Key result
Successful verification of hypertrophic cardiomyopathy using genetic tests is achieved in only 60% of clinically confirmed cases, highlighting the need to search for new predictor genes.
Why the study?
Successful genetic verification of HCM occurs in only 60% of cases, necessitating a search for new predictor genes.
This review emphasizes the genetic heterogeneity of hypertrophic cardiomyopathy and the need to discover novel predictor genes to improve the current 60% diagnostic yield of genetic testing.
Genetic testing incompletely confirms HCM; leaves open discovery of novel predictor genes to raise diagnostic yield.
Hypertrophic cardiomyopathy (HCM) is a diagnosis established in each case of left ventricular hypertrophy of unknown origin when the left ventricular wall is greater than or equal to 15 mm in one or more myocardial segments according to imaging data. The hereditary nature of HCM is no longer in doubt. But successful verification of HCM using genetic tests is 60% of cases. This fact makes it possible to believe that a search for new predictor genes for HCM is necessary. The review presents current literature data on mutations in genes associated with hypertrophic cardiomyopathy.
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Yus'kiv et al. (2024) conducted a review in Hypertrophic cardiomyopathy. Genetic mutations was evaluated. Successful verification of hypertrophic cardiomyopathy using genetic tests is achieved in only 60% of clinically confirmed cases, highlighting the need to search for new predictor genes.
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