Related Experiment Video
Updated: Jun 15, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Understanding inherited cardiomyopathies: clinical aspects and genetic determinants
Gökhan Yigit1, Silke Kaulfuß1, Bernd Wollnik2
1Institute of Human Genetics University Medical Center Göttingen Heinrich-Düker-Weg 12 37073 Göttingen Germany.
Insights
Cardiomyopathies (CMs) are heart muscle diseases with diverse symptoms and causes, often genetic. Over 100 genes are linked to CM subtypes, advancing understanding and personalized treatments for heart failure.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Cardiomyopathies (CMs) are a leading cause of cardiovascular morbidity worldwide, characterized by heart muscle abnormalities.
- CMs present a wide spectrum of clinical manifestations, from asymptomatic conditions to heart failure and sudden cardiac death.
- Distinguishing inherited from acquired CMs is challenging due to incomplete penetrance and variable expressivity.
Purpose of the Study:
- To review the current understanding of cardiomyopathies, focusing on their classification, genetic underpinnings, and clinical implications.
- To highlight the progress in identifying genetic factors associated with various CM subtypes.
- To emphasize the role of genetic discoveries in advancing personalized treatment strategies for heart failure.
Main Methods:
- Review of scientific literature on cardiomyopathies, including genetic associations and clinical phenotypes.
- Classification of CMs into major subgroups: hypertrophic (HCM), dilated (DCM), arrhythmogenic (ACM), restrictive (RCM), and left ventricular non-compaction (LVNC).
- Analysis of the historical progression of genetic discoveries in CMs since the identification of *MYH7* variants.
Main Results:
- Cardiomyopathies encompass at least five distinct subgroups with overlapping clinical and genetic features.
- Over 100 genes have been implicated in the pathogenesis of various CM subtypes.
- Genetic research has significantly deepened the understanding of heart function and dysfunction at a cellular level.
Conclusions:
- Advances in genetic research have revolutionized the understanding of cardiomyopathies.
- Identification of causative genes facilitates improved diagnostics and the development of targeted therapies.
- Genetic insights are paving the way for personalized medicine approaches in managing cardiomyopathies and heart failure.
Abstract:
Cardiomyopathies (CMs) are a clinically heterogeneous group of cardiovascular diseases characterized by structural and functional abnormalities of the heart muscle in the absence of coronary artery disease, hypertension, valve disease, or congenital heart disease as a leading cause. The phenotypic spectrum of CMs ranges from silent heart failure to symptomatic heart failure and sudden cardiac death, and CMs are one of the leading causes of cardiovascular morbidity worldwide. CMs are highly heritable, although a clear distinction between inherited and acquired forms remains challenging, particularly due to observed incomplete penetrance and variable expressivity of inherited CMs. Based on their specific morphological phenotypes and functional characteristics, CMs can be divided into at least 5 different subgroups: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), restrictive cardiomyopathy (RCM), and (left ventricular) non-compaction cardiomyopathy (LVNC), which show both clinical as well as genetic overlap. Since the identification of pathogenic variants in MYH7 as a genetic cause of HCM in 1990, enormous progress has been made in understanding genetic factors contributing to cardiomyopathies. Currently, over 100 genes have been associated with at least one of the CM subtypes, providing a deeper understanding of the cellular basis of genetic heart failure syndromes, unveiling new insights into the molecular biology of heart function in both health and disease, and, thereby, facilitating the development of novel therapeutic strategies and personalized treatment approaches.
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