Article
Cardiac & Cardiovascular Systems
Thomas Rolland, Nicolas Badenco, Carole Maupain, Guillaume Duthoit, Xavier Waintraub, Mikael Laredo, Caroline Himbert, Robert Frank, Francoise Hidden-Lucet, Estelle Gandjbakhch
Summary: The combination of flecainide and beta-blockers is complementary in treating ventricular arrhythmias (VA) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC), and it is safe and effective in reducing the burden of premature ventricular contractions and preventing sustained VA.
Article
Cardiac & Cardiovascular Systems
Shehab Anwer, Francesca Guastafierro, Ladina Erhart, Sarah Costa, Deniz Akdis, Manuel Schuermann, Sara Hosseini, Neria E. Winkler, Nazar Kuzo, Alessio Gasperetti, Corinna Brunckhorst, Firat Duru, Ardan M. Saguner, Felix C. Tanner
Summary: This study examines right atrial (RA) deformation in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and its association with cardiovascular (CV) outcomes. The results show that ARVC patients exhibit impaired RA strain, and reservoir and pump strain are associated with an increased risk of CV events.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2022)
Article
Cardiac & Cardiovascular Systems
Paloma Jorda, Laurens P. Bosman, Alessio Gasperetti, Andrea Mazzanti, Jean-Baptiste Gourraud, Brianna Davies, Tanja Charlotte Frederiksen, Zoraida Moreno Weidmann, Andrea Di Marco, Jason D. Roberts, Ciorsti MacIntyre, Colette Seifer, Antoine Deliniere, Wael Alqarawi, Deni Kukavica, Damien Minois, Alessandro Trancuccio, Marine Arnaud, Mattia Targetti, Annamaria Martino, Giada Oliviero, Daniel C. Pipilas, Corrado Carbucicchio, Paolo Compagnucci, Antonio Dello Russo, Iacopo Olivotto, Leonardo Calo, Steven A. Lubitz, Michael J. Cutler, Philippe Chevalier, Elena Arbelo, Silvia Giuliana Priori, Jeffrey S. Healey, Hugh Calkins, Michela Casella, Henrik Kjaerulf Jensen, Claudio Tondo, Rafik Tadros, Cynthia A. James, Andrew D. Krahn, Julia Cadrin-Tourigny
Summary: This study validated a 5-year risk prediction model for ARVC patients, demonstrating its superior performance in guiding ICD implantation decisions compared to other published guidelines and consensus statements. The findings support the use of this model for shared decision making in the primary prevention of SCD in ARVC patients.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Bernard Belhassen, Mikael Laredo, Rob W. Roudijk, Giovanni Peretto, Guy Zahavi, Srijita Sen-Chowdhry, Nicolas Badenco, Anneline S. J. M. Te Riele, Simone Sala, Guillaume Duthoit, J. Peter van Tintelen, Gabriele Paglino, Jean-Marc Sellal, Alessio Gasperetti, Elena Arbelo, Antoine Andorin, Sandro Ninni, Anne Rollin, Petr Peichl, Xavier Waintraub, Laurens P. Bosman, Bertrand Pierre, Eyal Nof, Chris Miles, Jacob Tfelt-Hansen, Alexandros Protonotarios, Carla Giustetto, Frederic Sacher, Jean-Sylvain Hermida, Stepan Havranek, Leonardo Calo, Ruben Casado-Arroyo, Giulio Conte, Konstantinos P. Letsas, Esther Zorio, Francisco J. Bermudez-Jimenez, Elijah R. Behr, Roy Beinart, Laurent Fauchier, Josef Kautzner, Philippe Maury, Dominique Lacroix, Vincent Probst, Josep Brugada, Firat Duru, Christian de Chillou, Paolo Della Bella, Estelle Gandjbakhch, Richard Hauer, Anat Milman
Summary: The study found that RBBB-VT accounts for a significant proportion of sustained VTs in ACM patients. Sex and type of pathogenic mutations are associated with VT type, with female sex associated with LBBB + RBBB-VT and DSP mutation associated with RBBB-VT.
