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27 results on '"Arbustini, Eloisa"'

1. Acute necrotizing eosinophilic myocarditis presenting with cardiogenic shock after mRNA booster dose for COVID-19: Case report and review of literature

Author

Abete, Raffaele, Valastro, Pietro, Iacovoni, Attilio, Vittori, Claudia, Arbustini, Eloisa, Pellicioli, Federica, Schiavo, Alessandra, Grazioli, Lorenzo Stephan Cesare, Lorini, Ferdinando Luca, and Senni, Michele

Subjects
Case Report, Cardiology and Cardiovascular Medicine
Abstract

Eosinophilic myocarditis is a rare subtype of myocarditis characterized by myocardial eosinophilic infiltration, and it is potentially lethal if untreated. In its severest form, acute eosinophilic necrotizing myocarditis may lead to cardiac dysfunction and cardiogenic shock. Several cases have been reported after coronavirus disease 2019 (COVID-19) vaccination, but the pathophysiology is still unclear. We describe a case of acute necrotizing eosinophilic myocarditis complicated by cardiogenic shock in a 33-year-old man after booster dose of mRNA COVID-19 vaccine. The patient was diagnosed with endomyocardial biopsy, successfully treated with steroids, and discharged on Day 20 after admission in stable condition. In short term follow-up, he was asymptomatic with normal left and right ventricular ejection fraction. LEARNING OBJECTIVES: Eosinophilic myocarditis (EM) still has a high morbidity and mortality, so it is crucial to promptly diagnose it and treat as appropriate. Endomyocardial biopsy is the gold standard for the diagnosis of EM. This case highlights the diagnostic work-up, differential diagnosis of hypereosinophilia, and the management of this life-threatening condition.

Published
2023

2. Evaluation of Oxidative Stress and Metabolic Profile in a Preclinical Kidney Transplantation Model According to Different Preservation Modalities

Author

Mrakic-Sposta Simona, Vezzoli Alessandra, Cova Emanuela, Ticcozzelli Elena, Montorsi Michela, Greco Fulvia, Sepe Vincenzo, Benzoni Ilaria, Meloni Federica, Arbustini Eloisa, Abelli Massimo, and Gussoni Maristella

Subjects
Inorganic Chemistry, Organic Chemistry, General Medicine, kidney transplant, hypothermic machine perfusion, organ preservation, ROS, metabolomic, EPR, 1H-NMR, oxidative damage, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy, Catalysis, Computer Science Applications
Abstract

This study addresses a joint nuclear magnetic resonance (NMR) and electron paramagnetic resonance (EPR) spectroscopy approach to provide a platform for dynamic assessment of kidney viability and metabolism. On porcine kidney models, ROS production, oxidative damage kinetics, and metabolic changes occurring both during the period between organ retrieval and implantation and after kidney graft were examined. The 1H-NMR metabolic profile—valine, alanine, acetate, trimetylamine-N-oxide, glutathione, lactate, and the EPR oxidative stress—resulting from ischemia/reperfusion injury after preservation (8 h) by static cold storage (SCS) and ex vivo machine perfusion (HMP) methods were monitored. The functional recovery after transplantation (14 days) was evaluated by serum creatinine (SCr), oxidative stress (ROS), and damage (thiobarbituric-acid-reactive substances and protein carbonyl enzymatic) assessments. At 8 h of preservation storage, a significantly (p < 0.0001) higher ROS production was measured in the SCS vs. HMP group. Significantly higher concentration data (p < 0.05–0.0001) in HMP vs. SCS for all the monitored metabolites were found as well. The HMP group showed a better function recovery. The comparison of the areas under the SCr curves (AUC) returned a significantly smaller (−12.5 %) AUC in the HMP vs. SCS. EPR-ROS concentration (μmol·g−1) from bioptic kidney tissue samples were significantly lower in HMP vs. SCS. The same result was found for the NMR monitored metabolites: lactate: −59.76%, alanine: −43.17%; valine: −58.56%; and TMAO: −77.96%. No changes were observed in either group under light microscopy. In conclusion, a better and more rapid normalization of oxidative stress and functional recovery after transplantation were observed by HMP utilization.

