ackerman, M, Schwartz, P, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A, Tanck, M, Bezzina, C, and Cardiovascular Centre (CVC)

Subjects
Multifactorial Inheritance, [SDV]Life Sciences [q-bio], Genome-wide association study, 030204 cardiovascular system & hematology, Severity of Illness Index, Sudden cardiac death, Electrocardiography, 0302 clinical medicine, inheritance pattern, Medicine, Cardiac and Cardiovascular Systems, Age of Onset, Genetics, 0303 health sciences, Kardiologi, Genetic disorder, genome-wide association study, Prognosis, 3. Good health, Phenotype, Medical genetics, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, Long QT syndrome, 610 Medicine & health, BIO/18 - GENETICA, QT interval, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Physiology (medical), long QT syndrome, Humans, Genetic Predisposition to Disease, cardiovascular diseases, Alleles, Genetic Association Studies, MED/01 - STATISTICA MEDICA, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, inheritance patterns, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, Heritability, medicine.disease, Genetic architecture, Genome-wide Association Study, Inheritance Patterns, Long Qt Syndrome, Case-Control Studies, Human medicine, business
Abstract

Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). These observations raise the possibility that common genetic variants with small effect size contribute to the clinical picture of LQTS. This study aimed to characterize and quantify the contribution of common genetic variation to LQTS disease susceptibility. Methods: We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. We estimated the common variant heritability of LQTS and tested the genetic correlation between LQTS susceptibility and other cardiac traits. Furthermore, we tested the aggregate effect of the 68 single nucleotide polymorphisms previously associated with the QT-interval in the general population using a polygenic risk score. Results: Genome-wide association analysis identified 3 loci associated with LQTS at genome-wide statistical significance ( P −8 ) near NOS1AP , KCNQ1 , and KLF12 , and 1 missense variant in KCNE1 (p.Asp85Asn) at the suggestive threshold ( P −6 ). Heritability analyses showed that ≈15% of variance in overall LQTS susceptibility was attributable to common genetic variation ( h2SNP 0.148; standard error 0.019). LQTS susceptibility showed a strong genome-wide genetic correlation with the QT-interval in the general population (r g =0.40; P =3.2×10 −3 ). The polygenic risk score comprising common variants previously associated with the QT-interval in the general population was greater in LQTS cases compared with controls ( P P Conclusions: This work establishes an important role for common genetic variation in susceptibility to LQTS. We demonstrate overlap between genetic control of the QT-interval in the general population and genetic factors contributing to LQTS susceptibility. Using polygenic risk score analyses aggregating common genetic variants that modulate the QT-interval in the general population, we provide evidence for a polygenic architecture in genotype negative LQTS.

Published
2020
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433. Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Author

Campuzano, O., Alcalde, M., Berne, P., Castro, V., Guzzo, G., Iglesias, A., Alonso-Pulpon, L., Garcia-Pavia, P., Brugada, J., and Brugada, R.

Subjects
*CARDIOMYOPATHIES, *DYSPLASIA, *GENETIC testing, *HEART ventricles, *MUSCLE cells, *ARRHYTHMIA, *MYOSIN light chain kinase, *GENETICS
Abstract

Abstract: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare cardiac genetic disease characterized by the presence of structural alterations in the right ventricle which may cause ventricular arrhythmias and may induce sudden cardiac death. ARVC/D has been associated with mutations in genes encoding myocyte adhesion proteins. However, only 30%–50% of patients have mutations in these genes. Genetic testing is useful in obtaining a diagnosis, particularly in individuals who do not completely fulfill clinical criteria, thereby also enabling the undertaking of preventive strategies in family members. The main goal of this study was to identify mutations in candidate genes associated with intercalate disks that could be potentially involved in ARVC/D pathogenesis. We analyze a cohort of 14 Spanish unrelated patients clinically diagnosed with ARVC/D without any genetic alteration in all previously known responsible genes. Thus, a genetic screening has been performed in 7 additional potential candidate genes (ACTC1 -actin alpha cardiac muscle 1-, CDHN -cadherin 2 type 1 or N-cadherin-, CTNNA1 -catenin alpha 1-, Cx43 or GJA1 -gap junction protein alpha 1-, MVCL -Metavinculin-, MYL2 -myosin light chain 2- and MYL3 -myosin light chain 3-) by direct sequencing analysis. Our genetic analysis did not identify any disease-causing mutation. Thirty single nucleotides polymorphisms were found, six of them novel. In conclusion, our ARVC/D Spanish cohort has not shown any mutations in the analyzed candidate genes despite their involvement in formation and maintenance of the intercalated disk. [Copyright &y& Elsevier]

Published
2012
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435. Outcomes after radiofrequency catheter ablation of atrial tachycardia.

Author

Anguera, Ignasi, Brugada, Josep, Roba, Michel, Mont, Lluís, Aguinaga, Luis, Geelen, Peter, Brugada, Pedro, Anguera, I, Brugada, J, Roba, M, Mont, L, Aguinaga, L, Geelen, P, and Brugada, P

Subjects
*CATHETER ablation, *TACHYCARDIA
Abstract

The purpose of this study was to evaluate the efficacy, safety, and clinical benefit of radiofrequency catheter ablation (RFCA) in a large series of patients with atrial tachycardia (AT). The determinants of success or failure of RFCA in AT remain unclear. We evaluated the results of radiofrequency ablation in 73 women and 32 men (mean age 48 +/- 19 years) with AT. Mapping techniques were based on identification of the earliest endocardial atrial electrogram recorded during AT. AT originated from the right atrium in 91 patients and from the left atrium in 14. The cardiac ventricles were dilated in 12 patients. AT ablation was successful in 80 patients (77%) regardless of the site of origin. Age, gender, rate of tachycardia, temperature achieved during application, or presence of tachycardiomyopathy were not significant determinants of acute success by univariate analysis. There was a significantly higher acute success rate of ablation in patients with paroxysmal (88%, 45 of 51) and permanent (71%, 30 of 42) forms than in patients with repetitive forms of AT (41%, 5 of 12) (p <0.005). The mean local endocardial electrogram time (relative-to-surface P-wave onset) was -47 +/- 17 ms at successful ablation sites and -29 +/- 21 ms at unsuccessful sites (p <0.03). Ablation was unsuccessful in 25 cases. Thus, RFCA of AT can be performed with a high acute success rate. Patients with repetitive forms and those with multifocal origin had a lower acute success rate. The highest incidence of recurrences was found in anterior right atrial foci. [ABSTRACT FROM AUTHOR]

