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Dilated Cardiomyopathy Overview.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Jul 27 [updated 2015 Sep 24].

Author information

1
Professor of Medicine, Divisions of Human Genetics and Cardiovascular Medicine, The Ohio State University, Columbus, Ohio
2
Assistant Professor, Division of Human Genetics, The Ohio State University, Columbus, Ohio

Excerpt

CLINICAL CHARACTERISTICS:

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke.

DIAGNOSIS/TESTING:

Genetic forms of DCM must be distinguished from other identifiable causes. After exclusion of all identifiable non-genetic causes in a proband, DCM is traditionally referred to as idiopathic dilated cardiomyopathy (IDC). When two or more closely related family members meet a formal diagnostic standard for IDC, the diagnosis of familial dilated cardiomyopathy (FDC) is made. Rare genetic variation has been primarily assessed and demonstrated in familial disease. Pathogenic variants have also been identified in simplex IDC cases, although the frequency of genetic causation in non-familial versus familial cases is not yet settled. The genetic forms of DCM are diagnosed by family history and molecular genetic testing.

GENETIC COUNSELING:

Genetic DCM can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Mitochondrial inheritance has also been reported; however, mitochondrial forms of DCM, although highly variable in presentation (including mild adult-onset forms), are usually syndromic and thus outside the scope of this review. Genetic counseling and risk assessment depend on determination of the specific DCM subtype in an individual.

MANAGEMENT:

Treatment of manifestations: Treatment by physicians skilled in diagnosis and management of symptomatic and asymptomatic DCM improves survival and quality of life. Treatment modalities include pharmacologic therapy, pacemakers, or implantable cardiac defibrillators; cardiac transplantation remains the definitive treatment for progressive DCM and advanced heart failure refractory to medical or device therapy. Surveillance: Cardiovascular screening (physical examination, echocardiogram, ECG), is recommended: Every one to three years when a known pathogenic variant has been identified in an asymptomatic individual, including children, especially if early onset has been noted in the family; Every three to five years in adults or children who are first-degree relatives of an individual with idiopathic dilated cardiomyopathy in whom testing has not been performed or a pathogenic variant has not been identified. Pregnancy management: Pregnancy is contraindicated in most women with DCM. Pregnant women with idiopathic or familial dilated cardiomyopathy should be followed by a high-risk obstetrician. Asymptomatic women with a family history of idiopathic dilated cardiomyopathy may be at risk for peripartum cardiomyopathy (PPCM) and pregnancy-associated cardiomyopathy (PACM) and warrant management as per guidelines for the evaluation of DCM.

Copyright © 1993-2018, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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