Molecular diagnosis of myocardial disease.
Myocardial disorders are major causes of morbidity and mortality, including heart failure, sudden death and the need for heart transplantation. The two most common forms of myocardial disorders, dilated cardiomyopathy and hypertrophic cardiomyopathy are paradigms of left ventricular systolic dysfunction and diastolic dysfunction. The genetics of these disorders are increasingly understood with the sarcomere playing a central role in the development of HCM and the link between sarcomere and sarcolemma being key to the development of DCM. In this review, the genetics of the myocardial diseases will be described.
Towbin
Jeffrey A
JA
Department of Pediatrics Cardiology, Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030, USA. jtowbin@bcm.tmc.edu
Bowles
Neil E
NE
D008841:Actin Cytoskeleton / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000818:Animals; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics; D003952:Diagnostic Imaging; D004195:Disease Models, Animal; D005260:Female; D005544:Forecasting; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D051379:Mice; D008954:Models, Biological; D025202:Molecular Diagnostic Techniques; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics; D010641:Phenotype
D009124:Muscle Proteins