Cohort study reveals spliceogenic MYBPC3 variants in hypertrophic cardiomyopathy, highlighting the potential of genetic re-analysis to improve inconclusive diagnostic testing.
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, it yields inconclusive or negative results in 40-60% of HCM cases, owing to, among other causes, technical limitations such as the inability to detect pathogenic intronic variants. Therefore, we aimed to increase the diagnostic yield of molecular analysis for HCM by improving the
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Caroselli et al. (2024) studied this question.
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