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GTR Home > Conditions/Phenotypes > Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Synonyms
Autosomal dominant cardiac arrhythmia (Kuhn)

Summary

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is characterized by syncope, cardiac arrest, and/or sudden unexpected death. Polymorphic ventricular tachycardia and ventricular fibrillation have been documented in these patients. Symptoms generally occur with physical activity or emotional stress, but unlike typical catecholaminergic ventricular tachycardia (CPVT), arrhythmias are not reproducible on exercise stress testing or adrenaline challenge (Sun et al., 2021). Mutation in the RYR2 gene also causes catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1; 604772). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARVC2, ARVD2, RYR-2, RyR, VACRDS, VTSIP, RYR2
    Summary: ryanodine receptor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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