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 ?
Binah, "Modeling catecholaminergic polymorphic ventricular tachycardia using induced pluripotent stem cell-derived cardiomyocytes," Rambam Maimonides Medical Journal, vol.
Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia," Circulation, vol.
Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia," EMBO Molecular Medicine, vol.
Cell model of catecholaminergic polymorphic ventricular tachycardia reveals early and delayed after depolarizations," PLoS ONE, vol.
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.
Knollmann, "Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy," Journal of Electrocardiology, vol.
Calcium channel blockers and beta-blockers versus beta-blockers alone for preventing exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia," Heart Rhythm, vol.
Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation," Journal of Cardiovascular Electrophysiology, vol.
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).
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited heart rhythm disorder caused by mutations in critical proteins that comprise the calcium release channel (ryanodine receptor) macromolecular complex in the heart.
Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia.