Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow

Frontiers in Cardiovascular Medicine

Cardiovascular Medicine

Olga S. Chumakova¹  Natalia M. Baulina² 

[1] Correspondence:;Laboratory of Functional Genomics of Cardiovascular Diseases, National Medical Research Centre of Cardiology Named After E.I. Chazov, Moscow, Russia;

关键词: hypertrophic cardiomyopathy;    genetics;    diagnosis;    missing heritability;    NGS;    HCM-associated variants;    polygenic risk score;    miRNA;   

DOI  :  10.3389/fcvm.2023.1236539

 received in 2023-06-07, accepted in 2023-07-17,  发布年份 2023

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

Unknown   
© 2023 Chumakova and Baulina.