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Oxford University Press (OUP), European Heart Journal, p. ehv387

DOI: 10.1093/eurheartj/ehv387

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Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Journal article published in 2015 by Anneline S. J. M. Te Riele, Cynthia A. James ORCID, Judith A. Groeneweg, Abhishek C. Sawant, Kai Kammers, Brittney Murray, Jeroen F. van der Heijden, Crystal Tichnell, Daniel P. Judge ORCID, J. Peter van Tintelen, Daniel P., Dennis Dooijes, Richard N. W. Hauer, Hugh Calkins, Harikrishna Tandri
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AIMS: A combination of variable expression, age-related penetrance, and unpredictable arrhythmic events complicates management of relatives of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients. We aimed to (i) determine predictors of ARVD/C diagnosis and (ii) optimize arrhythmic risk stratification among first-degree relatives of ARVD/C patients. METHODS AND RESULTS: Detailed phenotypic and outcome data of 274 first-degree relatives (46% male; 36.5 ± 18.9 years) of 138 ARVD/C probands were obtained. Ninety-six (35%) relatives were diagnosed with ARVD/C according to 2010 Task Force Criteria (TFC). Siblings had a three-fold-increased risk of ARVD/C diagnosis compared with parents and children (odds ratio 3.11, P