Published
2001
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436. Out-of-hospital cardiac arrest due to idiopathic ventricular fibrillation in patients with normal electrocardiograms : results from a multicentre long-term registry

Author

Pedro Brugada, Manuel Conti, Francisco Leyva, Antonio Frontera, Peter Ammann, Johann-Christoph Geller, Giuseppe Ciconte, Bernard Belhassen, Elena Arbelo, Roberto Rordorf, Giulio Conte, Catherine Klersy, Maria Luce Caputo, Carlo de Asmundis, Georgia Sarquella Brugada, Hein Heidbuchel, Christian Sticherling, Paola Berne, Johan Saenen, Leonardo Calò, Rüdiger C. Braun-Dullaeus, Valerio Zacà, Beat Schaer, Marco Zardini, Moreno Curti, Tom de Potter, Manlio F. Márquez, Yoav Michowitz, Blerim Luani, Annamaria Martino, Gavino Casu, Carlo Pappone, Kostantinos P. Letsas, Tardu Özkartal, François Regoli, Abbasin Zegard, Tiziano Moccetti, Shohreh Honarbakhsh, Argelia Medeiros-Domingo, Michel Haïssaguerre, Nicolas Derval, Kristina H. Haugaa, Mathis K. Stokke, Haran Burri, Josep Brugada, Moises Levinstein, Pier D. Lambiase, Angelo Auricchio, Bradley Porter, Francesca Notarangelo, Christopher A. Rinaldi, Faculty of Medicine and Pharmacy, Clinical sciences, Heartrhythmmanagement, Cardio-vascular diseases, Conte, G., Belhassen, B., Lambiase, P., Ciconte, G., De Asmundis, C., Arbelo, E., Schaer, B., Frontera, A., Burri, H., Calo, L., Letsas, K. P., Leyva, F., Porter, B., Saenen, J., Zaca, V., Berne, P., Ammann, P., Zardini, M., Luani, B., Rordorf, R., Sarquella Brugada, G., Medeiros-Domingo, A., Geller, J. -C., De Potter, T., Stokke, M. K., Marquez, M. F., Michowitz, Y., Honarbakhsh, S., Conti, M., Sticherling, C., Martino, A., Zegard, A., Ozkartal, T., Caputo, M. L., Regoli, F., Braun-Dullaeus, R. C., Notarangelo, F., Moccetti, T., Casu, G., Rinaldi, C. A., Levinstein, M., Haugaa, K. H., Derval, N., Klersy, C., Curti, M., Pappone, C., Heidbuchel, H., Brugada, J., Haissaguerre, M., Brugada, P., and Auricchio, A.

Subjects
Male, Time Factors, Benign early repolarization, Heart disease, medicine.medical_treatment, Sudden cardiac death, Electrocardiography, Reference Values, Interquartile range, Registries, Child, ddc:616, Medicine(all), medicine.diagnostic_test, Hazard ratio, Idiopathic ventricular fibrillation, Middle Aged, Implantable cardioverter-defibrillator, Quinidine, Defibrillators, Implantable, Electrocardiography, Idiopathic ventricular fibrillation, Implantable cardioverter-defibrillator, Out-of-hospital cardiac arrest, Quinidine, Sudden cardiac death, Ventricular Fibrillation, cardiovascular system, Cardiology, Female, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, Adolescent, sudden cardiac death, Young Adult, implantable cardioverter-defibrillator, Clinical Research, Physiology (medical), Internal medicine, medicine, Humans, Sudden death and ICDs, cardiovascular diseases, out-of-hospital cardiac arrest, Retrospective Studies, Out-of-hospital cardiac arrest, business.industry, medicine.disease, Editor's Choice, Ventricular fibrillation, Human medicine, business, Follow-Up Studies, idiopathic ventricular fibrillation, quinidine
Abstract

Aims To define the clinical characteristics and long-term clinical outcomes of a large cohort of patients with idiopathic ventricular fibrillation (IVF) and normal 12-lead electrocardiograms (ECGs). Methods and results Patients with ventricular fibrillation as the presenting rhythm, normal baseline, and follow-up ECGs with no signs of cardiac channelopathy including early repolarization or atrioventricular conduction abnormalities, and without structural heart disease were included in a registry. A total of 245 patients (median age: 38 years; males 59%) were recruited from 25 centres. An implantable cardioverter-defibrillator (ICD) was implanted in 226 patients (92%), while 18 patients (8%) were treated with drug therapy only. Over a median follow-up of 63 months (interquartile range: 25–110 months), 12 patients died (5%); in four of them (1.6%) the lethal event was of cardiac origin. Patients treated with antiarrhythmic drugs only had a higher rate of cardiovascular death compared to patients who received an ICD (16% vs. 0.4%, P = 0.001). Fifty-two patients (21%) experienced an arrhythmic recurrence. Age ≤16 years at the time of the first ventricular arrhythmia was the only predictor of arrhythmic recurrence on multivariable analysis [hazard ratio (HR) 0.41, 95% confidence interval (CI) 0.18–0.92; P = 0.03]. Conclusion Patients with IVF and persistently normal ECGs frequently have arrhythmic recurrences, but a good prognosis when treated with an ICD. Children are a category of IVF patients at higher risk of arrhythmic recurrences.

