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Eur Heart J. 2019 Sep 1. pii: ehz570. doi: 10.1093/eurheartj/ehz570. [Epub ahead of print]

High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy.

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Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, PO Box 1171 Blindern, 0318 Oslo, Norway.
Department of Cardiology, Center for Cardiological Innovation, Oslo University Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.
Institute for Cardiovascular Diseases C.C. Iliescu, 258, Fundeni street, District 2, 022322 Bucharest Romania.
Carol Davila University of Medicine and Pharmacy, 37, Dionisie Lupu street, District 2, 020021 Bucharest, Romania.



We aimed to assess structural progression in arrhythmogenic cardiomyopathy (AC) patients and mutation-positive family members and its impact on arrhythmic outcome in a longitudinal cohort study.


Structural progression was defined as the development of new Task Force imaging criteria from inclusion to follow-up and progression rates as annual changes in imaging parameters. We included 144 AC patients and family members (48% female, 47% probands, 40 ± 16 years old). At genetic diagnosis and inclusion, 58% of family members had penetrant AC disease. During 7.0 [inter-quartile range (IQR) 4.5-9.4] years of follow-up, 47% of family members without AC at inclusion developed AC criteria, resulting in a yearly new AC penetrance of 8%. Probands and family members had a similar progression rate of right ventricular outflow tract diameter (0.5 mm/year vs. 0.6 mm/year, P = 0.28) by mixed model analysis of 598 echocardiographic examinations. Right ventricular fractional area change progression rate was even higher in family members (-0.6%/year vs. -0.8%/year, P < 0.01). Among 86 patients without overt structural disease or arrhythmic history at inclusion, a first severe ventricular arrhythmic event occurred in 8 (9%), of which 7 (88%) had concomitant structural progression. Structural progression was associated with higher incidence of severe ventricular arrhythmic events adjusted for age, sex, and proband status (HR 21.24, 95% CI 2.47-182.81, P < 0.01).


More than half of family members had AC criteria at genetic diagnosis and yearly AC penetrance was 8%. Structural progression was similar in probands and family members and was associated with higher incidence of severe ventricular arrhythmic events.


Arrhythmic risk; Arrhythmogenic cardiomyopathy; Penetrance; Structural progression


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