Published
2023

3. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

Author

Lopes, Luis R, Losi, Maria-Angela, Sheikh, Nabeel, Laroche, Cécile, Charron, Philippe, Gimeno, Juan, Kaski, Juan P, Maggioni, Aldo P, Tavazzi, Luigi, Arbustini, Eloisa, Brito, Dulce, Celutkiene, Jelena, Hagege, Albert, Linhart, Ales, Mogensen, Jens, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomas, Seggewiss, Hubert, Villacorta, Eduardo, Caforio, Alida, Elliott, Perry M, Komissarova, S, Chakova, N, Niyazova, S, Linhart, A, Kuchynka, P, Palecek, T, Podzimkova, J, Fikrle, M, Nemecek, E, Bundgaard, H, Tfelt-Hansen, J, Theilade, J, Thune, J J, Axelsson, A, Mogensen, J, Henriksen, F, Hey, T, Nielsen, S K, Videbaek, L, Andreasen, S, Arnsted, H, Saad, A, Ali, M, Lommi, J, Helio, T, Nieminen, M S, Dubourg, O, Mansencal, N, Arslan, M, Tsieu, V Siam, Damy, T, Guellich, A, Guendouz, S, Tissot, C M, Lamine, A, Rappeneau, S, Hagege, A, Desnos, M, Bachet, A, Hamzaoui, M, Charron, P, Isnard, R, Legrand, L, Maupain, C, Gandjbakhch, E, Kerneis, M, Pruny, J-F, Bauer, A, Pfeiffer, B, Felix, S B, Dorr, M, Kaczmarek, S, Lehnert, K, Pedersen, A-L, Beug, D, Bruder, M, Böhm, M, Kindermann, I, Linicus, Y, Werner, C, Neurath, B, Schild-Ungerbuehler, M, Seggewiss, H, Neugebauer, A, Mckeown, P, Muir, A, Mcosker, J, Jardine, T, Divine, G, Elliott, P, Lorenzini, M, Watkinson, O, Wicks, E, Iqbal, H, Mohiddin, S, O'Mahony, C, Sekri, N, Carr-White, G, Bueser, T, Rajani, R, Clack, L, Damm, J, Jones, S, Sanchez-Vidal, R, Smith, M, Walters, T, Wilson, K, Rosmini, S, Anastasakis, A, Ritsatos, K, Vlagkouli, V, Forster, T, Sepp, R, Borbas, J, Nagy, V, Tringer, A, Kakonyi, K, Szabo, L A, Maleki, M, Bezanjani, F Noohi, Amin, A, Naderi, N, Parsaee, M, Taghavi, S, Ghadrdoost, B, Jafari, S, Khoshavi, M, Rapezzi, C, Biagini, E, Corsini, A, Gagliardi, C, Graziosi, M, Longhi, S, Milandri, A, Ragni, L, Palmieri, S, Olivotto, I, Arretini, A, Castelli, G, Cecchi, F, Fornaro, A, Tomberli, B, Spirito, P, Devoto, E, Bella, P Della, Maccabelli, G, Sala, S, Guarracini, F, Peretto, G, Russo, M G, Calabro, R, Pacileo, G, Limongelli, G, Masarone, D, Pazzanese, V, Rea, A, Rubino, M, Tramonte, S, Valente, F, Caiazza, M, Cirillo, A, Del Giorno, G, Esposito, A, Gravino, R, Marrazzo, T, Trimarco, B, Losi, M-A, Nardo, C Di, Giamundo, A, Musella, F, Pacelli, F, Scatteia, A, Canciello, G, Caforio, A, Iliceto, S, Calore, C, Leoni, L, Marra, M Perazzolo, Rigato, I, Tarantini, G, Schiavo, A, Testolina, M, Arbustini, E, Toro, A Di, Giuliani, L P, Serio, A, Fedele, F, Frustaci, A, Alfarano, M, Chimenti, C, Drago, F, Baban, A, Calò, L, Lanzillo, C, Martino, A, Uguccioni, M, Zachara, E, Halasz, G, Re, F, Sinagra, G, Carriere, C, Merlo, M, Ramani, F, Kavoliuniene, A, Krivickiene, A, Tamuleviciute-Prasciene, E, Viezelis, M, Celutkiene, J, Balkeviciene, L, Laukyte, M, Paleviciute, E, Pinto, Y, Wilde, A, Asselbergs, F W, Sammani, A, Van Der Heijden, J, Van Laake, L, De Jonge, N, Hassink, R, Kirkels, J H, Ajuluchukwu, J, Olusegun-Joseph, A, Ekure, E, Mizia-Stec, K, Tendera, M, Czekaj, A, Sikora-Puz, A, Skoczynska, A, Wybraniec, M, Rubis, P, Dziewiecka, E, Wisniowska-Smialek, S, Bilinska, Z, Chmielewski, P, Nieradko, B Foss, Michalak, E, Stepien-Wojno, M, Mazek, B, Lopes, L Rocha, Almeida, A R, Cruz, I, Gomes, A C, Pereira, A R, Brito, D, Madeira, H, Francisco, A R, Menezes, M, Moldovan, O, Guimaraes, T Oliveira, Silva, D, Ginghina, C, Jurcut, R, Mursa, A, Popescu, B A, Apetrei, E, Militaru, S, Coman, I Mircea, Frigy, A, Fogarasi, Z, Kocsis, I, Szabo, I A, Fehervari, L, Nikitin, I, Resnik, E, Komissarova, M, Lazarev, V, Shebzukhova, M, Ustyuzhanin, D, Blagova, O, Alieva, I, Kulikova, V, Lutokhina, Y, Pavlenko, E, Varionchik, N, Ristic, A D, Seferovic, P M, Veljic, I, Zivkovic, I, Milinkovic, I, Pavlovic, A, Radovanovic, G, Simeunovic, D, Zdravkovic, M, Aleksic, M, Djokic, J, Hinic, S, Klasnja, S, Mircetic, K, Monserrat, L, Fernandez, X, Garcia-Giustiniani, D, Larrañaga, J M, Ortiz-Genga, M, Barriales-Villa, R, Martinez-Veira, C, Veira, E, Cequier, A, Salazar-Mendiguchia, J, Manito, N, Gonzalez, J, Fernández-Avilés, F, Medrano, C, Yotti, R, Cuenca, S, Espinosa, M A, Mendez, I, Zatarain, E, Alvarez, R, Pavia, P Garcia, Briceno, A, Cobo-Marcos, M, Dominguez, F, Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N, Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A, Gomez-Garcia, D, Robles-Mezcua, M, Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, Ripoll-Vera, T, Alvarez, J, Nunez, J, Gomez, Y, Fernandez, P L Sanchez, Villacorta, E, Avila, C, Bravo, L, Diaz-Pelaez, E, Gallego-Delgado, M, Garcia-Cuenllas, L, Plata, B, Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E, Arnau, M A, Sanz, J, Marques-Sule, E, Gale, Christopher Peter, Beleslin, Branko, Budaj, Andrzej, Chioncel, Ovidiu, Dagres, Nikolaos, Danchin, Nicolas, Erlinge, David, Emberson, Jonathan, Glikson, Michael, Gray, Alastair, Kayikcioglu, Meral, Maggioni, Aldo, Nagy, Klaudia Vivien, Nedoshivin, Aleksandr, Petronio, Anna-Sonia, Hesselink, Jolien Roo, Wallentin, Lars, Zeymer, Uwe, Caforio, Alida, Blanes, Juan Ramon Gimeno, Charron, Philippe, Elliott, Perry, Kaski, Juan Pablo, Maggioni, Aldo P, Tavazzi, Luigi, Tendera, Michal, Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J J, Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S K, Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Helio, T., Nieminen, M S, Dubourg, O., Mansencal, N., Arslan, M., Tsieu, V Siam, Damy, T., Guellich, A., Guendouz, S., Tissot, C M, Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Charron, P., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J-F, Bauer, A., Pfeiffer, B., Felix, S B, Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A-L, Beug, D., Bruder, M., Böhm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., McKeown, P., Muir, A., McOsker, J., Jardine, T., Divine, G., Elliott, P., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L A, Maleki, M., Bezanjani, F Noohi, Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Olivotto, I., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Bella, P Della, Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M G, Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M-A, Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Marra, M Perazzolo, Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L P, Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Calò, L., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Sinagra, G., Carriere, C., Merlo, M., Ramani, F., Kavoliūnienė, Aušra, Krivickienė, Aušra, Tamulevičiūtė-Prascienė, Eglė, Vieželis, Mindaugas, Balkevičienė, Laura, Laukytė, M., Palevičiūtė, Eglė, Pinto, Y., Wilde, A., Asselbergs, F W, Sammani, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J H, Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Tendera, M., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Lopes, L Rocha, Almeida, A R, Cruz, I., Gomes, A C, Pereira, A R, Brito, D., Madeira, H., Francisco, A R, Menezes, M., Moldovan, O., Guimaraes, T Oliveira, Silva, D., Ginghina, C., Jurcut, R., Mursa, A., Popescu, B A, Apetrei, E., Militaru, S., Coman, I Mircea, Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I A, Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A D, Seferovic, P M, Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Zdravkovic, M., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larrañaga, J M, Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernández-Avilés, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M A, Mendez, I., Zatarain, E., Alvarez, R., Pavia, P Garcia, Briceno, A., Cobo-Marcos, M., Dominguez, F., Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N., Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, de Mallorca, Palma, Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Fernandez, P L Sanchez, Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E., Arnau, M A, Sanz, J., Marques-Sule, E., Repositório da Universidade de Lisboa, Lopes, Lr, Losi, Ma, Sheikh, N, Laroche, C, Charron, P, Gimeno, J, Kaski, Jp, Maggioni, Ap, Tavazzi, L, Arbustini, E, Brito, D, Celutkiene, J, Hagege, A, Linhart, A, Mogensen, J, Garcia-Pinilla, Jm, Ripoll-Vera, T, Seggewiss, H, Villacorta, E, Caforio, A, and Elliott, Pm

Subjects
Genotype, Health Policy, Diabetes, Cardiovascular risk factors, Hypertension, Hypertrophic cardiomyopathy, Obesity, Cardiomyopathy, Hypertrophic, Ventricular Dysfunction, Left, diabete, Cardiovascular Diseases, Risk Factors, Heart Disease Risk Factors, cardiovascular risk factor, Humans, Female, 03.02. Klinikai orvostan, Cardiology and Cardiovascular Medicine, Cardiomyopathies, obesity
Abstract

© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited., Aims: The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry. Methods and results: 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI) and clinical traits was analyzed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene.The prevalence of HT, DM and obesity (Ob) was 37%, 10%, and 21%, respectively. HT, DM and Ob were associated with older age (p

Published
2022

4. Optical coherence tomography in coronary atherosclerosis assessment and intervention

Author

Araki, Makoto, Park, Seung-Jung, Dauerman, Harold L, Uemura, Shiro, Kim, Jung-Sun, Di Mario, Carlo, Johnson, Thomas W, Guagliumi, Giulio, Kastrati, Adnan, Joner, Michael, Holm, Niels Ramsing, Alfonso, Fernando, Wijns, William, Adriaenssens, Tom, Nef, Holger, Rioufol, Gilles, Amabile, Nicolas, Souteyrand, Geraud, Meneveau, Nicolas, Gerbaud, Edouard, Opolski, Maksymilian P, Gonzalo, Nieves, Tearney, Guillermo J, Bouma, Brett, Aguirre, Aaron D, Mintz, Gary S, Stone, Gregg W, Bourantas, Christos V, Räber, Lorenz, Gili, Sebastiano, Mizuno, Kyoichi, Kimura, Shigeki, Shinke, Toshiro, Hong, Myeong-Ki, Jang, Yangsoo, Cho, Jin Man, Yan, Bryan P, Porto, Italo, Niccoli, Giampaolo, Montone, Rocco A, Thondapu, Vikas, Papafaklis, Michail I, Michalis, Lampros K, Reynolds, Harmony, Saw, Jacqueline, Libby, Peter, Weisz, Giora, Iannaccone, Mario, Gori, Tommaso, Toutouzas, Konstantinos, Yonetsu, Taishi, Minami, Yoshiyasu, Takano, Masamichi, Raffel, O Christopher, Kurihara, Osamu, Soeda, Tsunenari, Sugiyama, Tomoyo, Kim, Hyung Oh, Lee, Tetsumin, Higuma, Takumi, Nakajima, Akihiro, Yamamoto, Erika, Bryniarski, Krzysztof L, Di Vito, Luca, Vergallo, Rocco, Fracassi, Francesco, Russo, Michele, Seegers, Lena M, McNulty, Iris, Park, Sangjoon, Feldman, Marc, Escaned, Javier, Prati, Francesco, Arbustini, Eloisa, Pinto, Fausto J, Waksman, Ron, Garcia-Garcia, Hector M, Maehara, Akiko, Ali, Ziad, Finn, Aloke V, Virmani, Renu, Kini, Annapoorna S, Daemen, Joost, Kume, Teruyoshi, Hibi, Kiyoshi, Tanaka, Atsushi, Akasaka, Takashi, Kubo, Takashi, Yasuda, Satoshi, Croce, Kevin, Granada, Juan F, Lerman, Amir, Prasad, Abhiram, Regar, Evelyn, Saito, Yoshihiko, Sankardas, Mullasari Ajit, Subban, Vijayakumar, Weissman, Neil J, Chen, Yundai, Yu, Bo, Nicholls, Stephen J, Barlis, Peter, West, Nick E J, Arbab-Zadeh, Armin, Ye, Jong Chul, Dijkstra, Jouke, Lee, Hang, Narula, Jagat, Crea, Filippo, Nakamura, Sunao, Kakuta, Tsunekazu, Fujimoto, James, Fuster, Valentin, and Jang, Ik-Kyung

Subjects
genetic structures, sense organs, 610 Medizin und Gesundheit, eye diseases
Abstract

Since optical coherence tomography (OCT) was first performed in humans two decades ago, this imaging modality has been widely adopted in research on coronary atherosclerosis and adopted clinically for the optimization of percutaneous coronary intervention. In the past 10 years, substantial advances have been made in the understanding of in vivo vascular biology using OCT. Identification by OCT of culprit plaque pathology could potentially lead to a major shift in the management of patients with acute coronary syndromes. Detection by OCT of healed coronary plaque has been important in our understanding of the mechanisms involved in plaque destabilization and healing with the rapid progression of atherosclerosis. Accurate detection by OCT of sequelae from percutaneous coronary interventions that might be missed by angiography could improve clinical outcomes. In addition, OCT has become an essential diagnostic modality for myocardial infarction with non-obstructive coronary arteries. Insight into neoatherosclerosis from OCT could improve our understanding of the mechanisms of very late stent thrombosis. The appropriate use of OCT depends on accurate interpretation and understanding of the clinical significance of OCT findings. In this Review, we summarize the state of the art in cardiac OCT and facilitate the uniform use of this modality in coronary atherosclerosis. Contributions have been made by clinicians and investigators worldwide with extensive experience in OCT, with the aim that this document will serve as a standard reference for future research and clinical application.

Published
2022
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5. Additional file 1 of Broncho-alveolar inflammation in COVID-19 patients: a correlation with clinical outcome

Author

Pandolfi, Laura, Fossali, Tommaso, Frangipane, Vanessa, Bozzini, Sara, Morosini, Monica, D’Amato, Maura, Lettieri, Sara, Urtis, Mario, Toro, Alessandro Di, Saracino, Laura, Percivalle, Elena, Tomaselli, Stefano, Cavagna, Lorenzo, Cova, Emanuela, Mojoli, Francesco, Bergomi, Paola, Ottolina, Davide, Lilleri, Daniele, Corsico, Angelo Guido, Arbustini, Eloisa, Colombo, Riccardo, and Meloni, Federica

Abstract

Additional file 1: Figure S1. Severely cytopathic cells in BAL sample of ICU patient. (a) Squared area is enlarged in (b) that shows isolated viral particles in the cytoplasms; (c) shows a similar severe cytopathic cell: the squared area is enlarged in (d) with isolated viral particles. (e) BAL cells immunoreacting with anti-spike antibodies were variably represented in BAL samples (10x), including (f) ciliated epithelia, 20x. Scale bar = 2 μm and 200 nm. Figure S2. (a-b) Electron micrograph showing a ciliated cytopathic cell with single viral particles (enlarged in b) and vesicles containing smaller viral particles (upper white arrow in b). Scale bar = 1 μm and 200 nm. Figure S3. The figure shows infected VERO E6 cells at (a) 48 and (b-f) 72 h from infection with SARS-CoV-2. (a) severely cytopathic cell (lower) in close contact with a non-cytopathic cell (upper). Scale bar = 2 μm. (b) Extensively damaged cell with multiple viral arrays. Scale bar = 1 μm. (c) Viral particles with variable morphology, with and without spikes in cytoplasmic vesicles (➔) and free in the cytoplasm (squared area). Scale bar = 200 nm. (d) the extensive immunostaining with anti-spike antibodies in infected VERO E6 cells, 20x. (e) Spiked viral particles in cytoplasmic vesicles. Scale bar = 200 nm. (f) Spiked viral particles free in the cytoplasm. Scale bar = 100 nm. Table S1. Correlation analysis of entire BAL collected between cell populations and cytokines. Table S2. Correlation analysis between cytokines quantified in BALs overall. Figure S4. IL6, 8 and 10 trends in two representative ICU patients. (a) survivor (treated with anti-viral + corticosteroids) and (b) non-survivor (treated only with tocilizumab). Figure S5. Correlation between IL6 quantified in plasma vs. IL6 quantified in BAL of the same patients sampled at the same day. r = Sparman coefficient; p = p value.

Published
2020
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7. Additional file 1: of European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Author

Laar, Ingrid, Arbustini, Eloisa, Loeys, Bart, Björck, Erik, Murphy, Lise, Groenink, Maarten, Kempers, Marlies, Timmermans, Janneke, Roos-Hesselink, Jolien, Kalman Benke, Pepe, Guglielmina, Mulder, Barbara, Zoltan Szabolcs, Teixidó-Turà, Gisela, Leema Robert, Yaso Emmanuel, Evangelista, Arturo, Pini, Alessandro, Yskert Kodolitsch, Jondeau, Guillaume, and Backer, Julie

Abstract

ACTA2 clinical features.

Published
2019
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8. Prognosis and Guideline-Adherent Antithrombotic Treatment in Patients With Atrial Fibrillation and Atrial Flutter

Author

Villard, Eric, Perret, Claire, Gary, Françoise, Proust, Carole, Dilanian, Gilles, Hengstenberg, Christian, Ruppert, Volker, Arbustini, Eloisa, Wichter, Thomas, Germain, Marine, Dubourg, Olivier, Tavazzi, Luigi, Aumont, Marie-Claude, Degroote, Pascal, Fauchier, Laurent, Trochu, Jean-Noël, Gibelin, Pierre, Aupetit, Jean-François, Stark, Klaus, Erdmann, Jeanette, Hetzer, Roland, Roberts, Angharad, Barton, Paul J.R., Regitz-Zagrosek, Vera, Aslam, Uzma, Duboscq-Bidot, Laëtitia, Meyborg, Matthias, Maisch, Bernhard, Madeira, Hugo, Waldenström, Anders, Galve, Enrique, Cleland, John, Dorent, Richard, Roizes, Gerard, Zeller, Tanja, Blankenberg, Stefan, Goodall, Alison, Cook, Stuart, Tregouet, David, Tiret, Laurence, Isnard, Richard, Komajda, Michel, Charron, Philippe, Cambien, François, Gorin, Laurent, Nonin, Emilie, Charbonnier, Bernard, Babuty, Dominique, Lip, Gregory Y.H., Génomique cardiovasculaire, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique, pharmacologie et physiopathologie des maladies cardiovasculaires [CHU Pitié-Salpétriêre], Institut National de la Santé et de la Recherche Médicale (INSERM)-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), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Klinik und Poliklinik für Innere Medizin II, Universität Regensburg (UR), Philipps Universität Marburg = Philipps University of Marburg, IRCCS - Pavia, Universität Osnabrück - Osnabrück University, Service de cardiologie et maladies vasculaires [CHU Ambroise Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], GVM Hospitals of Care and Research, Service de cardiologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Département de la Médecine, Université Paris Diderot - Paris 7 (UPD7), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Pasteur [Nice] (CHU), Hôpital Saint Joseph Saint Luc, Cardiovascular Sciences, Medizinische Klinik II, Universität zu Lübeck = University of Lübeck [Lübeck], University of Liverpool, and Aalborg University [Denmark] (AAU)

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Atrial fibrillation, Guideline, Critical Care and Intensive Care Medicine, Lower risk, medicine.disease, [SHS]Humanities and Social Sciences, Interquartile range, Internal medicine, Antithrombotic, medicine, Cardiology, cardiovascular diseases, Cardiology and Cardiovascular Medicine, business, Stroke, ComputingMilieux_MISCELLANEOUS, Atrial flutter, Fibrinolytic agent
Abstract

Background In patients with atrial fibrillation (AF), adherence to guidelines for antithrombotic treatment is poorly followed, and undertreatment (or nonadherence with guidelines) is associated with a worse prognosis. The study objective was to evaluate whether this was also the case in a large contemporary series of unselected patients with AF in real-world clinical practice. Methods All patients with AF or atrial flutter seen in our institution between 2000 and 2007 were identified in a database and followed up for mortality and stroke. Antithrombotic guideline adherence was assessed according to the 2006 American College of Cardiology/American Heart Association/European Society of Cardiology guidelines. Results We reviewed outcomes in 3,646 consecutive patients with AF or atrial flutter (aged 71 ± 14 years; mean CHADS 2 [congestive heart failure, hypertension, aged ≥ 75 years, diabetes mellitus, prior stroke or transient ischemic attack] score, 1.5 ± 1.1). Antithrombotic treatment was in agreement with the guidelines in 53% of patients, whereas 31% were classified as undertreated and 16% as overtreated. Among other parameters, nonpermanent AF and atrial flutter were independently associated with an increased risk of undertreatment. After a follow-up of 953 ± 767 days (median, 771 days; interquartile range, 1,286 days), guideline adherence was associated with a lower risk of adverse events (death from all causes or stroke) compared with undertreatment (relative risk, 0.47; 95% CI, 0.40-0.55; P P Conclusions Guideline nonadherence and undertreatment with antithrombotic agents in unselected real-world patients with AF or atrial flutter are independently associated with a high risk of stroke and mortality.

