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1. Novel insights on Andersen-Tawil syndrome type 1

Author

Mazzanti, A, Guz, D, Trancuccio, A, Pagan, E, Chargeishvili, T, Biernacka, EK, Sacilotto, L, Zorio, E, Sarquella-Brugada G, Nof, E, Anastasakis, A, Sansone, V, Jimenez-Jaimez, J, Cruz, F, Priori, SG, and ATS1 Int Res Grp

Published
2020

2. Atrial fibrillation history impact on catheter ablation outcome. Findings from the ESC-EHRA Atrial Fibrillation Ablation Long-Term Registry

Author

Stabile, G., Trines, S.A., Arbelo, E., Dagres, N., Brugada, J., Kautzner, J., Pokushalov, E., Maggioni, A.P., Laroche, C., Anselmino, M., Beinart, R., Traykov, V., Lundqvist, C.B., Steinwender, C., Chasnoits, A., Mairesse, G., Balabanski, T., Riahi, S., Nawar, M., Maaty, M.A. el, Raatikainen, P., Anselme, F., Lewalter, T., Brodherr, T., Efremidis, M., Geller, L., Glover, ben, Glikson, M., Gaita, F., Rekvava, R., Kalejs, O., Trines, S., Kalarus, Z., Oliveira, M.M., Adra-Gao, P., Ciudin, R., Mikhaylov, E., Sinkovec, M., Villacastin, J.P., Blomstrom-Lundqvist, C., Sychov, O., Roberts, P., Scherr, G.D.D., Manninger, M., Mastnak, B., Pachinger, O., Hintringer, F., Stuhlinger, M., Steinwender, L.C., Xhaet, Y.O., Shalganov, S.T., Stoyanov, M., Protich, M., Traykov, S.V., Marchov, D., Kaninski, G., Chasnoits, M.A., Cihak, R., Haman, K.L., Schmidt, B., Chun, K.R.J., Perrotta, L., Bordignon, S., Tilz, R., Willems, S., Hindricks, G., Koutsouraki, I.S., Sorensen, B.G., Galal, C.W., AbdelWahab, A., Mokhtar, C.S.S., Ortega, I.G., Martinez, J.G.M., Calatrava, M.D., Sabate, R.V., Girbau, L.M., Arcocha, M.F., Gaztanaga, L., Zamarreno, E., Alvarez, M., Macias, R., Villalobos, F.S., Perez, J.C.R., Castellano, N.P., Canadas, V., Ferrer, J.J.G., Filgueiras, D., Campal, J.M.R., Sanchez-Borque, P., Benezet-Mazuecos, J., Ramos, J.T., Lozano, F., Urda, V.C., Cordero, A.B., Palomo, C.M., Ruiz-Salas, A., Alzueta, J., Peinado, R., Filqueiras-Rama, D., Gallanti, A.G., Garofalo, D., Calvo, N., Antolin, J.J.O., Pedrote, A., Arana-Rueda, E., Garcia-Riesco, L., Lund, J., Defaye, P., Jacon, P., Venier, S., Dugenet, F., Piot, O., Copie, X., Paziaud, O., Lepillier, A., Costa, A. da, Romeyer-Bouchard, C., Boveda, S., Albenque, J.P., Combes, N., Combes, S., Ferracci, A., Pisapia, A., Katritsis, D., Letsas, K., Vlachos, K., Lioni, L., Vassilikos, V.P., Szegedi, N., Szeplaki, G., Tahin, T., Csanadi, Z., Sandorfi, G., Kiss, A., Nagy-Balo, E., Saghy, L., Glover, B.M., Galvin, J., Keelan, E., Nof, E., Grimaldi, M., Quadrini, F., Monaco, A. di, Troisi, F., Tritto, M., Renzullo, E., Sanzo, A., Zagari, D., Pappone, C., Agricola, P.M.G., Bella, P. della, Iuliano, A., Bongiorni, M.G., Calo, L., Ruvo, E. de, Sciarra, L., Ferraris, F., Ponti, R. de, Marazzi, R., Doni, L.A., Kim, A., Molhoek, S., Gelder, I. van, Rienstra, M., Compier, M.G., Pison, L., Crijns, H.J., Vernooy, K., Luermans, J., Jordaens, L., Groot, N. de, Szili-Torok, T., Bhagwandien, R., Elvan, Z.A., Buist, T., Gal, P., Lubinski, A., Krolak, T., Nowak, S., Mizia-Stec, K., Wnuk-Wojnar, A.M., Lelakowski, J., Kazmierczak, J., Kulakowski, P., Baran, J., Opolski, G., Kiliszek, M., Lodzinski, P., Borodzicz, S., Balsam, P., Blaszyk, K., Pytkowski, M., Kuteszko, R., Ciszewski, J., Fuglewicz, A., Wozniak, A., Adamczyk, K., Adragao, P., Cunha, P., Grecu, I.M., Tinica, G., Muresan, L., Rosu, R., Khomenko, E., Romanov, A., Bayramova, S., Mikhaylov, E.N., Lebedev, D.S., Patsouk, A.V., Yashin, S., Kryzhanovskiy, D., Bazayev, S.V., Morgunov, D., Silin, I., Popov, S., Kuznetsov, V., Jonsson, A., Platonov, P., Holmqvist, F., Kongstad, O., Yuan, S., Hoglund, N., Malmborg, H., Mortsell, D., Pernat, A., Morgan, J., Greenwood, E.F., Fletcher, L.L., Kravchenko, D.T., Doronin, A., Meshkova, M., Karpenko, I., Goryatchiy, A., Abramova, A., and ESC-EHRA Atrial Fibrillation Abla

Subjects
Male, medicine.medical_specialty, medicine.medical_treatment, Catheter ablation, 030204 cardiovascular system & hematology, recurrence predictors, Coronary artery disease, 03 medical and health sciences, mid-term outcome, 0302 clinical medicine, Recurrence, Internal medicine, Atrial Fibrillation, medicine, Humans, 030212 general & internal medicine, Prospective Studies, Registries, atrial fibrillation duration, business.industry, Hypertrophic cardiomyopathy, atrial fibrillation, catheter ablation, Cardiology and Cardiovascular Medicine, Atrial fibrillation, General Medicine, Middle Aged, medicine.disease, Ablation, Log-rank test, Outcome and Process Assessment, Health Care, Cohort, Cardiology, Catheter Ablation, Female, business, Kidney disease
Abstract

Background Atrial fibrillation (AF) promotes atrial remodeling that in turn promotes AF perpetuation. The aim of our study is to investigate the impact of AF history length on 1-year outcome of AF catheter ablation in a cohort of patients enrolled in the Atrial Fibrillation Ablation Registry. Methods We described the real-life clinical epidemiology, therapeutic strategies, and the short- and mid-term outcomes of 1948 patients (71.9% with paroxysmal AF) undergoing AF ablation procedures, stratified according to AF history duration (= 2 years). Results The mean AF history duration was 46.2 +/- 57.4 months, 592 patients had an AF history duration = 2 years (mean 75.5 +/- 63.5 months) (P < 0.001). Patients with AF history duration = 2 years (34.0%) (P = 0.037). AF history duration >= 2 years, overall ablation procedure duration, hypertension, and chronic kidney disease were all predictors of recurrences after the blanking period. Conclusions In this multicenter registry, performing catheter ablation in patients with an AF history >= 2 years was associated with higher rates of AF recurrences at 1 year. Since cumulative time in AF in not necessarily equivalent to AF history, its role remains to be clarified.

Published
2018

4. Mortality during transvenous lead extraction: is there a difference between laser sheaths and rotating sheaths?

Author

Eyal Nof, Igor Diemberger, Christopher A. Rinaldi, Samer Hakmi, Pascal Defaye, Defaye P., Diemberger I., Rinaldi C.A., Hakmi S., and Nof E.

