catecholaminergic polymorphic ventricular tachycardia


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catecholaminergic polymorphic ventricular tachycardia

An inherited cardiac conduction disorder of early onset (age 7 to 9), which is characterised by episodic syncope occurring during exercise or acute emotion, which triggers ventricular tachycardia, usually followed by spontaneous recovery or less commonly by ventricular fibrillation and sudden death without CPR.

Diagnosis
Reproducible ventricular arrhythmias during exercise stress testing.

EKG
Alternating 180-degree-QRS axis on a beat-to-beat basis, so-called bidirectional VT, and irregular polymorphic VT without a "stable" QRS vector alternans.

Management 
Beta-blockers, even in absence of clinical disease; implantable cardioverter-defibrillator for recurrent cardiac arrest, anticoagulation as needed.

Prevent secondary complications 
Avoid exacerbating asthma, cardiac-specific beta-blocker: metoprolol is preferred. Follow-up visits with a cardiologist every 6–12 months to monitor therapy.
Avoid competitive sport and strenuous exercise.
Test blood relatives at risk with resting EKG, Holter monitoring, and exercise stress testing.

Genetic counselling
(1) RYR2-related CPVT is autosomal dominant—i.e., each child has a 50% chance of inheriting the mutation.
(2) CASQ2-related CPVT is autosomal recessive—i.e., each parent of an affected child is a carrier.
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References in periodicals archive ?
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.
Cardiac channelopathies are rare, inherited heart conditions including Long QT Syndrome (LQTS), LQTS large Deletion Duplication, Short QT Syndrome (SQTS), Brugada Syndrome (BrS) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
The FAMILION tests detect genetic mutations that can cause cardiac channelopathies, such as Long QT Syndrome (LQTS), Brugada Syndrome (BrS) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), or cardiomyopathies such as Hypertrophic Cardiomyopathy (HCM) and Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in individuals and their families.
Cardiac channelopathies are rare, potentially lethal heart conditions, including Long QT Syndrome (LQTS), Brugada Syndrome (BrS) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
s (NASDAQ: CLDA) PGxHealth(TM) division announced today that beginning October 22, 2007 its FAMILION family of genetic tests for cardiac channelopathies will include a test for Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) mutations.