TY - JOUR
T1 - Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members
AU - Groeneweg, Judith A.
AU - Bhonsale, Aditya
AU - James, Cynthia A.
AU - te Riele, Anneline S.
AU - Dooijes, Dennis
AU - Tichnell, Crystal
AU - Murray, Brittney
AU - Wiesfeld, Ans C. P.
AU - Sawant, Abhishek C.
AU - Kassamali, Bina
AU - Atsma, Douwe E.
AU - Volders, Paul G.
AU - de Groot, Natasja M.
AU - de Boer, Karin
AU - Zimmerman, Stefan L.
AU - Kamel, Ihab R.
AU - van der Heijden, Jeroen F.
AU - Russell, Stuart D.
AU - Cramer, Maarten Jan
AU - Tedford, Ryan J.
AU - Doevendans, Pieter A.
AU - van Veen, Toon A.
AU - Tandri, Harikrishna
AU - Wilde, Arthur A.
AU - Judge, Daniel P.
AU - van Tintelen, J. Peter
AU - Hauer, Richard N.
AU - Calkins, Hugh
PY - 2015/6
Y1 - 2015/6
N2 - Background Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a progressive cardiomyopathy. We aimed to define long-term outcome in a transatlantic cohort of 1001 individuals. Methods and Results Clinical and genetic characteristics and follow-up data of ARVD/C index-patients (n=439, fulfilling of 2010 criteria in all) and family members (n=562) were assessed. Mutations were identified in 276 index-patients (63%). Index-patients presented predominantly with sustained ventricular arrhythmias (268; 61%). During a median follow-up of 7 years, 301 of the 416 index-patients presenting alive (72%) experienced sustained ventricular arrhythmias. Sudden cardiac death during follow-up occurred more frequently among index-patients without an implantable cardioverter-defibrillator (10/63, 16% versus 2/335, 0.6%). Overall, cardiac mortality and the need for cardiac transplantation were low (6% and 4%, respectively). Clinical characteristics and outcomes were similar in index-patients with and without mutations, as well as in those with familial and nonfamilial ARVD/C. ARVD/C was diagnosed in 207 family members (37%). Symptoms at first evaluation correlated with disease expression. Family members with mutations were more likely to meet Task Force Criteria for ARVD/C (40% versus 18%), experience sustained ventricular arrhythmias (11% versus 1%), and die from a cardiac cause (2% versus 0%) than family members without mutations. Conclusions Long-term outcome was favorable in diagnosed and treated ARVD/C index-patients and family members. Outcome in index-patients was modulated by implantable cardioverter-defibrillator implantation, but not by mutation status and familial background of disease. One third of family members developed ARVD/C. Outcome in family members was determined by symptoms at first evaluation and mutations.
AB - Background Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a progressive cardiomyopathy. We aimed to define long-term outcome in a transatlantic cohort of 1001 individuals. Methods and Results Clinical and genetic characteristics and follow-up data of ARVD/C index-patients (n=439, fulfilling of 2010 criteria in all) and family members (n=562) were assessed. Mutations were identified in 276 index-patients (63%). Index-patients presented predominantly with sustained ventricular arrhythmias (268; 61%). During a median follow-up of 7 years, 301 of the 416 index-patients presenting alive (72%) experienced sustained ventricular arrhythmias. Sudden cardiac death during follow-up occurred more frequently among index-patients without an implantable cardioverter-defibrillator (10/63, 16% versus 2/335, 0.6%). Overall, cardiac mortality and the need for cardiac transplantation were low (6% and 4%, respectively). Clinical characteristics and outcomes were similar in index-patients with and without mutations, as well as in those with familial and nonfamilial ARVD/C. ARVD/C was diagnosed in 207 family members (37%). Symptoms at first evaluation correlated with disease expression. Family members with mutations were more likely to meet Task Force Criteria for ARVD/C (40% versus 18%), experience sustained ventricular arrhythmias (11% versus 1%), and die from a cardiac cause (2% versus 0%) than family members without mutations. Conclusions Long-term outcome was favorable in diagnosed and treated ARVD/C index-patients and family members. Outcome in index-patients was modulated by implantable cardioverter-defibrillator implantation, but not by mutation status and familial background of disease. One third of family members developed ARVD/C. Outcome in family members was determined by symptoms at first evaluation and mutations.
KW - arrhythmias
KW - cardiac
KW - arrhythmogenic right ventricular dysplasia-cardiomyopathy
KW - arrhythmogenic right ventricular dysplasia
KW - cardiomyopathies
KW - genetics
U2 - 10.1161/CIRCGENETICS.114.001003
DO - 10.1161/CIRCGENETICS.114.001003
M3 - Article
C2 - 25820315
SN - 1942-3268
VL - 8
SP - 437
EP - 446
JO - Circulation : Cardiovascular Genetics
JF - Circulation : Cardiovascular Genetics
IS - 3
ER -