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Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow

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...

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Autores principales: Chumakova, Olga S., Baulina, Natalia M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425241/
https://www.ncbi.nlm.nih.gov/pubmed/37583586
http://dx.doi.org/10.3389/fcvm.2023.1236539
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author Chumakova, Olga S.
Baulina, Natalia M.
author_facet Chumakova, Olga S.
Baulina, Natalia M.
author_sort Chumakova, Olga S.
collection PubMed
description 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.
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spelling pubmed-104252412023-08-15 Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow Chumakova, Olga S. Baulina, Natalia M. Front Cardiovasc Med Cardiovascular Medicine 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. Frontiers Media S.A. 2023-07-31 /pmc/articles/PMC10425241/ /pubmed/37583586 http://dx.doi.org/10.3389/fcvm.2023.1236539 Text en © 2023 Chumakova and Baulina. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Chumakova, Olga S.
Baulina, Natalia M.
Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow
title Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow
title_full Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow
title_fullStr Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow
title_full_unstemmed Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow
title_short Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow
title_sort advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425241/
https://www.ncbi.nlm.nih.gov/pubmed/37583586
http://dx.doi.org/10.3389/fcvm.2023.1236539
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