Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.
| Autor: | Chumakova OS; Laboratory of Functional Genomics of Cardiovascular Diseases, National Medical Research Centre of Cardiology Named After E.I. Chazov, Moscow, Russia., Baulina NM; Laboratory of Functional Genomics of Cardiovascular Diseases, National Medical Research Centre of Cardiology Named After E.I. Chazov, Moscow, Russia. |
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| Jazyk: | angličtina |
| Zdroj: | Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2023 Jul 31; Vol. 10, pp. 1236539. Date of Electronic Publication: 2023 Jul 31 (Print Publication: 2023). |
| DOI: | 10.3389/fcvm.2023.1236539 |
| Abstrakt: | Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease associated with morbidity and mortality at any age. As studies in recent decades have shown, the genetic architecture of HCM is quite complex both in the entire population and in each patient. In the rapidly advancing era of gene therapy, we have to provide a detailed molecular diagnosis to our patients to give them the chance for better and more personalized treatment. In addition to emphasizing the importance of genetic testing in routine practice, this review aims to discuss the possibility to go a step further and create an expanded genetic panel that contains not only variants in core genes but also new candidate genes, including those located in deep intron regions, as well as structural variations. It also highlights the benefits of calculating polygenic risk scores based on a combination of rare and common genetic variants for each patient and of using non-genetic HCM markers, such as microRNAs that can enhance stratification of risk for HCM in unselected populations alongside rare genetic variants and clinical factors. While this review is focusing on HCM, the discussed issues are relevant to other cardiomyopathies. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (© 2023 Chumakova and Baulina.) |
| Databáze: | MEDLINE |
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