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Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment

Hypertrophic cardiomyopathy (HCM) is a very common inherited cardiovascular disease (CAD) and the incidence is about 1/500 of the common population. It is caused by more than 1,400 mutations in 11 or more genes encoding the proteins of the cardiac sarcomere. HCM presents a heterogeneous clinical pro...

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Autores principales: Cheng, Zeyi, Fang, Tingting, Huang, Jinglei, Guo, Yingqiang, Alam, Mahboob, Qian, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8572854/
https://www.ncbi.nlm.nih.gov/pubmed/34760939
http://dx.doi.org/10.3389/fcvm.2021.722340
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author Cheng, Zeyi
Fang, Tingting
Huang, Jinglei
Guo, Yingqiang
Alam, Mahboob
Qian, Hong
author_facet Cheng, Zeyi
Fang, Tingting
Huang, Jinglei
Guo, Yingqiang
Alam, Mahboob
Qian, Hong
author_sort Cheng, Zeyi
collection PubMed
description Hypertrophic cardiomyopathy (HCM) is a very common inherited cardiovascular disease (CAD) and the incidence is about 1/500 of the common population. It is caused by more than 1,400 mutations in 11 or more genes encoding the proteins of the cardiac sarcomere. HCM presents a heterogeneous clinical profile and complex pathophysiology and HCM is the most important cause of sudden cardiac death (SCD) in young people. HCM also contributes to functional disability from heart failure and stroke (caused by atrial fibrillation). Current treatments for HCM (medication, myectomy, and alcohol septal ablation) are geared toward slowing down the disease progression and symptom relief and implanted cardiac defibrillator (ICD) to prevent SCD. HCM is, however, entering a period of tight translational research that holds promise for the major advances in disease-specific therapy. Main insights into the genetic landscape of HCM have improved our understanding of molecular pathogenesis and pointed the potential targets for the development of therapeutic agents. We reviewed the critical discoveries about the treatments, mechanism of HCM, and their implications for future research.
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spelling pubmed-85728542021-11-09 Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment Cheng, Zeyi Fang, Tingting Huang, Jinglei Guo, Yingqiang Alam, Mahboob Qian, Hong Front Cardiovasc Med Cardiovascular Medicine Hypertrophic cardiomyopathy (HCM) is a very common inherited cardiovascular disease (CAD) and the incidence is about 1/500 of the common population. It is caused by more than 1,400 mutations in 11 or more genes encoding the proteins of the cardiac sarcomere. HCM presents a heterogeneous clinical profile and complex pathophysiology and HCM is the most important cause of sudden cardiac death (SCD) in young people. HCM also contributes to functional disability from heart failure and stroke (caused by atrial fibrillation). Current treatments for HCM (medication, myectomy, and alcohol septal ablation) are geared toward slowing down the disease progression and symptom relief and implanted cardiac defibrillator (ICD) to prevent SCD. HCM is, however, entering a period of tight translational research that holds promise for the major advances in disease-specific therapy. Main insights into the genetic landscape of HCM have improved our understanding of molecular pathogenesis and pointed the potential targets for the development of therapeutic agents. We reviewed the critical discoveries about the treatments, mechanism of HCM, and their implications for future research. Frontiers Media S.A. 2021-10-25 /pmc/articles/PMC8572854/ /pubmed/34760939 http://dx.doi.org/10.3389/fcvm.2021.722340 Text en Copyright © 2021 Cheng, Fang, Huang, Guo, Alam and Qian. 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). 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
Cheng, Zeyi
Fang, Tingting
Huang, Jinglei
Guo, Yingqiang
Alam, Mahboob
Qian, Hong
Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
title Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
title_full Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
title_fullStr Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
title_full_unstemmed Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
title_short Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
title_sort hypertrophic cardiomyopathy: from phenotype and pathogenesis to treatment
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8572854/
https://www.ncbi.nlm.nih.gov/pubmed/34760939
http://dx.doi.org/10.3389/fcvm.2021.722340
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