We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Long-term outcomes and left ventricular diastolic function of sarcomere mutation-positive and mutation-negative patients with hypertrophic cardiomyopathy: a prospective cohort study.
- Authors
Chen, Ching-Yu Julius; Su, Mao-Yuan Marine; Liao, Ying-Chieh; Chang, Fu-Lan; Wu, Cho-Kai; Lin, Lian-Yu; Chen, Yih-Shurng; Lin, Yen-Hung; Hwang, Juey-Jen; Yu, Sung-Liang; Kao, Hsien-Li; Chen, Wen-Jone; Lu, Tzu-Pin; Shih, Ching-Yu; Yeh, Shih-Fan Sherri; Yang, Dun-Hui; Lai, Ling-Ping; Juang, Jyh-Ming Jimmy
- Abstract
Aims Hypertrophic cardiomyopathy (HCM) is an inheritable disease that leads to sudden cardiac death and heart failure (HF). Sarcomere mutations (SMs) have been associated with HF. However, the differences in ventricular function between SM-positive and SM-negative HCM patients are poorly characterized. Methods and results Of the prospectively enrolled 374 unrelated HCM patients in Taiwan, 115 patients underwent both 91 cardiomyopathy-related gene screening and cardiovascular magnetic resonance (45.6 ± 10.6 years old, 76.5% were male). Forty pathogenic/likely pathogenic mutations were identified in 52 patients by next-generation sequencing. The SM-positive group were younger at first cardiovascular event (P = 0.04) and progression to diastolic HF (P = 0.02) with higher N-terminal pro-brain natriuretic peptide (NT-proBNP) [New York Heart Association (NYHA) Class III/IV symptoms with left ventricular ejection fraction > 55%] than the SM-negative group (P < 0.001). SM-positive patients had a greater extent of late gadolinium enhancement (P = 0.01), larger left atrial diameter (P = 0.03), higher normalized peak filling rate (PFR) and PFR ratio, and a greater reduction in global longitudinal strain than SM-negative patients (all P ≤ 0.01). During mean lifelong follow-up time (49.2 ± 15.6 years), SM-positive was a predictor of earlier HF (NYHA Class III/IV symptoms) after multivariate adjustment (hazard ratio 3.5; 95% confidence interval 1.3–9.7; P = 0.015). Conclusion SM-positive HCM patients had a higher extent of myocardial fibrosis and more severe ventricular diastolic dysfunction than those without, which may contribute to earlier onset of advanced HF, suggesting the importance of close surveillance and early treatment throughout life.
- Subjects
TAIWAN; LEFT heart ventricle; GENETIC mutation; SEQUENCE analysis; VENTRICULAR ejection fraction; CONFIDENCE intervals; CARDIAC hypertrophy; GENETIC testing; MAGNETIC resonance imaging; DESCRIPTIVE statistics; HEART physiology; DIASTOLE (Cardiac cycle); PEPTIDE hormones; LONGITUDINAL method; LEFT heart atrium; PROPORTIONAL hazards models
- Publication
European Heart Journal - Cardiovascular Imaging, 2021, Vol 22, Issue 12, p1397
- ISSN
2047-2404
- Publication type
Article
- DOI
10.1093/ehjci/jeaa317