Natural History of MYH7-Related Dilated Cardiomyopathy
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
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-zdroje
- Klíčová slova
- MYH7, dilated cardiomyopathy, genetics,
- MeSH
- dilatační kardiomyopatie * genetika MeSH
- dospělí MeSH
- fenotyp MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- remodelace komor genetika MeSH
- srdeční arytmie komplikace epidemiologie genetika MeSH
- srdeční myosiny genetika MeSH
- srdeční selhání * komplikace genetika MeSH
- těžké řetězce myosinu * genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- MYH7 protein, human MeSH Prohlížeč
- srdeční myosiny MeSH
- těžké řetězce myosinu * 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
Citace poskytuje Crossref.org
Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy
