Hypertrophic Cardiomyopathy: Genes and Mechanisms

Hypertrophic cardiomyopathy (HCM) is a hereditary disease of the myocardium characterized by asymmetric hypertrophy (mainly the left ventricle) not caused by pressure or volume load. Most cases of HCM are caused by genetic mutations, particularly in the gene encoding cardiac myosin, such as MYH7, TN...

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Main Authors: Jinli Chen, Yang Xing, Jie Sun, Yongming Liu, Zekun Lang, Lei Zhang, Jinggang Yang
Format: Article
Language:English
Published: IMR Press 2025-02-01
Series:Frontiers in Bioscience-Landmark
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Online Access:https://www.imrpress.com/journal/FBL/30/2/10.31083/FBL25714
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author Jinli Chen
Yang Xing
Jie Sun
Yongming Liu
Zekun Lang
Lei Zhang
Jinggang Yang
author_facet Jinli Chen
Yang Xing
Jie Sun
Yongming Liu
Zekun Lang
Lei Zhang
Jinggang Yang
author_sort Jinli Chen
collection DOAJ
description Hypertrophic cardiomyopathy (HCM) is a hereditary disease of the myocardium characterized by asymmetric hypertrophy (mainly the left ventricle) not caused by pressure or volume load. Most cases of HCM are caused by genetic mutations, particularly in the gene encoding cardiac myosin, such as MYH7, TNNT2, and MYBPC3. These mutations are usually inherited autosomal dominantly. Approximately 30–60% of HCM patients have a family history of similar cases among their immediate relatives. This underscores the significance of genetic factors in the development of HCM. Therefore, we summarized the gene mutation mechanisms associated with the onset of HCM and potential treatment directions. We aim to improve patient outcomes by increasing doctors’ awareness of genetic counseling, early diagnosis, and identification of asymptomatic patients. Additionally, we offer valuable insights for future research directions, as well as for early diagnosis and intervention.
format Article
id doaj-art-80d04a7335eb4af2af35754add4ae0ca
institution DOAJ
issn 2768-6701
language English
publishDate 2025-02-01
publisher IMR Press
record_format Article
series Frontiers in Bioscience-Landmark
spelling doaj-art-80d04a7335eb4af2af35754add4ae0ca2025-08-20T03:04:43ZengIMR PressFrontiers in Bioscience-Landmark2768-67012025-02-013022571410.31083/FBL25714S2768-6701(24)01496-5Hypertrophic Cardiomyopathy: Genes and MechanismsJinli Chen0Yang Xing1Jie Sun2Yongming Liu3Zekun Lang4Lei Zhang5Jinggang Yang6Department of Geriatric Medicine, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaDepartment of Anesthesia and Surgery, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaDepartment of Geriatric Medicine, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaDepartment of Geriatric Medicine, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaThe First Clinical Medical College of Lanzhou University, 730000 Lanzhou, Gansu, ChinaThe First Clinical Medical College of Lanzhou University, 730000 Lanzhou, Gansu, ChinaDepartment of Geriatric Medicine, First Hospital of Lanzhou University, 730000 Lanzhou, Gansu, ChinaHypertrophic cardiomyopathy (HCM) is a hereditary disease of the myocardium characterized by asymmetric hypertrophy (mainly the left ventricle) not caused by pressure or volume load. Most cases of HCM are caused by genetic mutations, particularly in the gene encoding cardiac myosin, such as MYH7, TNNT2, and MYBPC3. These mutations are usually inherited autosomal dominantly. Approximately 30–60% of HCM patients have a family history of similar cases among their immediate relatives. This underscores the significance of genetic factors in the development of HCM. Therefore, we summarized the gene mutation mechanisms associated with the onset of HCM and potential treatment directions. We aim to improve patient outcomes by increasing doctors’ awareness of genetic counseling, early diagnosis, and identification of asymptomatic patients. Additionally, we offer valuable insights for future research directions, as well as for early diagnosis and intervention.https://www.imrpress.com/journal/FBL/30/2/10.31083/FBL25714cardiomyopathyhypertrophic cardiomyopathyhereditygenetic mutations
spellingShingle Jinli Chen
Yang Xing
Jie Sun
Yongming Liu
Zekun Lang
Lei Zhang
Jinggang Yang
Hypertrophic Cardiomyopathy: Genes and Mechanisms
Frontiers in Bioscience-Landmark
cardiomyopathy
hypertrophic cardiomyopathy
heredity
genetic mutations
title Hypertrophic Cardiomyopathy: Genes and Mechanisms
title_full Hypertrophic Cardiomyopathy: Genes and Mechanisms
title_fullStr Hypertrophic Cardiomyopathy: Genes and Mechanisms
title_full_unstemmed Hypertrophic Cardiomyopathy: Genes and Mechanisms
title_short Hypertrophic Cardiomyopathy: Genes and Mechanisms
title_sort hypertrophic cardiomyopathy genes and mechanisms
topic cardiomyopathy
hypertrophic cardiomyopathy
heredity
genetic mutations
url https://www.imrpress.com/journal/FBL/30/2/10.31083/FBL25714
work_keys_str_mv AT jinlichen hypertrophiccardiomyopathygenesandmechanisms
AT yangxing hypertrophiccardiomyopathygenesandmechanisms
AT jiesun hypertrophiccardiomyopathygenesandmechanisms
AT yongmingliu hypertrophiccardiomyopathygenesandmechanisms
AT zekunlang hypertrophiccardiomyopathygenesandmechanisms
AT leizhang hypertrophiccardiomyopathygenesandmechanisms
AT jinggangyang hypertrophiccardiomyopathygenesandmechanisms