Published
2019

437. Assessing the Malignant Ventricular Arrhythmic Substrate in Patients With Brugada Syndrome

Author

Vincenzo Santinelli, Carlo Pappone, Luigi Giannelli, Josep Brugada, Gabriele Vicedomini, Giuseppe Ciconte, Zarko Calovic, Lorenzo Menicanti, Francesco Manguso, Giuseppe Della Ratta, Valerio Mecarocci, Valeria Borrelli, Paolo Pozzi, Manuel Conti, Pappone, C., Ciconte, G., Manguso, F., Vicedomini, G., Mecarocci, V., Conti, M., Giannelli, L., Pozzi, P., Borrelli, V., Menicanti, L., Calovic, Z., Della Ratta, G., Brugada, J., and Santinelli, V.

Subjects
Adult, Epicardial Mapping, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Ventricular Tachyarrhythmias, medicine.medical_treatment, Heart Ventricles, sudden death, Catheter ablation, 030204 cardiovascular system & hematology, Sudden death, Heart Ventricle, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, Internal medicine, catheter ablation, Medicine, Humans, In patient, Brugada syndrome, cardiovascular diseases, 030212 general & internal medicine, Prospective Studies, mapping, ventricular arrhythmia, Brugada Syndrome, programmed ventricular stimulation, business.industry, Substrate (chemistry), Middle Aged, medicine.disease, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, Human
Abstract

Background: Guidelines recommend the use of implanted cardioverter-defibrillators in patients with Brugada syndrome and induced ventricular tachyarrhythmias, but there is no evidence supporting it. Objectives: This prospective registry study was designed to explore clinical and electrophysiological predictors of malignant ventricular tachyarrhythmia inducibility in Brugada syndrome. Methods: A total of 191 consecutive selected patients with (group 1; n = 88) and without (group 2; n = 103) Brugada syndrome–related symptoms were prospectively enrolled in the registry. Patients underwent electrophysiological study and substrate mapping or ablation before and after ajmaline testing (1 mg/kg/5 min). Results: Overall, before ajmaline testing, 53.4% of patients had ventricular tachyarrhythmia inducibility, which was more frequent in group 1 (65.9%) than in group 2 (42.7%; p < 0.001). Regardless of clinical presentation, larger substrates with more fragmented long-duration ventricular potentials were found in patients with inducible arrhythmias than in patients without inducible arrhythmias (p < 0.001). One extrastimulus was used in more extensive substrates (median 13 cm2; p < 0.001), and ventricular fibrillation was the more frequently induced rhythm (p < 0.001). After ajmaline, patients without arrhythmia inducibility had arrhythmia inducibility without a difference in substrate characteristics between the 2 groups. The substrate size was the only independent predictor of inducibility (odds ratio: 4.51; 95% confidence interval: 2.51 to 8.09; p < 0.001). A substrate size of 4 cm2 best identified patients with inducible arrhythmias (area under the curve: 0.98; p < 0.001). Substrate ablation prevented ventricular tachyarrhythmia reinducibility. Conclusions: In Brugada syndrome dynamic substrate variability represents the pathophysiological basis of lethal ventricular tachyarrhythmias. Substrate size is independently associated with arrhythmia inducibility, and its determination after ajmaline identifies high-risk patients missed by clinical criteria. Substrate ablation is associated with electrocardiogram normalization and not arrhythmia reinducibility. (Epicardial Ablation in Brugada Syndrome [BRUGADA_I]; NCT02641431; Epicardial Ablation in Brugada Syndrome: An Extension Study of 200 BrS Patients; NCT03106701)

Published
2018

438. Ventricular Arrhythmias Ablation in Brugada Syndrome. Current and Future Directions

Author

Josep Brugada, Carlo Pappone, Pappone, C, and Brugada, J

Subjects
medicine.medical_specialty, medicine.medical_treatment, Catheter ablation, 030204 cardiovascular system & hematology, Electrocardiography, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, Brugada Syndrome, Brugada syndrome, Ajmaline, medicine.diagnostic_test, business.industry, General Medicine, Ablation, medicine.disease, Ventricular Fibrillation, Ventricular fibrillation, Catheter Ablation, Tachycardia, Ventricular, Cardiology, business, Anti-Arrhythmia Agents, medicine.drug
Published
2017

440. Epicardial mapping and ablation of the right ventricle substrate during flecainide testing in Brugada syndrome

Author

Carlo Pappone, Jesus Alberte Fernandez-Lopez, José Luis Martínez-Sande, Josep Brugada, José Ramón González-Juanatey, Javier García-Seara, Laila González-Melchor, Gonzalez-Melchor, L., Brugada, J., Martinez-Sande, J. L., Garcia-Seara, J., Fernandez-Lopez, J. A., Pappone, C., and Gonzalez-Juanatey, J. R.

Subjects
medicine.medical_specialty, medicine.medical_treatment, Case Report, 030204 cardiovascular system & hematology, Ablation, Ventricular tachycardia, RVOT, right ventricular outflow tract, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, VT, ventricular tachycardia, Diseases of the circulatory (Cardiovascular) system, Brugada syndrome, 030212 general & internal medicine, RF, radiofrequency, Flecainide, Epicardial mapping, business.industry, BrS, Brugada syndrome, Epicardium, Implantable cardioverter-defibrillator, medicine.disease, ICD, implantable cardioverter-defibrillator, Cardiac mapping, RV, right ventricle, medicine.anatomical_structure, Ventricle, RC666-701, Ventricular fibrillation, Cardiology, ECG, electrocardiogram, VF, ventricular fibrillation, Cardiology and Cardiovascular Medicine, business, medicine.drug
Published
2016

441. Indications to Atrial Fibrillation Ablation and Cost‐Effectiveness

Author

Panos E. Vardas, Eric N. Prystowsky, Matthew R. Reynolds, Francesca Zuffada, Vincenzo Santinelli, Carlo Pappone, Josep Brugada, Samuel Lévy, Prystowsky, E. N., Brugada, J., Levy, S., Reynolds, M., Santinelli, V., Vardas, P. E., Zuffada, F., and Pappone, C.

Subjects
medicine.medical_specialty, Resource allocation challenges, Cost effectiveness, business.industry, medicine.medical_treatment, Atrial fibrillation, Chan's US model, Cost-effectiveness in patients with lower baseline QoL scores, medicine.disease, Ablation, QALYs in cost-effectiveness, medicine, Atrial fibrillation ablation, Intensive care medicine, business, Catheter ablation of paroxysmal AF, Nonpharmacologic therapy of AF, Catheter ablation cost-effectiveness
Published
2011
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442. Use of the prophylactic implantable cardioverter defibrillator for patients with normal hearts.

Author

Brugada, Pedro, Brugada, Ramon, Brugada, P, Brugada, R, Brugada, J, and Geelen, P

Subjects
*IMPLANTABLE cardioverter-defibrillators, *VENTRICULAR fibrillation, *PREVENTION, *LONG QT syndrome treatment, *BUNDLE-branch block, *CARDIAC arrest, *LONG QT syndrome, *VENTRICULAR tachycardia, *THERAPEUTICS, CARDIAC arrest prevention
Abstract

About 10-20% of patients dying suddenly and unexpectedly do not have structural heart disease. The major causes of sudden death in this population are acute ischemia, the syndrome of right bundle branch block, and ST-elevation from V1 to V3, the long QT-syndrome, and the Wolff-Parkinson-While syndrome. In some patients, none of these syndromes can be recognized and ventricular fibrillation is classified as idiopathic. There are good preventive and therapeutic methods against acute ischemia and there are also curative treatments for the Wolff-Parkinson-White syndrome. Patients with idiopathic ventricular fibrillation cannot be recognized beforehand. However, there are electrocardiographic and genetic markers for the Brugada syndrome and the long QT syndrome. It is, therefore, justified to discuss the possible role of the prophylactic defibrillator to prevent sudden death in these 2 syndromes for which no effective treatment exists. Patients with Brugada syndrome have a high incidence of sudden death, and prophylactic defibrillators are indicated in patients with inducible arrhythmias at electrophysiologic study, irrespective of symptoms. On the contrary, the incidence of sudden death in the long QT syndrome is very low, making prophylactic defibrillator implantation not cost-effective. [ABSTRACT FROM AUTHOR]

Published
1999
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443. Venice Chart International Consensus Document on Ventricular Tachycardia/Ventricular Fibrillation Ablation

Author

Andrea, Natale, Antonio, Raviele, Amin, Al-Ahmad, Ottavio, Alfieri, Etienne, Aliot, Jesus, Almendral, Günter, Breithardt, Josep, Brugada, Hugh, Calkins, David, Callans, Riccardo, Cappato, John A, Camm, Paolo, Della Bella, Gerard M, Guiraudon, Michel, Haïssaguerre, Gerhard, Hindricks, Siew Yen, Ho, Karl H, Kuck, Francis, Marchlinski, Douglas L, Packer, Eric N, Prystowsky, Vivek Y, Reddy, Jeremy N, Ruskin, Mauricio, Scanavacca, Kalyanam, Shivkumar, Kyoko, Soejima, William J, Stevenson, Sakis, Themistoclakis, Atul, Verma, David, Wilber, Hiroshi, Nakagawa, Natale, A, Raviele, A, Al Ahmad, A, Alfieri, Ottavio, Aliot, E, Almendral, J, Breithardt, G, Brugada, J, Calkins, H, Callans, D, Cappato, R, Camm, Ja, Della Bella, P, Guiraudon, Gm, Haïssaguerre, M, Hindricks, G, Ho, Sy, Kuck, Kh, Marchlinski, F, Packer, Dl, Prystowsky, En, Reddy, Vy, Ruskin, Jn, Scanavacca, M, Shivkumar, K, Soejima, K, Stevenson, W. J, Themistoclakis, S, Verma, A, Wilber, D., Amsterdam Cardiovascular Sciences, and Pathology

Subjects
medicine.medical_specialty, Internationality, business.industry, education, Medical school, Care group, University hospital, humanities, Physiology (medical), Internal medicine, Atrial Fibrillation, Catheter Ablation, Tachycardia, Ventricular, Cardiology, Humans, Medicine, University medical, General hospital, Cardiology and Cardiovascular Medicine, business, Humanities
Abstract

Venice Chart International Consensus Document on Ventricular Tachycardia/Ventricular Fibrillation Ablation ANDREA NATALE, M.D.,∗ ANTONIO RAVIELE, M.D.,† AMIN AL-AHMAD, M.D.,‡ OTTAVIO ALFIERI, M.D.,¶ ETIENNE ALIOT, M.D.,∗∗ JESUS ALMENDRAL, M.D.,†† GUNTER BREITHARDT, M.D.,‡‡ JOSEP BRUGADA, M.D.,¶¶ HUGH CALKINS, M.D.,∗∗∗ DAVID CALLANS, M.D.,††† RICCARDO CAPPATO, M.D.,‡‡‡ JOHN A. CAMM, M.D.,¶¶¶ PAOLO DELLA BELLA, M.D.,∗∗∗∗ GERARD M. GUIRAUDON, M.D.,†††† MICHEL HAISSAGUERRE, M.D.,‡‡‡‡ GERHARD HINDRICKS, M.D.,¶¶¶¶ SIEW YEN HO, M.D.,∗∗∗∗∗ KARL H. KUCK, M.D.,††††† FRANCIS MARCHLINSKI, M.D.,‡‡‡‡‡ DOUGLAS L. PACKER, M.D.,¶¶¶¶¶ ERIC N. PRYSTOWSKY, M.D.,∗∗∗∗∗∗ VIVEK Y. REDDY, M.D.,†††††† JEREMY N. RUSKIN, M.D.,‡‡‡‡‡‡ MAURICIO SCANAVACCA, M.D.,¶¶¶¶¶¶ KALYANAM SHIVKUMAR, M.D.,∗∗∗∗∗∗∗ KYOKO SOEJIMA, M.D.,††††††† WILLIAM J. STEVENSON, M.D.,‡‡‡‡‡‡‡ SAKIS THEMISTOCLAKIS, M.D.,¶¶¶¶¶¶¶ ATUL VERMA, M.D.,∗∗∗∗∗∗∗∗ and DAVID WILBER, M.D.,†††††††† for the Venice Chart members From the ∗Texas Cardiac Arrhythmia Institute, St. David’s Medical Center, Austin, TX, USA; †Cardiovascular Department, Ospedale dell’Angelo, Mestre-Venice, Italy; ‡Cardiac Arrhythmia Service, Stanford University Medical School, Stanford, USA; ¶Department of Cardiac Surgery, Ospedale San Raffaele, Milan, Italy; ∗∗Department of Cardio-Vascular Diseases, CHU de Nancy, Hopital de Brabois, Vandoeuvre-les-Nancy, France; ††Division of Cardiology, Hospital General Gregorio Maranon, Madrid, Spain; ‡‡Department of Cardiology and Angiology, University Hospital of Munster, Munster, Germany; ¶¶Thorax Institute-Cardiology, Hospital Clinic, University of Barcelona, Barcelona, Spain; ∗∗∗Department of Cardiology, The Johns Hopkins Hospital, Baltimore, MD, USA; †††Department of Medicine, Section of Cardiovascular Disease, Hospital of the University of Pennsylvania, Philadelphia, PA, USA; ‡‡‡Department of Electrophysiology, Policlinico San Donato, San Donato Milanese, Italy; ¶¶¶Cardiac and Vascular Sciences, St. George’s Hospital Medical School, London, UK; ∗∗∗∗Cardiology Division, Centro Cardiologico Monzino, Milan, Italy; ††††Cardiac Surgery, University of Western Ontario, London, Canada; ‡‡‡‡Hopital Cardiologique du Haut Leveque, Bordeaux, France; ¶¶¶¶Heart Center, Department of Cardiology, University of Leipzig, Leipzig, Germany; ∗∗∗∗∗Cardiac Morphology Unit, Royal Brompton Hospital, London and Imperial College, London, UK; †††††Department of Cardiology, Asklepios Klinik St. Georg, Hamburg, Germany; ‡‡‡‡‡Department of Medicine, Section of Cardiovascular Disease, University of Pennsylvania, Philadelphia, PA, USA; ¶¶¶¶¶Cardiac Translational and Electrophysiology Laboratory, Saint Mary’s Hospital Complex, Mayo Clinic Foundation, Rochester, NY, USA; ∗∗∗∗∗∗The Care Group, Indianapolis, IN, USA; ††††††Cardiac Arrhythmia Service, Miller School of Medicine, University of Miami, Miami, USA; ‡‡‡‡‡‡Arrhythmia Service, Massachusetts General Hospital, Boston, MA, USA; ¶¶¶¶¶¶Heart Institute, University of San Paulo Medical School, San Paulo, Brazil; ∗∗∗∗∗∗∗Cardiac Arrhythmia Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA; †††††††Cardiovascular Division, University of Miami Hospital, Miami USA; ‡‡‡‡‡‡‡Cardiovascular Division, Brigham and Women’s Hospital, Boston, MA, USA; ¶¶¶¶¶¶¶Cardiovascular Department, Ospedale dell’Angelo, Mestre-Venice, Italy; ∗∗∗∗∗∗∗∗Cardiology, Southlake Regional Health Center, Toronto, Canada; and ††††††††Department of Cardiology, Loyola University Medical Center, Chicago, IL, USA

Published
2010
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444. Brugada Syndrome Phenotype Elimination by Epicardial Substrate Ablation

Author

Luigi Giannelli, Antonio Berruezo, Vincenzo Santinelli, Gabriele Vicedomini, Francesco Manguso, Carlo Pappone, Josep Brugada, Giuseppe Ciconte, Brugada, J., Pappone, C., Berruezo, A., Vicedomini, G., Manguso, F., Ciconte, G., Giannelli, L., and Santinelli, V.

Subjects
Male, Time Factors, Radiofrequency ablation, medicine.medical_treatment, Action Potentials, Predictive Value of Test, law.invention, Electrocardiography, law, Heart Rate, Ventricular outflow tract, Brugada syndrome, Brugada Syndrome, Flecainide, Middle Aged, Ablation, Phenotype, Ventricular Premature Complexes, Treatment Outcome, Anti-Arrhythmia Agent, Ventricular Fibrillation, Cardiology, Catheter Ablation, Cardiology and Cardiovascular Medicine, Electrophysiologic Techniques, Cardiac, Anti-Arrhythmia Agents, Pericardium, medicine.drug, Human, Adult, medicine.medical_specialty, Time Factor, phenotype, heart, sudden cardiac death, Young Adult, Predictive Value of Tests, Physiology (medical), Internal medicine, medicine, Humans, Action Potential, business.industry, Substrate (chemistry), medicine.disease, Icd implantation, Ventricular Premature Complexe, Death, Sudden, Cardiac, Tachycardia, Ventricular, business
Abstract

Background— Whether Brugada syndrome (BrS) depends on functional epicardial substrates, which may be definitively eliminated by radiofrequency ablation, remains unknown. Methods and Results— Patients with BrS underwent epicardial mapping to identify areas of abnormal electrograms as target for radiofrequency ablation. Substrate identification consisted in mapping right ventricle epicardial surface before and after flecainide (2 mg/kg per 10 minutes). After radiofrequency ablation, flecainide and remap confirmed elimination of abnormal substrate, BrS ECG pattern, and ventricular tachycardia/ventricular fibrillation inducibility. Flecainide testing was performed at each follow-up visits ≤6 months. Fourteen patients with BrS, median age 39 years (30.3–42.3) with implantable cardioverter–defibrillator were enrolled. Low-voltage areas (2 (12.1–24.2) to 28.5 cm 2 (21.6–30.2; P =0.001). Similarly, areas with abnormal electrograms increased after flecainide from 19.0 (17.5–23.6) to 27.3 cm 2 (24.0–31.2; P =0.001). After 23.8 minutes (18.1–28.5) of radiofrequency ablation, abnormal electrograms disappeared, whereas low-voltage areas were replaced by scar areas (2 (19.6–31.0). Substrate elimination resulted in BrS ECG pattern disappearance and no ventricular tachycardia/ventricular fibrillation inducibility without complications. After a median follow-up of 5 months (3.8–5.3), ECG remained normal despite flecainide. Conclusions— In patients with BrS, there is a relationship between abnormal ECG pattern, the extent of abnormal epicardial substrate, and ventricular tachycardia/ventricular fibrillation inducibility. Ablation of the substrate identified in the presence of flecainide can eliminate the BrS phenotype and warrants further study.

Published
2015

445. The use of imaging for electrophysiological and devices procedures: a report from the first European Heart Rhythm Association Policy Conference, jointly organized with the European Association of Cardiovascular Imaging (EACVI), the Council of Cardiovascular Imaging and the European Society of Cardiac Radiology

Author

Matthias Gutberlet, Angelo Auricchio, Jens Bremerich, Christian Wolpert, Karl-Heinz Kuck, Carina Blomström Lundqvist, Josep Brugada, Panos E. Vardas, Frank Rademakers, Giuseppe Boriani, José Angel Cabrera, Patrizio Lancellotti, Gerard Winkels, Herbert Frank, Hein Heidbuchel, University of Zurich, Blomström Lundqvist, Carina, Blomström Lundqvist C, Auricchio A, Brugada J, Boriani G, Bremerich J, Cabrera JA, Frank H, Gutberlet M, Heidbuchel H, Kuck KH, Lancellotti P, Rademakers F, Winkels G, Wolpert C, and Vardas PE

Subjects
Diagnostic Imaging, medicine.medical_specialty, Pacemaker, Artificial, Consensus, Cost-Benefit Analysis, MEDLINE, Cardiology, Electric Countershock, 610 Medicine & health, 11171 Cardiocentro Ticino, 2705 Cardiology and Cardiovascular Medicine, 2737 Physiology (medical), Physiology (medical), medicine, Humans, Medical physics, Reimbursement, Cardiac imaging, electrophysiological procedure, Societies, Medical, Evidence-Based Medicine, medicine.diagnostic_test, Education, Medical, business.industry, Cardiac Pacing, Artificial, imaging, Magnetic resonance imaging, Evidence-based medicine, Health Care Costs, Defibrillators, Implantable, Heart Rhythm, Europe, Positron emission tomography, electrophysiological procedures, Insurance, Health, Reimbursement, Catheter Ablation, Radiology, Cardiology and Cardiovascular Medicine, business, Electrophysiologic Techniques, Cardiac, Devices procedures
Abstract

Implantations of cardiac devices therapies and ablation procedures frequently depend on accurate and reliable imaging modalities for pre-procedural assessments, intra-procedural guidance, detection of complications, and the follow-up of patients. An understanding of echocardiography, cardiovascular magnetic resonance imaging, nuclear cardiology, X-ray computed tomography, positron emission tomography, and vascular ultrasound is indispensable for cardiologists, electrophysiologists as well as radiologists, and it is currently recommended that physicians should be trained in several imaging modalities. There are, however, no current guidelines or recommendations by electrophysiologists, cardiac imaging specialists, and radiologists, on the appropriate use of cardiovascular imaging for selected patient indications, which needs to be addressed. A Policy Conference on the use of imaging in electrophysiology and device management, with representatives from different expert areas of radiology and electrophysiology and commercial developers of imaging and device technologies, was therefore jointly organized by European Heart Rhythm Association (EHRA), the Council of Cardiovascular Imaging and the European Society of Cardiac Radiology (ESCR). The objectives were to assess the state of the level of evidence and a first step towards a consensus document for currently employed imaging techniques to guide future clinical use, to elucidate the issue of reimbursement structures and health economy, and finally to define the need for appropriate educational programmes to ensure clinical competence for electrophysiologists, imaging specialists, and radiologists.

Published
2013

446. 2012 HRS/EHRA/ECAS Expert Consensus Statement on Catheter and Surgical Ablation of Atrial Fibrillation: recommendations for patient selection, procedural techniques, patient management and follow-up, definitions, endpoints, and research trial design

