Natural History of MYH7-Related Dilated Cardiomyopathy
Language English Country United States Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
Grant support
FS/CRTF/20/24022
British Heart Foundation - United Kingdom
MR/T005181/1
Medical Research Council - United Kingdom
PubMed
36007715
DOI
10.1016/j.jacc.2022.07.023
PII: S0735-1097(22)05713-8
Knihovny.cz E-resources
- Keywords
- MYH7, dilated cardiomyopathy, genetics,
- MeSH
- Cardiomyopathy, Dilated * genetics MeSH
- Adult MeSH
- Phenotype MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Ventricular Remodeling genetics MeSH
- Arrhythmias, Cardiac complications epidemiology genetics MeSH
- Cardiac Myosins genetics MeSH
- Heart Failure * complications genetics MeSH
- Myosin Heavy Chains * genetics MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- MYH7 protein, human MeSH Browser
- Cardiac Myosins MeSH
- Myosin Heavy Chains * MeSH
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.
Cardiology Department Hospital Universitario Marqués de Valdecilla Santander Cantabria Spain
Cardiology Unit Meyer University Hospital Florence Florence Italy
Complejo Hospitalario Universitario de Badajoz Badajoz Spain
Department of Cardiology Aarhus University Hospital Aarhus Denmark
Department of Cardiology Hospital Universitario Basurto Bilbao Spain
Department of Cardiology Institute for Clinical and Experimental Medicine Prague Czech Republic
Department of Cardiology Odense University Hospital Odense Denmark
Department of Clinical Genetics Maastricht University Medical Center Maastricht the Netherlands
Department of Pediatrics Aarhus University Hospital Aarhus Denmark
Hospital Universitario Son Llatzer IdISBa Palma de Mallorca Spain
References provided by Crossref.org
Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
