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GTR Home > Conditions/Phenotypes > Arrhythmogenic right ventricular dysplasia, familial, 14

Arrhythmogenic right ventricular dysplasia, familial, 14

Synonyms
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 14

Summary

Arrhythmogenic right ventricular cardiomyopathy/dysplasia-14 (ARVD14) is characterized by palpitations, chest pain, and presyncope. Electrocardiography shows epsilon waves, T-wave inversion across anterior leads, premature ventricular contractions, ventricular tachycardia, and left bundle branch block. Dilation of the right ventricle with hypokinesia and aneurysmal changes are seen on echocardiography. Cardiac MRI may show fibrofatty infiltration, which has been confirmed by endocardial biopsy in some patients. Sudden death may occur (Mayosi et al., 2017). For a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970). [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACOGS, ADHD8, ARVD14, CD325, CDHN, CDw325, NCAD, CDH2
    Summary: cadherin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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