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

ABSTRACT:

Aims

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.

Methods and results

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 mem

SUBMITTER: Chivulescu M 

PROVIDER: S-EPMC7138527 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature