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Familial dilated cardiomyopathy: Prevalence, diagnosis and treatment

Ray E Hershberger, MD
Section Editors
William J McKenna, MD
Benjamin A Raby, MD, MPH
Deputy Editor
Susan B Yeon, MD, JD, FACC


Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and is the most common diagnosis in patients referred for cardiac transplantation. DCM is characterized by dilatation and systolic dysfunction of one or both ventricles. (See "Definition and classification of the cardiomyopathies".)

DCM is classified as idiopathic (idiopathic dilated cardiomyopathy, or IDC) when all detectable causes have been excluded (except genetic causes). Potentially diagnosable causes of DCM include a variety of toxic, metabolic, or infectious agents. (See "Causes of dilated cardiomyopathy".) Ischemic heart disease must also be excluded. Although specialists commonly apply the diagnosis of IDC to DCMs of unknown cause, clearly some etiology is present but not yet detected.

Family-based studies of first-degree relatives of patients with IDC have established that familial dilated cardiomyopathy (known as familial DCM, or FDC) can be identified in 20 to over 50 percent of patients diagnosed with IDC by clinical screening of family members [1]. Most familial DCM is transmitted in an autosomal dominant inheritance pattern, although all inheritance patterns have been identified (autosomal recessive, X-linked, and mitochondrial). During the past 20 years, familial DCM genetic studies have identified mutations in more than 30 genes.

Most patients with genetic DCM will have an initial diagnosis of idiopathic DCM. Given the frequency of familial DCM, evaluation of new idiopathic DCM cases should include a careful three to four generation family history, clinical screening of first-degree family members as described below, and consideration of molecular genetic testing.

This topic will discuss the diagnosis and prevalence of familial DCM and guidelines for identifying and treating familial DCM. The phenotypes and genes associated with DCM are discussed separately. (See "Genetics of dilated cardiomyopathy".)


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Literature review current through: Sep 2016. | This topic last updated: Mar 22, 2016.
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