Molecular genetic characteristics of patients with hypertrophic cardiomyopathy: a review
https://doi.org/10.15829/1560-4071-2024-5885
Abstract
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.
About the Authors
Yu. A. Yus'kiv
Voyno-Yasenetsky Krasnoyarsk State Medical University
Russian Federation
Russian Federation
Krasnoyarsk
A. A. Chernova
Voyno-Yasenetsky Krasnoyarsk State Medical University; Federal Siberian Research Clinical Center
Russian Federation
Russian Federation
Krasnoyarsk
S. Yu. Nikulina
Voyno-Yasenetsky Krasnoyarsk State Medical University
Russian Federation
Russian Federation
Krasnoyarsk
D. B. Drobot
Voyno-Yasenetsky Krasnoyarsk State Medical University; Federal Center for Cardiovascular Surgery
Russian Federation
Russian Federation
Krasnoyarsk
V. A. Sakovich
Voyno-Yasenetsky Krasnoyarsk State Medical University; Federal Center for Cardiovascular Surgery
Russian Federation
Russian Federation
Krasnoyarsk
O. O. Kardashova
Federal Siberian Research Clinical Center
Russian Federation
Russian Federation
Krasnoyarsk
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Supplementary files
What is already known about the subject?
- Genomic medicine provides an opportunity to identify the molecular mechanisms underlying diseases, to identify latent variants of diseases.
What might this study add?
- The article discusses issues related to molecular genetic predictors of hypertrophic cardiomyopathy (HCM). It is possible to verify this diagnosis by molecular genetic methods only in 60% of cases of clinically and paraclinically confirmed HCM. This fact rationales the search for new HCM predictor genes.
How might this impact on clinical practice?
- Studying new HCM predictor genes will allow identifying groups of patients at high risk of unfavorable course of the disease long before clinical manifestation, which will allow timely diagnosis and application of the latest HCM treatment options.
Review
For citations:
Yus'kiv Yu.A., Chernova A.A., Nikulina S.Yu., Drobot D.B., Sakovich V.A., Kardashova O.O. Molecular genetic characteristics of patients with hypertrophic cardiomyopathy: a review. Russian Journal of Cardiology. 2024;29(11S):5885. (In Russ.) https://doi.org/10.15829/1560-4071-2024-5885
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