Genetic abnormalities responsible for dilated cardiomyopathy.
Dilated cardiomyopathy (DCM), a disorder in which left ventricular dilation and dysfunction leads to congestive heart failure, is inherited in over 30% of cases. The underlying genetic mechanisms are slowly being unraveled, with multiple genes recently identified as causing DCM in some patients. The genes identified to date appear to encode proteins that either support the cytoskeleton or interact with the cytoskeleton. When mutated, these proteins destabilize the cardiomyocyte membrane or cytoskeleton via mechanical instability or force transduction causing poor cardiac systolic function and compensatory dilation. Once the entire group of genes causing DCM (genetic heterogeneity) are identified, improvements in diagnosis and treatment are expected.
Towbin
J A
JA
Baylor College of Medicine, Pediatric Cardiology, 1 Baylor Plaza, Room 333E, Houston, TX 77030, USA. jtowbin@bcm.tmc.edu
Bowles
N E
NE
D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D003599:Cytoskeleton / Q000235:genetics; D016189:Dystrophin / Q000235:genetics; D008040:Genetic Linkage; D006333:Heart Failure / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics; D009154:Mutation; D013577:Syndrome; D014960:X Chromosome
D016189:Dystrophin; D008565:Membrane Proteins