Subjects
Pacemaker, Artificial, Consensus, business.industry, Extraction (chemistry), Laser, law.invention, Transvenous lead, Defibrillators, Implantable, law, Physiology (medical), Medicine, Atrial Appendage, Cardiology and Cardiovascular Medicine, business, lead extraction, laser sheaths, Biomedical engineering, Lead extraction
Abstract

No abstract available

Published
2019

5. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

Author

Eyal Nof, Fernando E.S. Cruz, Victor Expósito-García, Luciana Sacilotto, Andrea Mazzanti, Jessica Sánchez-Quiñones, Elżbieta Katarzyna Biernacka, Esther Zorio, Deni Kukavica, Carmen Muñoz-Esparza, Julio Hernandez-Afonso, Elisa Tavazzani, Oscar Campuzano, Asaf Danon, Juan Jiménez-Jáimez, Martín Ortiz, Tekla Chargeishvili, Lorenzo Monserrat, Agnieszka Zienciuk-Krajka, Aristides Anastasakis, Carlo Napolitano, Eleonora Pagan, Maira Marino, Dmitri Guz, Amaya Garcia-Fernandez, Mirella Memmi, Beata Średniawa, Natália Olivetti, Valeria A. Sansone, Rumen Marinov, Georgia Sarquella-Brugada, Maite Izquierdo, Nicola Monteforte, Raffaella Bloise, María Eugenia Fuentes, Irena Andršová, Vincenzo Bagnardi, Silvia G. Priori, Alessandro Trancuccio, Anastasia Garoufi, Mazzanti, A, Guz, D, Trancuccio, A, Pagan, E, Kukavica, D, Chargeishvili, T, Olivetti, N, Biernacka, E, Sacilotto, L, Sarquella-Brugada, G, Campuzano, O, Nof, E, Anastasakis, A, Sansone, V, Jimenez-Jaimez, J, Cruz, F, Sanchez-Quinones, J, Hernandez-Afonso, J, Fuentes, M, Sredniawa, B, Garoufi, A, Andrsova, I, Izquierdo, M, Marinov, R, Danon, A, Exposito-Garcia, V, Garcia-Fernandez, A, Munoz-Esparza, C, Ortiz, M, Zienciuk-Krajka, A, Tavazzani, E, Monteforte, N, Bloise, R, Marino, M, Memmi, M, Napolitano, C, Zorio, E, Monserrat, L, Bagnardi, V, and Priori, S

Subjects
Male, Databases, Factual, Amiodarone, 030204 cardiovascular system & hematology, Sudden cardiac death, Electrocardiography, 0302 clinical medicine, Interquartile range, genetics, 030212 general & internal medicine, Child, sudden cardiac death, genetics, inherited arrhythmias, KCNJ2, life-threatening arrhythmic events, Andersen Syndrome, Muscle Weakness, Hazard ratio, Middle Aged, 3. Good health, Defibrillators, Implantable, Natural history, Child, Preschool, Risk stratification, Cohort, Female, Cardiology and Cardiovascular Medicine, Anti-Arrhythmia Agents, inherited arrhythmias, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Adrenergic beta-Antagonists, Risk Assessment, sudden cardiac death, Syncope, life- threatening arrhythmic events, 03 medical and health sciences, Young Adult, Andersen–Tawil syndrome, Internal medicine, medicine, Humans, Genetic Testing, KCNJ2, Potassium Channels, Inwardly Rectifying, KCNJ2, genetics, inherited arrhythmias, life-threatening arrhythmic events, sudden cardiac death, business.industry, Infant, Arrhythmias, Cardiac, medicine.disease, life-threatening arrhythmic events, Death, Sudden, Cardiac, Mutation, Tachycardia, Ventricular, business
Abstract

BACKGROUND Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. OBJECTIVES This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. METHODS Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. RESULTS We enrolled 118 patients with ATS1 from 57 families (age 23 +/- 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). CONCLUSIONS Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1. (C) 2020 Published by Elsevier on behalf of the American College of Cardiology Foundation.

