Cardiomyopathy

Cardiomyopathy is defined as the disease of heart muscle associated with cardiac dysfunction. Based on morphological and functional characteristics, it is classified into four categories: hypertrophic, dilated, arrhythmogenic right ventricular, and restrictive. Their molecular mechanisms are discussed in a detailed review article, which also provides background information such as the structure of cardiac myocytes and the mechanism of contraction.

Associated Genes

Gene	Protein	Disease
ACTC	Cardiac actin	HCM, DCM
CLP	Cardiac LIM domain protein	HCM
Cypher/ZASP	LIM domain binding 3	DCM
DES	Desmin	DCM, RCM
DMD	Dystrophin	DCM
DSP	Desmoplakin	ARVC
JUP	Junction plakoglobin	ARVC
LMNA	Lamin A/C	DCM
MYBPC3	Myosin binding protein C	HCM, DCM
MYH7	b myosin heavy chain	HCM, DCM
MYL2	Myosin light chain 2	HCM
MYL3	Myosin light chain 3	HCM
PRKAG2	AMPK g subunit	HCM
RYR2	Cardiac ryanodine receptor	ARVC
SGCD	d-Sarcoglycan	DCM
TAZ	Tafazzin	DCM
TNNC1	Troponin C	HCM
TNNI3	Troponin I	HCM, RCM
TNNT2	Troponin T2	HCM, DCM
TPM1	Tropomyosin 1 (a)	HCM, DCM
TTN	Titin	HCM, DCM
VCL	vinculin	DCM

Abbreviations:
HCM= Hypertrophic Cardiomyopathy; DCM= Dilated Cardiomyopathy;
ARVC= Arrhythmogenic Right Ventricular Cardiomyopathy; RCM= Restrictive Cardiomyopathy

Review Articles:

Roles of Cardiac Transcription Factors in Cardiac Hypertrophy - Circulation Research, 2003.

Molecular Mechanisms of Inherited Cardiomyopathies - Physiol. Review, 2002.

Losing heart: the role of apoptosis in heart disease - FASEB J., 2002.