The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report

Abstract This study reports on a Chinese Han cardiomyopathy family line carrying the MYH7 c.2770G > A (p.Glu924Lys) mutation. This mutation has been shown to result in cross-generational phenotypic heterogeneity between hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM). The p...

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Bibliographic Details
Main Authors: Yuanyuan Han, Haiyang Wang, Hongsheng Zhang, Manman Wang, Lijun Gan, Fanhua Meng
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Cardiovascular Disorders
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Online Access:https://doi.org/10.1186/s12872-025-04943-x
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