End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series.
MYH7 variant
advanced heart failure
hypertrophic cardiomyopathy
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
01 Nov 2023
01 Nov 2023
Historique:
medline:
3
11
2023
pubmed:
23
3
2023
entrez:
22
3
2023
Statut:
ppublish
Résumé
The MYH7 R453 variant has been identified in inherited hypertrophic cardiomyopathy (HCM) and is associated with sudden death and a poor prognosis. The detailed clinical course of HCM with the MYH7 R453 variant, from a preserved to a reduced left ventricular ejection fraction, has not been reported. We identified the MYH7 R453C and R453H variants in three patients who progressively developed advanced heart failure requiring circulatory support and summarized the clinical course and echocardiographic parameters of these patients over the years. Because of the rapid disease progression, we consider genetic screening for patients with HCM imperative for future prognosis stratification.
Identifiants
pubmed: 36948619
doi: 10.2169/internalmedicine.1497-22
pmc: PMC10686745
doi:
Substances chimiques
MYH7 protein, human
0
Myosin Heavy Chains
EC 3.6.4.1
Cardiac Myosins
EC 3.6.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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