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Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy

Int J Cardiol, Vol. 411, Article Number: 132273, 2024

PMID: 38880420

Catalogs of pathogenic mutations in hypertrophic cardiomyopathy (HCM) are limited for the South Asian population despite their higher heart disease risk. This study sequenced 200 HCM patients, finding a 40% yield for pathogenic or likely pathogenic (P/LP) variants, primarily in MYBPC3 and MYH7 genes. Key predictors of positive genetic tests included younger age at diagnosis, family history, specific echocardiographic patterns, and absence of hypertension. MYBPC3 variants were linked to severe outcomes like ventricular tachycardia, while MYH7 variants were associated with specific cardiac dimensions. The study underscores the enrichment of rare P/LP variants and variants of uncertain significance (VUSs) in HCM cases, enhancing targeted genetic testing for this population.

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