Published
2011

10. Gene symbol: CMD1J. Disease: SensoriNeural Hearing Loss (SNHL)

Author

A E, Arbustini Eloisa, M, Diegoli, M, Pasotti, M, Grasso, N, Marziliano, and G, De Donato

Subjects
Adult, Amino Acid Substitution, Hearing Loss, Sensorineural, Basic Helix-Loop-Helix Transcription Factors, Humans, Point Mutation, Female, Codon, Transcription Factors
Published
2005

11. Gene symbol: LMNA. Disease: EDMD2

Author

A E, Arbustini Eloisa, Andrea, Pilotto, Michele, Pasotti, Maurizia, Grasso, Marta, Diegoli, Stefano, Ghio, Marilena, Tagliani, and Luigi, Tavazzi

Subjects
Adult, Male, Humans, Female, Middle Aged, Codon, Lamin Type A, Lamins, Muscular Dystrophy, Emery-Dreifuss, Sequence Deletion
Published
2005

12. Gene symbol: CMD1J. Disease: Dilated cardiomyopathy

Author

A E, Arbustini Eloisa, M, Diegoli, M, Pasotti, M, Grasso, M, Marziliano, A, Delogu, and M, Carminati

Subjects
Adult, Cardiomyopathy, Dilated, Amino Acid Substitution, Basic Helix-Loop-Helix Transcription Factors, Humans, Point Mutation, Female, Child, Codon, Transcription Factors
Published
2005

13. Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1

Author

A E, Arbustini Eloisa, Andrea, Pilotto, Michele, Pasotti, Maurizia, Grasso, Marta, Diegoli, Carlo, Campana, Antonello, Gavazzi, Repetto, Alessandra, and Luigi, Tavazzi

Subjects
Adult, Cardiomyopathy, Dilated, Amino Acid Substitution, Humans, Point Mutation, Codon, Lamin Type A, Lamins
Published
2005

14. A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS

Author

Menotti, Francesca, Brega, Agnese, Diegoli, Marta, Grasso, Maurizia, Modena, Maria Grazia, and Arbustini, Eloisa

Subjects
Adult, Male, Genotype, Hypertrophic cardiomyopathy, MELAS, MtDNA, Cardiology and Cardiovascular Medicine, DNA Mutational Analysis, Cardiomyopathy, Hypertrophic, Polymerase Chain Reaction, Pedigree, Phenotype, RNA, Transfer, MELAS Syndrome, Humans, Point Mutation, Female
Abstract

Pathological mutations of mitochondrial (mt) DNA may cause specific diseases such as cardiomyopathies or hearing loss, or syndromes such as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome. We describe a novel mtDNA mutation in a patient with severe hypertrophic cardiomyopathy associated with MELAS. The familial phenotype included 1) hypertrophic cardiomyopathy and MELAS, 2) clinically mild cardiac hypertrophy, and 3) deafness.The proband and her first degree relatives underwent echo and electrocardiograms, and biochemical tests. Magnetic resonance imaging of the brain was performed in the proband. mtDNA was fully analyzed by sequencing. DNA purification, polymerase chain reaction and direct automated sequencing were performed following standard procedures. Heteroplasmy of the novel mutation was quantified by densitometric analysis.A novel G1644A transition affecting the tRNA(Val) was identified in the proband and maternal relatives. The mutation has been interpreted as pathological because the G at the 1644 position is a highly conserved base, is heteroplasmic with higher levels of mutant DNA in the proband than in the relatives, is located in the unique tRNA(Val), is very close to a mutation described as causative of MELAS, and finally has not been found in 100 healthy controls.Although it is rare for patients with MELAS to be referred to cardiological evaluation because of coexisting cardiomyopathy, cardiologists should be aware of this association as well as of the non cardiac signs that may address the diagnosis to mtDNA defect-related disease in families with a variable phenotype.

Published
2004

15. MHC-restricted alloreactivity and tolerance in heart transplantation

Author

Salvaneschi Laura, Ambroselli Franco, Poli Francesca, Arbustini Eloisa, Daielli Cristina, Gatti Cristina, and Martinetti Miryam

Subjects
Heart transplantation, biology, business.industry, medicine.medical_treatment, Immunology, medicine, biology.protein, Immunology and Allergy, General Medicine, Major histocompatibility complex, business
Published
1996

18. Feasibility and Prognostic Meaning of the Automated Detection of Lipid Core Burden Index at Optical Coherence Tomography: Post Hoc Analysis of the CLIMA Study

Author

Biccire, Flavio, Budassi, Simone, Isidori, Francesc, Lella, Eugenio, Marco, Valeria, Albertucci, Mario, Ozaki, Yukio, La Manna, Alessio, Romagnoli, Enrico, Bourantas, Christos, Paoletti, Giulia, Fabbiocchi, Franco, Gatto, Laura, Alessandro Sticchi, Burzotta, Francesco, Taglieri, Nevio, Calligaris, Giuseppe, Arbustini, Eloisa, Alfonso, Fernando, and Prati, Francesco

22. Clinical Phenotypes and Outcome of 101 LMNA Gene Mutation Carriers

Author

Pasotti, Michele, Serio, Alessandra, Pilotto, Andrea, Sarafini, Elena, Grasso, Maurizia, Marzillano, Nicola, Tagliani, Marilena, Cassini, Pamela, Digiorgio, Barbara, Agozzino, Manuela, Campana, Carlo, Gambarin, Fabiana, Stefano Ghio, Vigano, Mario, Tavazzi, Luigi, and Arbustini, Eloisa

24. Relationship Between the Amount and Location of Macrophages and Clinical Outcome: Subanalysis of the CLIMA Study

Author

Budassi, Simone, Biccire, Flavio, Gatto, Laura, Alfonso, Fernando, Paoletti, Giulia, Burzotta, Francesco, La Manna, Alessio, Fineschi, Massimo, Marco, Valeria, Fabbiocchi, Franco, Vergallo, Rocco, Boi, Alberto, Ruscica, Giovanni, Versaci, Francesco, Taglieri, Nevio, Calligaris, Giuseppe, Albertucci, Mario, Enrico Romagnoli, Ramazzptto, Vito, Tamburino, Corrado, Crea, Filippo, Ozaki, Yukio, Arbustini, Eloisa, and Prati, Francesco

26. Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics

Author

Claudio Rapezzi, Eloisa Arbustini, Manuela Agozzino, Maurizio Melis, Filippo Mangione, Annarita Colucci, Alexandra Smirnova, Riccardo Borroni, Elena Biagini, M Molinaro, Jagat Narula, Maurizia Rasura, Valentina Favalli, Alessandra Serio, Nupoor Narula, Antonello Ganau, Daniela Concolino, Maria Teresa Di Mascio, Antonia Nucera, GianPietro Sechi, Clelia Caspani, Camilla Vassallo, Carlo Pellegrini, Eliana Disabella, Umberto Scoditti, Marilena Tagliani, Calogero Giordano, Pamela Cassini, Massimiliano Marini, Carmela Giorgianni, Elena Antoniazzi, Anna Scarabotto, Donata Guidetti, Takahide Kodama, Marina Diomedi, Michelangelo Mancuso, Danilo Toni, Marialuisa Zedde, Luigi Tavazzi, Maurizia Grasso, Laura Scelsi, Lorenzo Giuliani, Laura Fancellu, Stefania Piga, Monica Concardi, Stefano Ghio, Favalli, Valentina, Disabella, Eliana, Molinaro, Mariadelfina, Tagliani, Marilena, Scarabotto, Anna, Serio, Alessandra, Grasso, Maurizia, Narula, Nupoor, Giorgianni, Carmela, Caspani, Clelia, Concardi, Monica, Agozzino, Manuela, Giordano, Calogero, Smirnova, Alexandra, Kodama, Takahide, Giuliani, Lorenzo, Antoniazzi, Elena, Borroni, Riccardo G, Vassallo, Camilla, Mangione, Filippo, Scelsi, Laura, Ghio, Stefano, Pellegrini, Carlo, Zedde, Marialuisa, Fancellu, Laura, Sechi, Gianpietro, Ganau, Antonello, Piga, Stefania, Colucci, Annarita, Concolino, Daniela, Di Mascio, Maria Teresa, Toni, Danilo, Diomedi, Marina, Rapezzi, Claudio, Biagini, Elena, Marini, MASSIMILIANO LUIGI IVO, Rasura, Maurizia, Melis, Maurizio, Nucera, Antonia, Guidetti, Donata, Mancuso, Michelangelo, Scoditti, Umberto, Cassini, Pamela, Narula, Jagat, Tavazzi, Luigi, and Arbustini, Eloisa

Subjects
Adult, Male, Proband, GLA, MOGE(S) classification, biochemical, family screening, multidisciplinary evaluation, α-Gal, Pediatrics, medicine.medical_specialty, Pathology, Adolescent, Disease, 030204 cardiovascular system & hematology, NO, 03 medical and health sciences, 0302 clinical medicine, medicine, Lysosomal storage disease, Humans, Genetic Testing, Prospective Studies, Child, Prospective cohort study, Genetic testing, Alpha-galactosidase, biology, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Fabry disease, Hospitals, 3. Good health, Anderson-Fabry Disease, Settore MED/03 - Genetica Medica, alpha-Galactosidase, Mutation, biology.protein, Fabry Disease, Medicine, Female, Settore MED/26 - Neurologia, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery
Abstract

Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%. OBJECTIVES: This study sought to expand screening from these settings to include ophthalmology, dermatology, gastroenterology, internal medicine, pediatrics, and medical genetics to increase diagnostic yield and comprehensively evaluate organ involvement in AFD patients. METHODS: In a 10-year prospective multidisciplinary, multicenter study, we expanded clinical, genetic, and biochemical screening to consecutive patients enrolled from all aforementioned clinical settings. We tested the GLA gene and α-galactosidase A activity in plasma and leukocytes. Inclusion criteria comprised phenotypical traits and absence of male-to-male transmission. Screening was extended to relatives of probands harboring GLA mutations. RESULTS: Of 2,034 probands fulfilling inclusion criteria, 37 (1.8%) were carriers of GLA mutations. Cascade family screening identified 60 affected relatives; clinical data were available for 4 affected obligate carriers. Activity of α-galactosidase A in plasma and leukocytes was diagnostic in male subjects, but not in female subjects. Of the 101 family members harboring mutations, 86 were affected, 10 were young healthy carriers, and 5 refused clinical evaluation. In the 86 patients, involved organs or organ systems included the heart (69%), peripheral nerves (46%), kidney (45%), eye (37%), brain (34%), skin (32%), gastrointestinal tract (31%), and auditory system (19%). Globotriaosylceramide accumulated in organ-specific and non-organ-specific cells in atypical and classic variants, respectively. CONCLUSIONS: Screening probands with clinically suspected AFD significantly increased diagnostic yield. The heart was the organ most commonly involved, independent of the clinical setting in which the patient was first evaluated. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Published
2016

27. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

Author

Hui Jiang, Francesca Romana Di Raimo, Subreena Simrick, Giorgio Tasca, Jianguo Zhang, Fabiana Fattori, C. Scotton, Claudio Rapezzi, Thomas Brand, Bruno Dallapiccola, Rita Selvatici, Niels Decher, Alexander Froese, Viacheslav O. Nikolaev, Antonello Pietrangelo, Roland F.R. Schindler, Jun Wang, Fabrizio Drago, Enrico Bertini, Susanne Rinné, Marcella Neri, Alessandra Ferlini, Thorsten Schwerte, Kar Lai Poon, Thomas Müller, Christiane Grunert, Wenyan Li, Eloisa Arbustini, Mingyan Fang, Xun Xu, Chiara Passarelli, Beatriz Ortiz-Bonnin, Padmini Sarathchandra, Francesca Gualandi, Schindler, Roland F. R., Scotton, Chiara, Zhang, Jianguo, Passarelli, Chiara, Ortiz-Bonnin, Beatriz, Simrick, Subreena, Schwerte, Thorsten, Poon, Kar-Lai, Fang, Mingyan, Rinné, Susanne, Froese, Alexander, Nikolaev, Viacheslav O., Grunert, Christiane, Müller, Thoma, Tasca, Giorgio, Sarathchandra, Padmini, Drago, Fabrizio, Dallapiccola, Bruno, Rapezzi, Claudio, Arbustini, Eloisa, Romana Di Raimo, Francesca, Neri, Marcella, Selvatici, Rita, Gualandi, Francesca, Fattori, Fabiana, Pietrangelo, Antonello, Li, Wenyan, Jiang, Hui, Xu, Xun, Bertini, Enrico, Decher, Niel, Wang, Jun, Brand, Thoma, Ferlini, Alessandra, Medical Research Council (MRC), British Heart Foundation, and The Magdi Yacoub Institute

Subjects
0301 basic medicine, Male, Pathology, Muscle Proteins, Research & Experimental Medicine, DOMAIN-CONTAINING PROTEINS, domain containing proteins, Membrane Potentials, Cyclic AMP, Missense mutation, Muscular dystrophy, Child, Zebrafish, Membrane Protein, Cardiac muscle cell, Aged, 80 and over, biology, Medicine (all), Aged, Animals, Arrhythmias, Cardiac, Humans, Membrane Proteins, Middle Aged, Muscular Dystrophies, Limb-Girdle, Mutation, Potassium Channels, Tandem Pore Domain, Protein Transport, STRESS-MEDIATED MODULATION, General Medicine, 11 Medical And Health Sciences, medicine.anatomical_structure, Medicine, Research & Experimental, SKELETAL-MUSCLE, HEART, POTASSIUM CHANNEL, muscular dystrophy, arrhythmia, ITGA7, Life Sciences & Biomedicine, Human, Research Article, medicine.medical_specialty, HL-1 CELLS, Immunology, cardiac pacemakin, Membrane Potential, NO, HL1 cell, 03 medical and health sciences, Internal medicine, medicine, KINASE, Allele, skeletal muscle, Science & Technology, COMPLEX, Animal, Cardiac arrhythmia, Skeletal muscle, stress mediated modulation, domain containing proteins, skeletal muscle, cardiac pacemakin, potassium channel, HL1 cell, zebrafish, heart, kinase, biology.organism_classification, medicine.disease, 030104 developmental biology, Endocrinology, stress mediated modulation, CARDIAC PACEMAKING, Cell Adhesion Molecules
Abstract

The Popeye domain-containing 1 (POPDC1) gene encodes a plasma membrane-localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 is an essential regulator of structure and function of cardiac and skeletal muscle; however, POPDC1 mutations have not been associated with human cardiac and muscular diseases. Here, we have described a homozygous missense variant (c.602C>T, p.S201F) in POPDC1, identified by whole-exome sequencing, in a family of 4 with cardiac arrhythmia and limb-girdle muscular dystrophy (LGMD). This allele was absent in known databases and segregated with the pathological phenotype in this family. We did not find the allele in a further screen of 104 patients with a similar phenotype, suggesting this mutation to be family specific. Compared with WT protein, POPDC1(S201F) displayed a 50% reduction in cAMP affinity, and in skeletal muscle from patients, both POPDC1(S201F) and WT POPDC2 displayed impaired membrane trafficking. Forced expression of POPDC1(S201F) in a murine cardiac muscle cell line (HL-1) increased hyperpolarization and upstroke velocity of the action potential. In zebrafish, expression of the homologous mutation (popdc1(S191F)) caused heart and skeletal muscle phenotypes that resembled those observed in patients. Our study therefore identifies POPDC1 as a disease gene causing a very rare autosomal recessive cardiac arrhythmia and LGMD, expanding the genetic causes of this heterogeneous group of inherited rare diseases. peerReviewed

Published
2014

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