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
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
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
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, Research & Experimental
Yan Liang, Robert C. Lyon, Jason Pellman, William H. Bradford, Stephan Lange, Julius Bogomolovas, Nancy D. Dalton, Yusu Gu, Marcus Bobar, Mong-Hong Lee, Tomoo Iwakuma, Vishal Nigam, Angeliki Asimaki, Melvin Scheinman, Kirk L. Peterson, Farah Sheikh
Summary: A recently discovered COP9 desmosomal resident protein complex, consisting of subunit 6 of the COP9 signalosome (CSN6), was found to enzymatically restrict neddylation and target desmosomal proteome degradation, ultimately playing a crucial role in preventing diseases such as ARVD/C.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
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
Medicine, Research & Experimental
Jie Ren, Konstantinos Tsilafakis, Liang Chen, Konstantinos Lekkos, Ioanna Kostavasili, Aimilia Varela, Dennis Cokkinos, Constantinos H. Davos, Xiaogang Sun, Jiangping Song, Manolis Mavroidis
Summary: The study found activation of the complement system in the myocardium of ARVC patients, with autoantibodies against myocardial proteins possibly contributing to this mechanism. Crosstalk between the complement and coagulation systems exacerbated myocardial injury in ARVC mice, which was reduced by using the thrombin inhibitor lepirudin. Patients showed significantly elevated plasma levels of sC5b9 and thrombin, which were correlated with all-cause mortality.
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
Sara Hosseini, Ladina Erhart, Shehab Anwer, Pascal S. Heiniger, Neria E. Winkler, Tolga Cimen, Nazar Kuzo, Refael Hess, Deniz Akdis, Sarah Costa, Alessio Gasperetti, Corinna Brunckhorst, Firat Duru, Ardan M. Saguner, Felix C. Tanner
Summary: The study shows that tissue Doppler imaging (TDI) provides information on the ARVC phenotype, is associated with adverse events in ARVC patients, and can differentiate between patients with and without adverse events.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Genetics & Heredity
Alex Horby Christensen, Pyotr G. Platonov, Henrik Kjaerulf Jensen, Monica Chivulescu, Anneli Svensson, Pia Dahlberg, Trine Madsen, Tanja Charlotte Frederiksen, Tiina Helio, Oyvind Haugen Lie, Kristina H. Haugaa, Jesper Hastrup Svendsen, Henning Bundgaard
Summary: ARVC is predominantly caused by desmosomal genetic variants. PKP2 genotype is more arrhythmic than DSC2/DSG2/DSP or gene-negative patients, while reduced LVEF is mainly seen in DSC2/DSG2/DSP carriers. Male sex is associated with a more severe phenotype.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Medicine, General & Internal
Chin-Yu Lin, Fa-Po Chung, Nwe Nwe, Yu-Cheng Hsieh, Cheng-Hung Li, Yenn-Jiang Lin, Shih-Lin Chang, Li-Wei Lo, Yu-Feng Hu, Ta-Chuan Tuan, Tze-Fan Chao, Jo-Nan Liao, Ting-Yung Chang, Ling Kuo, Cheng- Wu, Chih-Min Liu, Shin-Huei Liu, Wen-Han Cheng, Shih-Ann Chen
Summary: This study investigates the effect of amiodarone on ablation outcomes in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) undergoing catheter ablation for drug-refractory ventricular tachycardia (VT). The results showed that patients on amiodarone before ablation had worse outcomes than patients off amiodarone, especially those who had used amiodarone continuously.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Hao-Yu Wu, Yi-Wei Cao, Tian-Jiao Gao, Jian-Li Fu, Lei Liang
Summary: Arrhythmogenic right ventricular cardiomyopathy is a rare and potentially fatal condition that can lead to sudden cardiac death. Early diagnosis and treatment are crucial. A patient with recurrent syncope during exercise was successfully treated with combined endocardial and epicardial catheter ablation.
WORLD JOURNAL OF CLINICAL CASES
(2021)
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
Julia Cadrin-Tourigny, Laurens P. Bosman, Weijia Wang, Rafik Tadros, Aditya Bhonsale, Mimount Bourfiss, 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, 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: A simple prediction model using only 4 clinical predictors can predict LTVA events in patients with ARVC. Prior sustained VA and the extent of functional heart disease are not associated with subsequent LTVA events.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Richard T. Carrick, Anneline S. J. M. te Riele, Alessio Gasperetti, Laurens Bosman, Steven A. Muller, Catherine Pendleton, Crystal Tichnell, Brittney Murray, Sing-Chien Yap, Maarten P. van den Berg, Arthur Wilde, Katja Zeppenfeld, Allison Hays, Stefan L. Zimmerman, Harikrishna Tandri, Julia Cadrin-Tourigny, Peter van Tintelen, Hugh Calkins, Cynthia A. James, Katherine C. Wu
Summary: Risk factors for VA in ARVC are dynamic and overall risk for incident sustained VA decreases during follow-up. Up-to-date risk factor assessment improves VA risk stratification.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY
(2022)
