期刊
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
卷 80, 期 15, 页码 1447-1461出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacc.2022.07.023
关键词
dilated cardiomyopathy; genetics; MYH7
资金
- Instituto de Salud Carlos III (ISCIII) (European Regional Development Fund/European Social Fund A way to make Europe/ Investing in your future) [PI18/0004, PI20/0320, PT17/0015/0043]
- ISCIII
- MCIN
- Pro-CNIC Foundation
- Severo Ochoa Centers of Excellence program [CEX2020-001041-S]
- ISCIII [CM20/00101]
- ERA-CVD framework, NCBiR
- Dutch Heart Foundation [Dekker 2015T041]
- Victor Chang Cardiac Research Institute
- NSW Health
- MRC UK Clinical Academic Research Partnership award [MR/T005181/1]
- Deutsches Zentrum fur Herz-Kreislauf-Forschung (German Center for Cardiovascular Research)
- Informatics for Life (Klaus Tschira Foundation)
- Ministry of Health, Czech Republic [NV19-08-00122]
- IPO (Institute for Clinical and Experimental Medicine-IKEM) [IN 00023001]
- [CVON2020B005]
MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to end-stage heart failure (ESHF). Heart failure complications predominate over ventricular arrhythmias, which are rare.
BACKGROUND Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 +/- 19.2 years) recruited from 29 international centers. RESULTS At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% +/- 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of <= 35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation.
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