Details

Autor(en) / Beteiligte

• Groeneweg, Judith A
• Bhonsale, Aditya
• James, Cynthia A
• te Riele, Anneline S
• Dooijes, Dennis
• Tichnell, Crystal
• Murray, Brittney
• Wiesfeld, Ans C P
• Sawant, Abhishek C
• Kassamali, Bina
• Atsma, Douwe E
• Volders, Paul G
• de Groot, Natasja M
• de Boer, Karin
• Zimmerman, Stefan L
• Kamel, Ihab R
• van der Heijden, Jeroen F
• Russell, Stuart D
• Jan Cramer, Maarten
• Tedford, Ryan J
• Doevendans, Pieter A
• van Veen, Toon A
• Tandri, Harikrishna
• Wilde, Arthur A
• Judge, Daniel P
• van Tintelen, J Peter
• Hauer, Richard N
• Calkins, Hugh

Titel

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members

Ist Teil von

• Circulation. Cardiovascular genetics, 2015-06, Vol.8 (3), p.437

Ort / Verlag

United States

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• 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. 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. 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.