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Inherited syndromes associated with cardiac disease

William J McKenna, MD
Section Editor
Bernard J Gersh, MB, ChB, DPhil, FRCP, MACC
Deputy Editor
Susan B Yeon, MD, JD, FACC


Hypertrophic, dilated, and arrhythmogenic right ventricular cardiomyopathies are inherited heart muscle disorders in which disease-causing genes are identifiable in the majority of patients (table 1). (See "Hypertrophic cardiomyopathy: Gene mutations and clinical genetic testing" and "Genetics of dilated cardiomyopathy" and "Arrhythmogenic right ventricular cardiomyopathy: Pathogenesis and genetics" and "Definition and classification of the cardiomyopathies".)

In addition, a number of inherited syndromes consist of defects that produce systemic as well as cardiac manifestations, most of which affect skeletal muscle. These disorders will be briefly reviewed here and are discussed in detail on the appropriate topic reviews. Amyloid cardiomyopathy and cardiac manifestations of Fabry disease are discussed in detail separately. (See "Clinical manifestations and diagnosis of amyloid cardiomyopathy" and "Fabry disease: Clinical features, diagnosis, and management of cardiac disease".)


Cardiomyopathy occurs in a variety of inherited neuromuscular disorders. The underlying neuromuscular disease is usually apparent at the onset of cardiac disease but some patients have no or only mild neurologic manifestations.

Dystrophin disorders — Mutations in the dystrophin gene on the X chromosome produce both Duchenne and Becker muscular dystrophy. In addition, deletions in the 5' muscle promoter of the dystrophin gene can cause a predominant cardiac phenotype that presents as a dilated cardiomyopathy. Skeletal muscle biopsies of individuals with X-linked dilated cardiomyopathy due to dystrophin deletions demonstrate the classic pathologic changes of Duchenne or Becker dystrophies, but the muscle manifestations may be subclinical. (See "Genetics of dilated cardiomyopathy", section on 'Dystrophin gene mutations'.)

Duchenne muscular dystrophy — Duchenne muscular dystrophy (DMD) is caused by a defective gene located on the X chromosome that is responsible for the production of dystrophin, a high molecular weight protein that is localized to the sarcolemmal membrane of normal skeletal muscle. Patients with DMD have complete or almost complete absence of dystrophin in skeletal muscle. The clinical onset of weakness usually occurs between two and three years of age. (See "Clinical features and diagnosis of Duchenne and Becker muscular dystrophy".)

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Literature review current through: Nov 2017. | This topic last updated: Dec 05, 2016.
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