Author

John P. DiMarco, Richard J. Shemin, Jonathan M. Kalman, Hiroshi Nakagawa, David J. Wilber, Jeremy N. Ruskin, Hein Heidbuchel, Paulus Kirchhof, Jennifer E. Cummings, Eric N. Prystowsky, Craig T. January, Karl-Heinz Kuck, Michel Haïssaguerre, James R. Edgerton, Hugh Calkins, David E. Haines, José Jalife, Gregory Y.H. Lip, Francis E. Marchlinski, Patrick M. McCarthy, Bruce D. Lindsay, Steven M. Markowitz, Koonlawee Nademanee, Dipen Shah, Shih Ann Chen, Koichiro Kumagai, Vivek Y. Reddy, Teo Wee Siong, Josep Brugada, Takeshi Tsuchiya, Yoshito Iesaka, Pierre Jaïs, Antonio Raviele, Mohan Nair, Michael D. Ezekowitz, Hui Nam Pak, Ralph J. Damiano, Niv Ad, Andrea Natale, David Keane, D. Wyn Davies, Stanley Nattel, Warren M. Jackman, Carlo Pappone, Panos E. Vardas, Douglas L. Packer, Hsuan Ming Tsao, Fred Morady, Moussa Mansour, Gerhard Hindricks, J. Lluis Mont, A. Mark Gillinov, I. Eli Ovsyshcher, A. John Camm, Kenneth A. Ellenbogen, Younghoon Kim, George J. Klein, Harry J.G.M. Crijns, Hans Kottkamp, Riccardo Cappato, Cardiologie, MUMC+: MA Cardiologie (9), RS: CARIM School for Cardiovascular Diseases, Calkins, H, Kuck, Kh, Cappato, R, Brugada, J, Camm, Aj, Chen, Sa, Crijns, Hj, Damiano RJ, Jr, Davies, Dw, Dimarco, J, Edgerton, J, Ellenbogen, K, Ezekowitz, Md, Haines, De, Haissaguerre, M, Hindricks, G, Iesaka, Y, Jackman, W, Jalife, J, Jais, P, Kalman, J, Keane, D, Kim, Yh, Kirchhof, P, Klein, G, Kottkamp, H, Kumagai, K, Lindsay, Bd, Mansour, M, Marchlinski, Fe, Mccarthy, Pm, Mont, Jl, Morady, F, Nademanee, K, Nakagawa, H, Natale, A, Nattel, S, Packer, Dl, Pappone, C, Prystowsky, E, Raviele, A, Reddy, V, Ruskin, Jn, Shemin, Rj, Tsao, Hm, Wilber, D, and Heart Rhythm Society Task Force on Catheter and Surgical Ablation of Atrial, Fibrillation

Subjects
Male, Research design, medicine.medical_specialty, Endpoint Determination, International Cooperation, medicine.medical_treatment, Advisory Committees, Ablation of atrial fibrillation, MEDLINE, Catheter ablation, Risk Assessment, Physiology (medical), Germany, Terminology as Topic, Health care, Atrial Fibrillation, medicine, Humans, Intensive care medicine, Societies, Medical, health care economics and organizations, Clinical Trials as Topic, business.industry, General surgery, Patient Selection, Expert consensus, Cardiac arrhythmia, Surgical ablation, Atrial fibrillation, Ablation, medicine.disease, Survival Analysis, Surgery, Patient management, Clinical trial, Catheter, Treatment Outcome, Research Design, Practice Guidelines as Topic, Longstanding persistent atrial fibrillation, Catheter Ablation, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract

During the past decade, catheter ablation of atrial fibrillation (AF) has evolved rapidly from an investigational procedure to its current status as a commonly performed ablation procedure in many major hospitals throughout the world. Surgical ablation of AF, using either standard or minimally invasive techniques, is also performed in many major hospitals throughout the world. In 2007, an initial Consensus Statement on Catheter and Surgical AF Ablation was developed as a joint effort of the Heart Rhythm Society, the European Heart Rhythm Association, and the European Cardiac Arrhythmia Society.1 The 2007 document was also developed in collaboration with the Society of Thoracic Surgeons and the American College of Cardiology. Since the publication of the 2007 document, there has been much learned about AF ablation, and the indications for these procedures have changed. Therefore the purpose of this 2012 Consensus Statement is to provide a state-of-the-art review of the field of catheter and surgical ablation of AF and to report the findings of a Task Force, convened by the Heart Rhythm Society, the European Heart Rhythm Association, and the European Cardiac Arrhythmia Society and charged with defining the indications, techniques, and outcomes of this procedure. Included within this document are recommendations pertinent to the design of clinical trials in the field of AF ablation, including definitions relevant to this topic. This statement summarizes the opinion of the Task Force members based on an extensive literature review as well as their own experience. It is directed to all health care professionals who are involved in the care of patients with AF, particularly those who are undergoing, or are being considered for, catheter or surgical ablation procedures for AF. This statement is not intended to recommend or promote catheter ablation of AF. Rather the ultimate judgment regarding care of a particular patient …

Published
2012

447. Healthcare personnel resource burden related to in-clinic follow-up of cardiovascular implantable electronic devices: a European Heart Rhythm Association and Eucomed joint survey

Author

Paulus Kirchhof, Angelo Auricchio, Panos E. Vardas, Giuseppe Boriani, Josep Brugada, Catherine Klersy, John M. Morgan, Boriani G, Auricchio A, Klersy C, Kirchhof P, Brugada J, Morgan J, and Vardas P

Subjects
Pacemaker, Artificial, Outpatient Clinics, Hospital, Databases, Factual, medicine.medical_treatment, Cardiac resynchronization therapy, MEDLINE, Allied Health Personnel, Cardiology, CARDIAC RESYNCHRONIZATION THERAPY, FOLLOW UP, PACEMAKER, IMPLANTABLE CARDIOVERTER DEFIBRILLATOR, Cardiac Resynchronization Therapy, Appointments and Schedules, Resource (project management), Physiology (medical), Health care, medicine, Outpatient clinic, Humans, Health Workforce, Specialties, Nursing, business.industry, Technician, medicine.disease, Defibrillators, Implantable, Heart Rhythm, Europe, Health Care Surveys, Resource use, Medical emergency, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract

Aims A pilot European survey was conducted to assess the cumulative time spent by healthcare personnel for in-office follow-up of cardiac implantable electrical devices (CIEDs), including cardiac pacemakers, implantable cardioverter-defibrillators, and cardiac resynchronization therapy (CRT) devices. Methods and results Resource use data were collected during a session of in-clinic follow-up. Among 407 visits, 93% were scheduled and 7% unscheduled. Visit duration (total cumulative time) lasted a mean of 27 min for scheduled visits, and was ∼30% longer for unscheduled visits. Independent determinants of visit duration were: unscheduled visit (+7.6 min, P = 0.01), the need for device reprogramming (+7.5 min, P < 0.001), and the type of device checked, with CRT devices needing 9.1 and 6.6 more minutes than single- ( P < 0.001) and dual-chamber devices ( P = 0.002), respectively. Most visits involved two different types of healthcare personnel (239 of 407, 59%), simultaneously. The most frequent combination was the involvement of both a cardiologist and a nurse (216 of 407 visits with both of them only, and 65 additional visits with also an internal technician, an external technician, or both). Overall, an external technician was involved in 18% of visits. Conclusions In ‘real-world’ practice, the follow-up of CIEDs nowadays requires important resources in terms of time dedicated by specialized personnel, corresponding to cardiologists, nurses, internal technicians, and external, industry-employed technicians. These observations should be the basis for addressing clinical, organizational, financial, and policy initiatives targeted to optimize follow-up procedures in order to face the increase in the number of patients treated with CIEDs expected for the next years.

Published
2011

449. aTrial arrhythmias in inhEriTed aRrhythmIa Syndromes: results from the TETRIS study.

Author

Conte G, Bergonti M, Probst V, Morita H, Tfelt-Hansen J, Behr ER, Kengo K, Arbelo E, Crotti L, Sarquella-Brugada G, Wilde AAM, Calò L, Sarkozy A, de Asmundis C, Mellor G, Migliore F, Letsas K, Vicentini A, Levinstein M, Berne P, Chen SA, Veltmann C, Biernacka EK, Carvalho P, Kabawata M, Sojema K, Gonzalez MC, Tse G, Thollet A, Svane J, Caputo ML, Scrocco C, Kamakura T, Pardo LF, Lee S, Juárez CK, Martino A, Lo LW, Monaco C, Reyes-Quintero ÁE, Martini N, Oezkartal T, Klersy C, Brugada J, Schwartz PJ, Brugada P, Belhassen B, and Auricchio A

Abstract

Background: Little is known about the distribution and clinical course of patients with inherited arrhythmia syndrome (IAS) and concomitant atrial arrhythmias (AAs)., Aim: 1) to characterize the distribution of AAs in patients with IAS and 2) evaluate the long-term clinical course of these patients., Methods: An international multicenter study was performed and involved 28 centers in 16 countries. Inclusion criteria were: 1) IAS and 2) ECG documentation of AAs. The primary endpoint was a composite of sudden cardiac death, sustained VAs or appropriate ICD interventions. Strokes, inappropriate ICD shocks due to AAs, and the occurrence of sinus node dysfunction were assessed., Results: A total of 522 patients with IAS and AAs were included. Most patients were diagnosed with Brugada syndrome (n=355, 68%) and long-QT syndrome (n=93, 18%). The remaining patients (n=71, 14%) presented with short-QT syndrome, early repolarization syndrome (ERS), catecholaminergic polymorphic ventricular tachycardia (CPVT), progressive cardiac conduction diseases, or idiopathic ventricular fibrillation. Atrial fibrillation (AF) was the most prevalent AA (82%), followed by atrial flutter (9%) and atrial tachycardia (9%). AA was the first clinical manifestation of IAS in 52% of patients. More than one type of AAs was documented in 23% of patients. Nine patients (3%) experienced VA before the diagnosis of IAS, due the use of anti-arrhythmic medications taken for the AA. The incidence of the primary endpoint was 1.4% per year, with a twofold increase observed in patients who experienced their first AA before the age of 20 (OR 2.2, p=0.043). This was consistent across the different forms of IAS. Inappropriate ICD shock due to AAs were reported in 2.8% of patients, strokes in 4.4% and sinus node dysfunction in 9.6%., Conclusions: Among patients with IAS and AAs, AA is the first clinical manifestation in about half of the cases, with more than one form of AAs present in one-fourth of the patients. The occurrence of AA earlier in life may be associated with a higher risk of ventricular arrhythmias. The occurrence of stroke and sinus node dysfunction is not-infrequently in this cohort., (© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Published
2024
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450. Prognostic significance of electrophysiological study in drug-induced type-1 Brugada syndrome: a brief systematic review.

Author

Mascia G, Brugada J, Barca L, Benenati S, Della Bona R, Scarà A, Russo V, Arbelo E, Di Donna P, and Porto I

Subjects
Humans, Prognosis, Electrophysiologic Techniques, Cardiac, Risk Assessment, Electrocardiography, Risk Factors, Male, Female, Action Potentials drug effects, Predictive Value of Tests, Middle Aged, Brugada Syndrome physiopathology, Brugada Syndrome diagnosis, Brugada Syndrome chemically induced
Abstract

Background: Risk stratification in drug-induced type-1 Brugada syndrome (BrS) patients is challenging. The role of electrophysiological study (EPS) is debated as the majority of drug-induced type-1 BrS patients would not be studied according to the latest recommendations., Methods: A complete systematic literature search was performed to gauge the EPS role in this population. Three subgroups were defined: positive-EPS group, negative-EPS group, no-EPS group., Results: Among 1318 drug-induced type-1 BrS patients, no significant difference in the incidence rate of arrhythmic events was observed between groups (I2 = 45%, P for subgroup difference = 0.10) during a mean follow-up of 5.1 years, also considering symptomatic status., Conclusion: In long-term follow-up of drug-induced type-1 BrS patients, EPS does not seem to aid prognostic stratification., (Copyright © 2024 Italian Federation of Cardiology - I.F.C. All rights reserved.)

Published
2024
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