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Arrhythmogenic right ventricular dysplasia 12

Synonyms
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; Arrhythmogenic right ventricular cardiomyopathy, type 12

Summary

Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years). [from GeneReviews]

Available tests

64 tests are in the database for this condition.

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Clinical tests (64 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTNNG, DP3, DPIII, PDGB, PG, PKGB, JUP
    Summary: junction plakoglobin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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