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GTR Home > Conditions/Phenotypes > Catecholaminergic polymorphic ventricular tachycardia 5

Catecholaminergic polymorphic ventricular tachycardia 5

Synonyms
CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness

Summary

Excerpted from the GeneReview: Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Carlo Napolitano
Andrea Mazzanti
Raffaella Bloise
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Available tests

49 tests are in the database for this condition.

Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CARDAR, CPVT5, TDN, TRISK, TRDN
    Summary: triadin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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