Affiliation:
1. Department of Cardiology, Research Group for Genetic Cardiac Diseases and Sudden Cardiac Death, Oslo University Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway
2. Department of Cardiology, Institute for Clinical Medicine, University of Oslo, Oslo, Norway
3. Oslo Centre of Biostatistics and Epidemiology, Oslo University Hospital, Oslo, Norway
Abstract
Abstract
Aims
We aimed to study the progression of cardiac dysfunction in patients with lamin A/C mutations and explore markers of adverse cardiac outcome.
Methods and results
We followed consecutive lamin A/C genotype-positive patients divided into tertiles according to age. Patients underwent repeated clinical examinations, electrocardiograms (ECGs), and echocardiograms. We followed left ventricular (LV) and right ventricular (RV) size and function, and the severity atrioventricular-valve regurgitations. Outcome was death, LVAD implant, or cardiac transplantation. We included 101 patients [age 44 (29–54) years, 39% probands, 50% female]. We analysed 576 echocardiograms and 258 ECGs during a follow-up of 4.9 (interquartile range 2.5–8.2) years. The PR-interval increased at young age from 204 ± 73 to 212 ± 69 ms (P < 0.001), LV ejection fraction (LVEF) declined from middle age from 50 ± 12% to 47 ± 13% (P < 0.001), while LV volumes remained unchanged. RV function and tricuspid regurgitation worsened from middle age with accelerating rates. Progression of RV dysfunction [odds ratio (OR) 1.3, 95% confidence interval (CI) (1.03–1.65), P = 0.03] and tricuspid regurgitation [OR 4.9, 95% CI (1.64–14.9), P = 0.004] were associated with outcome when adjusted for age, sex, comorbidities, LVEF, and New York Heart Association functional class.
Conclusion
In patients with lamin A/C genotype, electrical disease started at young age. From middle age, LV function deteriorated progressively, while LV size remained unchanged. Worsening of RV function and tricuspid regurgitation accelerated in older age and were associated with outcome. Our systematic map on cardiac deterioration may help optimal monitoring and prognostication in lamin A/C disease.
Funder
Norwegian Research Council
Publisher
Oxford University Press (OUP)
Subject
Cardiology and Cardiovascular Medicine,Radiology, Nuclear Medicine and imaging,General Medicine
Cited by
7 articles.
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