Published
2019

6. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

Author

Eyal Nof, Sofía Cuenca, Juan Pablo Trujillo, Juan Ramón Gimeno-Blanes, Laura Padron-Barthe, Iria Duro-Aguado, Lorenzo Monserrat, Fernando Dominguez, Esther Zorio, Diego García-Giustiniani, Jorge Rodriguez-Garrido, Martin Ortiz-Genga, Vicente Climent, Matteo Dal Ferro, Michael Arad, Marco Merlo, Davide Stolfo, Pablo García-Pavía, Ricardo Salgado-Aranda, Víctor M. Hidalgo-Olivares, Sonia Marcos-Alonso, Enrique Lara-Pezzi, Juan Jiménez-Jáimez, Leonardo Calò, M. Paz Suárez-Mier, Pilar Molina, Hagith Yonath, Roberto Barriales-Villa, Maria Luisa Peña, Chiara Lanzillo, José L. Santomé, Juan Pablo Ochoa, Enrique García-Campo, Francisco E. Calvo-Iglesias, Alicia Martín-Vila, Julián Palomino, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Ortiz-Genga, Mf, Cuenca, S, Dal Ferro, M, Zorio, E, Salgado-Aranda, R, Climent, V, Padrón-Barthe, L, Duro-Aguado, I, Jiménez-Jáimez, Hidalgo-Olivares, Vm, García-Campo, E, Lanzillo, C, Suárez-Mier, Mp, Yonath, H, Marcos-Alonso, S, Ochoa, Jp, Santomé, Jl, García-Giustiniani, D, Rodríguez-Garrido, Jl, Domínguez, F, Merlo, M, Palomino, J, Peña, Ml, Trujillo, Jp, Martín-Vila, A, Stolfo, D, Molina, P, Lara-Pezzi, E, Calvo-Iglesias, Fe, Nof, E, Calò, L, Barriales-Villa, Gimeno-Blanes, Jr, Arad, M, García-Pavía, P, Monserrat, L, [Ortiz-Genga, Martin F.] Inst Invest Biomed INIBIC, La Coruna, Spain, [Barriales-Villa, Roberto] Inst Invest Biomed INIBIC, La Coruna, Spain, [Monserrat, Lorenzo] Inst Invest Biomed INIBIC, La Coruna, Spain, [Ortiz-Genga, Martin F.] Hlth Code SL, La Coruna, Spain, [Ochoa, Juan P.] Hlth Code SL, La Coruna, Spain, [Santome, Jose L.] Hlth Code SL, La Coruna, Spain, [Garcia-Giustiniani, Diego] Hlth Code SL, La Coruna, Spain, [Rodriguez-Garrido, Jorge L.] Hlth Code SL, La Coruna, Spain, [Trujillo, Juan P.] Hlth Code SL, La Coruna, Spain, [Monserrat, Lorenzo] Hlth Code SL, La Coruna, Spain, [Cuenca, Sofia] Hosp Univ Puerta de Hierro Majadahonda, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain, [Dominguez, Fernando] Hosp Univ Puerta de Hierro Majadahonda, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain, [Garcia-Pavia, Pablo] Hosp Univ Puerta de Hierro Majadahonda, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain, [Dal Ferro, Matteo] Azienda Osped Univ Osped Riuniti, Cardiovasc Dept, Trieste, Italy, [Merlo, Marco] Azienda Osped Univ Osped Riuniti, Cardiovasc Dept, Trieste, Italy, [Stolfo, Davide] Azienda Osped Univ Osped Riuniti, Cardiovasc Dept, Trieste, Italy, [Zorio, Esther] Hosp Univ & Politecn La Fe, Valencia, Spain, [Salgado-Aranda, Ricardo] Hosp Univ Burgos, Burgos, Spain, [Climent, Vicente] Hosp Gen Univ Alicante, Alicante, Spain, [Padron-Barthe, Laura] Ctr Nacl Invest Cardiovasc, Myocardial Pathophysiol Area, Madrid, Spain, [Lara-Pezzi, Enrique] Ctr Nacl Invest Cardiovasc, Myocardial Pathophysiol Area, Madrid, Spain, [Duro-Aguado, Iria] Hosp Clin Univ Valladolid, Valladolid, Spain, [Jimenez-Jaimez, Juan] Hosp Univ Virgen de las Nieves, Granada, Spain, [Hidalgo-Olivares, Victor M.] Complejo Hosp Univ Albacete, Albacete, Spain, [Garcia-Campo, Enrique] Complexo Hosp Univ Vigo, Vigo, Spain, [Palomino, Julian] Complexo Hosp Univ Vigo, Vigo, Spain, [Martin-Vila, Alicia] Complexo Hosp Univ Vigo, Vigo, Spain, [Calvo-Iglesias, Francisco E.] Complexo Hosp Univ Vigo, Vigo, Spain, [Lanzillo, Chiara] ASL Roma B, Policlin Casilino, Rome, Italy, [Calo, Leonardo] ASL Roma B, Policlin Casilino, Rome, Italy, [Suarez-Mier, M. Paz] Inst Nacl Toxicol & Ciencias Forenses, Madrid, Spain, [Yonath, Hagith] Tel Aviv Univ, Sheba Med Ctr, IL-69978 Tel Aviv, Israel, [Nof, Eyal] Tel Aviv Univ, Sheba Med Ctr, IL-69978 Tel Aviv, Israel, [Arad, Michael] Tel Aviv Univ, Sheba Med Ctr, IL-69978 Tel Aviv, Israel, [Yonath, Hagith] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel, [Nof, Eyal] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel, [Arad, Michael] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel, [Marcos-Alonso, Sonia] Univ A Coruna, Serv Galego Saude SERGAS, Complexo Hospo Univ A Coruna, La Coruna, Spain, [Rodriguez-Garrido, Jorge L.] Univ A Coruna, Serv Galego Saude SERGAS, Complexo Hospo Univ A Coruna, La Coruna, Spain, [Barriales-Villa, Roberto] Univ A Coruna, Serv Galego Saude SERGAS, Complexo Hospo Univ A Coruna, La Coruna, Spain, [Pena, Maria L.] Hosp Univ Virgen del Rocio, Seville, Spain, [Molina, Pilar] Inst Med Legal, Serv Patol, Valencia, Spain, [Lara-Pezzi, Enrique] Imperial Coll London, Natl Heart & Lung Inst, London, England, [Gimeno-Blanes, Juan R.] Hosp Univ Virgen de la Arrixaca, Murcia, Spain, [Garcia-Pavia, Pablo] Francisco de Vitoria Univ, Madrid, Spain, Spanish Ministry of Economy and Competitiveness, Plan Nacional de I+D+I, Plan Estatalde I+D+I, European Regional Development Fund, and Health in Code SL

Subjects
0301 basic medicine, Proband, Male, Myopathy, genotype, DNA Mutational Analysis, Arrhythmogenic cardiomyopathy, Dilated cardiomyopathy, Filamin, Actin-binding protein, Sudden cardiac death, Risk Factors, FLNC, filaminopathy, Child, Hypertrophic cardiomyopathy, ventricular arrhythmia, Middle Aged, Penetrance, Immunohistochemistry, Child, Preschool, Cardiology, Muscle, Female, Cardiology and Cardiovascular Medicine, Cardiomyopathies, prognosi, Adult, medicine.medical_specialty, Adolescent, Filamins, sudden death, Sudden death, 03 medical and health sciences, Young Adult, Filamin c cause, Internal medicine, medicine, Humans, Domain, Aged, Retrospective Studies, business.industry, Infant, DNA, medicine.disease, 030104 developmental biology, Mutation, Tachycardia, Ventricular, prognosis, business, Isoforms, filamin C
Abstract

BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies. METHODS: FLNC was studied using next-generation sequencing in 2,877 patients with inherited cardiovascular diseases. A characteristic phenotype was identified in probands with truncating mutations in FLNC. Clinical and genetic evaluation of 28 affected families was performed. Localization of filamin C in cardiac tissue was analyzed in patients with truncating FLNC mutations using immunohistochemistry. RESULTS: Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restrictive cardiomyopathies. Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients with hypertrophic cardiomyopathy. Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias (82%); and frequent sudden cardiac death (40 cases in 21 of 28 families). Clinical skeletal myopathy was not observed. Penetrance was >97% in carriers older than 40 years. Truncating mutations in FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the odds score: 9.5). Immunohistochemical staining of myocardial tissue showed no abnormal filamin C aggregates in patients with truncating FLNC mutations. CONCLUSIONS: Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC. Instituto de Salud Carlos III [PI11/0699, PI14/0967, PI14/01477, RD012/0042/0029, RD012/0042/0049, RD012/0042/0066, RD12/0042/0069]; Spanish Ministry of Economy and Competitiveness [SAF2015-71863-REDT]; Plan Nacional de I+D+I; Plan Estatalde I+D+I, European Regional Development Fund; Health in Code SL Sí

Published
2016

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