[Hereditary cardiomyopathies: a review. Mutation of structural proteins a common cause of hereditary cardiomyopathy].
Cardiomyopathy is a disorder of the cardiac muscle and can be either primary or secondary. The primary disorders have been classified by WHO into 4 groups based on structure and function; hypertrophic, dilated and restricted cardiomyopathies and arrythmogenic right ventricle dysplasia. During the last decade the familial nature of many of these cardiomyopathies has been elucidated and different genes have been found to be mutated and causative of disease. Certain patterns can be distinguished in the mutated genes, e.g. in general the genes causing hypertrophic cardiomyopathies code for proteins involved in the contractile apparatus, the sarcomere, and the genes causing dilated cardiomyopathy code for proteins that anchor the sarcomere to the cell membrane and extracellular matrix. This article reviews these recent genetic findings and discusses their potential clinical applicability.
Sjöberg
Gunnar
G
Barnkardiologiska sektionen, Astrid Lindgrens barnsjukhus, Stockholm. gunnar.sjoberg@cmm.ki.se
Kostareva
Anna
A
Sejersen
Thomas
T
D009202:Cardiomyopathies / Q000145:classification / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002313:Cardiomyopathy, Restrictive / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D009206:Myocardium / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D012518:Sarcomeres / Q000378:metabolism / Q000502:physiology
D009124:Muscle Proteins