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 proband was a 17-year-old male diagnosed with hypertrophic obstructive cardiomyopathy (HOCM) due to post-exercise syncope, which resolved after septal septectomy. Family lineage analysis revealed that the mother (RCM, NYHA class III) and uncle (RCM, NYHA class IV) of the proband presented with bi-atrial enlargement and reduced systolic function (LVEF 45%), whereas aunts and cousins (n = 3) had asymptomatic hypertrophic non-obstructive cardiomyopathy (HNCM). Whole exome sequencing identified six family member

SUBMITTER: Han Y 

PROVIDER: S-EPMC12265364 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature