Format

Send to

Choose Destination
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.

Author information

1
Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, PO Box 1171 Blindern, 0318 Oslo, Norway.
2
Department of Cardiology, Center for Cardiological Innovation, Oslo University Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.
3
Institute for Cardiovascular Diseases C.C. Iliescu, 258, Fundeni street, District 2, 022322 Bucharest Romania.
4
Carol Davila University of Medicine and Pharmacy, 37, Dionisie Lupu street, District 2, 020021 Bucharest, Romania.

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 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).

CONCLUSION:

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.

KEYWORDS:

Arrhythmic risk; Arrhythmogenic cardiomyopathy; Penetrance; Structural progression

PMID:
31504415
DOI:
10.1093/eurheartj/ehz570

Supplemental Content

Full text links

Icon for Silverchair Information Systems Icon for Norwegian BIBSYS system
Loading ...
Support Center