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Molecular genetics of hypertrophic cardiomyopathy
1Baylor College of Medicine, Pediatric Cardiology, 1 Baylor Plaza, Room 333E, Houston, TX 77030, USA. jtowbin@bcm.tmc.edu
Insights
Hypertrophic cardiomyopathy (HCM) is a heart disorder involving thickened heart muscle. This review discusses the genetic basis of HCM, focusing on sarcomere protein genes responsible for this heterogeneous disease.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is a significant cardiac disorder.
- It is characterized by interventricular septum and left ventricular wall hypertrophy.
- Histopathology often reveals myofiber disarray.
Purpose of the Study:
- To review the genetic basis of hypertrophic cardiomyopathy.
- To discuss the genes encoding sarcomere proteins implicated in familial HCM.
- To highlight the genetic and clinical heterogeneity of HCM.
Main Methods:
- Literature review of genetic studies in hypertrophic cardiomyopathy.
- Identification and listing of known causative genes for familial HCM.
- Discussion of sarcomere protein involvement.
Main Results:
- Nine genes encoding sarcomere proteins have been identified for familial HCM.
- These genes include beta-myosin heavy chain, alpha-tropomyosin, cardiac troponin T, troponin I, myosin binding protein-C, regulatory myosin light chain, essential myosin light chain, cardiac actin, and titin.
- HCM is a genetically and clinically heterogeneous disease.
Conclusions:
- The genetic basis of HCM is primarily linked to mutations in sarcomere protein genes.
- Understanding these genetic factors is crucial for diagnosing and managing HCM.
- Further research into the genetic underpinnings of HCM is warranted.
Abstract:
Hypertrophic cardiomyopathy (HCM), a serious and often tragic disorder, is characterized by hypertrophy of the interventricular septum and left ventricular wall, hypercontractile systolic function with diastolic dysfunction, and in some cases, left ventricular outflow tract obstruction. On histopathologic examination, myofiber disarray is common. The genes for familial cases of hypertrophic cardiomyopathy are known to encode members of the sarcomere and to date nine genes have been identified (beta-myosin heavy chain, alpha-tropomyosin, cardiac troponin T, troponin I, myosin binding protein-C, regulatory myosin light chain, essential myosin light chain, cardiac actin, and titin) for this genetically and clinically heterogeneous disease. In this review the genetic basis of HCM is discussed.