Key result
Monozygotic twins with a homozygous MYL3 mutation exhibit identical myocardial hypertrophy but differing clinical symptoms.
Why the study?
Rare inheritance patterns and genetic forms of hypertrophic cardiomyopathy are relatively poorly understood regarding their natural history.
Case Report (n=6)
This case report highlights the clinical polymorphism of hypertrophic cardiomyopathy even in monozygotic twins sharing the exact same genetic defect (homozygous MYL3 p.Ala57Asp mutation).
Answers are grounded in this paper and cite their sources.
Variable expressivity in MYL3-HCM warrants individualized assessment; leaves open modifier roles in monozygotic twins.
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Zaklyazminskaya et al. (2022) conducted a case report in Hypertrophic cardiomyopathy (n=6). Homozygous p.Ala57Asp mutation in the MYL3 gene vs. Heterozygous carriers and non-carriers was evaluated. Monozygotic twins with a homozygous p.Ala57Asp mutation in the MYL3 gene exhibited identical diffuse-generalized myocardial hypertrophy but differed significantly in clinical symptoms.
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