Guidelines for the Diagnosis and Management of Familial Dilated Cardiomyopathy

摘要: Dilated cardiomyopathy (DCM) is a myocardial disorder that major cause of heart failure and death. Recent data indicate genetic factors are important in the pathogenesis DCM may account for at least one-third cases "idiopathic" DCM. Apart from positive family history, there no specific clinical manifestations reliably distinguish familial non-familial DCM, phenotypic features vary between families within members single family. Clinical screening with ECG echocardiography all first-degree relatives index strongly recommended to identify disease determine number affected individuals families. Molecular genetics studies have shown genetically-heterogeneous nearly 40 chromosomal loci genes identified date. Mutations known occur relatively infrequently however. Although commercial testing selected available, cost low yield limited its widespread use. The development next-generation sequencing technologies promises expedite discovery new help take research laboratory into routine practice. Affected should receive standard pharmacological therapy according severity symptoms signs failure. Asymptomatic undergo periodic echocardiographic detect early disease. optimal management asymptomatic suspected not yet established.