Hypertrophic cardiomyopathy in identical twins: a case report with mismatch between genotype and phenotype.

ABSTRACT:

Background

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy; however, it is a very rare condition among twins. A mismatch between the phenotype and clinical course has been identified, even in the presence of apparently identical genotypes.

Case summary

A pair of male monozygotic-diamniotic twins of 17 years old with a mismatch in HCM clinical expression is informed. Both twins have the same pathogenic variant [c.1816G>A (p.Val606Met)] located in MYH7, a gene that encodes an essential component in the contraction of cardiac muscle. The twins presented obstructive basal anteroseptal vs. non-obstructive medium apical HCM and different clinical courses (non-fatal sudden cardiac death vs. asymptomatic). It is hypothesized that twin-to-twin trans

SUBMITTER: Marquez-Murillo MF 

PROVIDER: S-EPMC12690468 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature