廖玉华-阜外心肌病诊治进展(英文).ppt

Advancement of diagnosis and therapy in cardiomyopathies 心肌病诊治进展 LIAO Yu-Hua Institute of Cardiology, Union Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China Contemporary Definitions and Classification of the Cardiomyopathies（2006AHA） Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation and are due to a variety of causes that frequently are genetic. Cardiomyopathies either are confined to the heart or are part of generalized systemic disorders, often leading to cardiovascular death or progressive heart failure–related disability. Classification Cardiomyopathies can be most effectively classified as primary: genetic, mixed (genetic and nongenetic), acquired; and secondary Primary cardiomyopathies are those solely or predominantly confined to heart muscle and are relatively few in number Secondary cardiomyopathies show pathological myocardial involvement as part of a large number and variety of generalized systemic (multiorgan) disorders Dilated Cardiomyopathy Dilated forms of cardiomyopathy are characterized by ventricular chamber enlargement and systolic dysfunction with normal LV wall thickness; usually diagnosis is made with 2-dimensional echocardiography DCM is a common and largely irreversible form of heart muscle disease with an estimated prevalence of 1:2500; it is the third most common cause of heart failure and the most frequent cause of heart transplantation DCM phenotype with genetic occurrenc About 20% to 35% of DCM cases have been reported as familial, although with incomplete and age-dependent penetrance, and linked to a diverse group of 20 loci and genes. DCM is also caused by a number of mutations in other genes encoding cytoskeletal/sarcolemmal, nuclear envelope, sarcomere, and transcriptional coactivator proteins. The most common