The Clinical Characteristics, Pedigree Analysis And Mitochondrial DNA Mutation In Familial Dilated Cardiomyopathy

Dilated cardiomyopathy(DCM) is a heart muscle disease characterized by dilatation and impaired contraction of the left ventricle or both ventricles. Specific precipitating cause and pathogenetic mechanisms of DCM are unknown, it may be idiopathic,familial/genetic, viral and/or immune, alcoholic/toxic.Although DCM has traditionally been regarded as a sporadic nongenetic disorder, recent studies of large families with DCM suggest that inherited gene defects are an important cause of idiopathic DCM ("familial" DCM).Studies in which first degree relatives of probands have been evaluated systematically, irrespective of the presence of symptoms, with physical examination, 12-lead electrocar-diography, and transthoracic echocardiography, suggest a prevalence of familial dilated car diomyopathy (FDCM) up to 30%. Studies of families with DCM have revealed autosomal dominant, autosomal recessive, X-linked, and maternal modes of inheritance, with the autosomal dominant pattern observed most frequently. To date mutations in 16 autosomal genes have been suggested to be causative of FDCM.In order to explore the cinical characteristics and genetic phenomenon of FDCM, we evaluated the probands with FDCM and families members by detailed history and physical examination, 12-lead ECG, chest radiography,2D Doppler echocardiography . The clinical status of family members who had died was determined on the basis of medical records, any previous cardiac studies in the subjects were reviewed. The diagnosis...