1、Advancement of diagnosis and therapy in cardiomyopathies 心肌病诊治进展 LIAO Yu-HuaInstitute 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 ar
2、e 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 con
3、fined to the heart or are part of generalized systemic disorders, often leading to cardiovascular death or progressive heart failurerelated disability.Maron BJ, et al. Circulation， 2006， 113:1807-1816 Classification Cardiomyopathies can be most effectively classified as primary: genetic, mixed (gene
4、tic and nongenetic), acquired; and secondary1. Primary cardiomyopathies are those solely or predominantly confined to heart muscle and are relatively few in number2. Secondary cardiomyopathies show pathological myocardial involvement as part of a large number and variety of generalized systemic (mul
5、tiorgan) disordersMaron BJ, et al. Circulation， 2006， 113:1807-1816 Maron BJ, et al. Circulation， 2006， 113:1807-1816 Dilated Cardiomyopathy Dilated forms of cardiomyopathy are characterized by ventricular chamber enlargement and systolic dysfunction with normal LV wall thickness; usually diagnosis
6、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 transplantationMaron BJ, et al. Circulation， 2006， 113:180
7、7-1816 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/sarcol
8、emmal, nuclear envelope, sarcomere, and transcriptional coactivator proteins. The most common of these probably is the lamin A/C gene, also associated with conduction system disease, which encodes a nuclear envelope intermediate filament protein.Maron BJ, et al. Circulation， 2006， 113:1807-1816 DCM
9、phenotype with sporadic occurrence Infectious agents, particularly viruses (coxsackievirus, adenovirus, parvovirus, HIV); bacterial; fungal rickettsial; myobacterial; and parasitic Other causes include toxins; chronic excessive consumption of alcohol; chemotherapeutic agents; metals and other compou
10、nds; autoimmune and systemic disorders; pheochromocytoma; neuromuscular disorders such as Duchenne/Becker and Emery-Dreifuss muscular dystrophies; and mitochondrial, metabolic, endocrine, and nutritional disordersMaron BJ, et al. Circulation， 2006， 113:1807-1816 Criteria left ventricular end-diastol
11、ic dimension（ LVEDd） 2.7cm/m2 left ventricular ejection fraction（ LVEF） 45% and/or factional shortening 25% Exclusion： hypertension, CHD, long-term overdose drinking alcohol, persistence supraventricular arrhythmia, systemic disease, pericardial disease, congenital heart disease, pneumocardial disea
12、se Diagnostic criteria of idiopathic dilated cardiomyopathyManolio TA, et al. Am J Cardiol， 1992， 69： 145966 diagnostic criteria of dilated cardiomyopathy The diagnosis of familial dilated cardiomyopathy is made:1. in the presence of two or more affected individuals in a single family2. or in the pr
13、esence of a first-degree relative of a dilated cardiomyopathy patient, with well documented unexplained sudden death at 35 years of ageDiagnosis of familial dilated cardiomyopathyMestroni L, et al. Euro Heart J， 1999， 20: 93102 diagnostic criteria of dilated cardiomyopathy immunologic markers anti-h
14、eart antibodies are main markers1 including: anti-ANT Ab、 anti-1-receptor Ab、 anti-MHC Ab、 anti-M2-receptor AbSecondary markers including： persistent viral infection Th2 cell predominance cytokines genetype of humam leucocyte antigenDiagnosis of immunedilated cardiomyopathy 1 苑海涛，廖玉华等 . 临床心血管病杂志， 2000, 16:313-315
