Why the study?
What is the frequency and spectrum of mutations in MYH7, MYBPC3, TNNI3, and TNNT2 genes in Central European patients with hypertrophic cardiomyopathy?
Population
100 patients with hypertrophic cardiomyopathy (HCM) from a Central European population
Design
Cross-sectional
Key result
Complete sequencing of sarcomere genes in hypertrophic cardiomyopathy patients identified mutations in 40%, most commonly in MYBPC3 (54.5%) and MYH7 (31.8%).
Authors
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Supports comprehensive sarcomere sequencing in Central European HCM; leaves open clinical utility and generalizability pending prospective validation.
Observational (n=100)
What is the frequency and spectrum of mutations in MYH7, MYBPC3, TNNI3, and TNNT2 genes in Central European patients with hypertrophic cardiomyopathy?
In a Central European HCM cohort, MYBPC3 was the most commonly mutated gene, and the high phenotypic heterogeneity and novel mutations suggest targeted pre-screening tests are ineffective.
Čurila et al. (2012) conducted an observational in Hypertrophic cardiomyopathy (n=100). Complete sequencing of MYH7, MYBPC3, TNNI3 and TNNT2 genes was evaluated on Presence of mutations in MYH7, MYBPC3, TNNI3 and TNNT2 genes. Complete sequencing of sarcomere genes in hypertrophic cardiomyopathy patients identified mutations in 40%, most commonly in MYBPC3 (54.5%) and MYH7 (31.8%).