Article
Cardiac & Cardiovascular Systems
A. M. Saguner, D. Lunk, M. Mohsen, Sven Knecht, Deniz Akdis, S. Costa, A. Gasperetti, F. Duru, V. A. Rossi, C. B. Brunckhorst
Summary: This study investigated the use of contact-force sensing catheters (CFSC) in endocardial electroanatomical mapping (EAM) to diagnose arrhythmogenic right ventricular cardiomyopathy (ARVC). The results showed that ARVC patients had lower RV voltage amplitudes compared to controls, particularly in the subtricuspid region and RV apex. EAM using CFSC was found to be a promising tool for diagnosing ARVC.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2023)
Review
Cardiac & Cardiovascular Systems
Sayed Al-Aidarous, Alexandros Protonotarios, Perry M. Elliott, Pier D. Lambiase
Summary: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by myocardial fibrofatty replacement due to specific mutations, resulting in ventricular arrhythmias and sudden cardiac death. Treating this condition is challenging due to fibrosis progression, phenotypic variations, and limited clinical trials. While beta-blockers are theoretically effective, their efficacy in reducing arrhythmic risk is not strong. Emerging evidence suggests that combining flecainide and bisoprolol may be effective. Radiofrequency ablation and stereotactic radiotherapy show potential in disrupting ventricular circuits and modifying myocardial fibrosis. Future therapies, such as adenoviruses and GSk3b modulation, are still in early-stage research. Implantable cardioverter-defibrillator implantation reduces arrhythmic death but comes with risks.
Article
Genetics & Heredity
Jia Chen, Yuting Ma, Hong Li, Zhuo Lin, Zhe Yang, Qin Zhang, Feng Wang, Yanping Lin, Zebing Ye, Yubi Lin
Summary: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a condition associated with ventricular arrhythmia, heart failure, and sudden death. Thromboembolism is also a serious complication of ARVC/D. This study identified a Chinese Han family with ARVC/D and characterized their genetic mutations. The LMNA and LAMA4 gene variants were found to be potentially pathogenic and associated with the manifestation of ARVC/D and related symptoms.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Cardiac & Cardiovascular Systems
Julia Cadrin-Tourigny, Laurens P. Bosman, Anna Nozza, Weijia Wang, Rafik Tadros, Aditya Bhonsale, Mimount Bourfiss, Annik Fortier, Oyvind H. Lie, Ardan M. Saguner, Anneli Svensson, Antoine Andorin, Crystal Tichnell, Brittney Murray, Katja Zeppenfeld, Maarten P. van den Berg, Folkert W. Asselbergs, Arthur A. M. Wilde, Andrew D. Krahn, Mario Talajic, Lena Rivard, Stephen Chelko, Stefan L. Zimmerman, Ihab R. Kamel, Jane E. Crosson, Daniel P. Judge, Sing-Chien Yap, Jeroen F. van der Heijden, Harikrishna Tandri, Jan D. H. Jongbloed, Marie-Claude Guertin, J. Peter van Tintelen, Pyotr G. Platonov, Firat Duru, Kristina H. Haugaa, Paul Khairy, Richard N. W. Hauer, Hugh Calkins, Anneline S. J. M. te Riele, Cynthia A. James
Summary: We developed a prediction model for incident VA/SCD in ARVC patients using readily available clinical parameters, which accurately distinguished patients with and without events and showed superior clinical benefit compared to current ICD placement algorithms.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Tarek Zghaib, Anneline S. J. M. Te Riele, Cynthia A. James, Neda Rastegar, Brittney Murray, Crystal Tichnell, Marc K. Halushka, David A. Bluemke, Harikrishna Tandri, Hugh Calkins, Ihab R. Kamel, Stefan Loy Zimmerman
Summary: Among patients with ARVD/C according to the 2010 Task Force Criteria, CMR evidence for LV abnormalities are seen in half of patients, typically manifesting as fibrofatty infiltration in the subepicardium, and are not associated with arrhythmic outcomes.
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
(2021)
Article
Cardiac & Cardiovascular Systems
Hubert Delasnerie, Estelle Gandjbakhch, Romain Sauve, Maxime Beneyto, Guillaume Domain, Quentin Voglimacci-Stephanopoli, Franck Mandel, Nicolas Badenco, Xavier Waintraub, Pierre Mondoly, Veronique Fressart, Anne Rollin, Philippe Maury
Summary: This study investigated the correlation between endocardial voltage mapping and the genetic background of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). The presence of scar areas on voltage mapping was significantly associated with ARVC diagnosis and the presence of a pathogenic variant. 3-dimensional endocardial mapping may have an important role in refining ARVC diagnosis and detecting minor forms with insufficient criteria for diagnosis.
AMERICAN JOURNAL OF CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Marit Kristine Smedsrud, Monica Chivulescu, Marianne Inngjerdingen Forsa, Isotta Castrini, Eivind Westrum Aabel, Christine Rootwelt-Norberg, Martin Proven Bogsrud, Thor Edvardsen, Nina Eide Hasselberg, Andreas Fruh, Kristina Hermann Haugaa
Summary: The study aimed to investigate the incidence of severe cardiac events in paediatric arrhythmogenic right ventricular cardiomyopathy (ARVC) patients and the ARVC penetrance in paediatric relatives. The results showed a high incidence of severe cardiac events in paediatric ARVC cohort, with half occurring in children aged 12 or below. Additionally, the ARVC penetrance in genotype positive paediatric relatives was 18%.
EUROPEAN HEART JOURNAL
(2022)
Article
Emergency Medicine
Leen Alblaihed, Christine Kositz, William J. Brady, Tareq Al -Salamah, Amal Mattu
Summary: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder of the myocardium that can cause ventricular arrhythmia and sudden cardiac death. Early recognition of the disease by emergency clinicians is crucial to prevent subsequent death, as it is a significant cause of arrhythmic death among young people and athletes. This publication reviews the pathophysiology, classification, clinical presentations, and appropriate approach to diagnosis and management of ARVC.
AMERICAN JOURNAL OF EMERGENCY MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Alex Horby Christensen, Pyotr G. Platonov, Anneli Svensson, Henrik K. Jensen, Christine Rootwelt-Norberg, Pia Dahlberg, Trine Madsen, Tanja Charlotte Frederiksen, Tiina Helio, Kristina H. Haugaa, Henning Bundgaard, Jesper H. Svendsen
Summary: This study describes the complications associated with implantable cardioverter-defibrillators (ICD) treatment in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). The results show that during long-term follow-up, approximately 41% of patients experienced potentially life-saving ICD therapy, while 27% had complications requiring surgery, mainly lead-related complications.
Article
Medicine, General & Internal
Nadine Molitor, Firat Duru
Summary: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease characterized by fibro-fatty replacement of the right ventricle, which can lead to ventricular tachyarrhythmias and sudden cardiac death. Diagnosis is challenging due to its variable expressivity, incomplete penetrance, and lack of specific diagnostic criteria. Other cardiac diseases may mimic the clinical phenotypes of ARVC, leading to misdiagnosis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Ishan Lakhani, Jiandong Zhou, Sharen Lee, Ka Hou Christien Li, Keith Sai Kit Leung, Jeremy Man Ho Hui, Yan Hiu Athena Lee, Guoliang Li, Tong Liu, Wing Tak Wong, Ian Chi Kei Wong, Ngai Shing Mok, Chloe Miu Mak, Qingpeng Zhang, Gary Tse
Summary: Clinical and electrocardiographic parameters are important for assessing prognosis in ARVC/D patients and can aid risk stratification in the hospital setting.
REVIEWS IN CARDIOVASCULAR MEDICINE
(2022)
