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 ?
Treatment of catecholaminergic polymorphic ventricular tachycardia consists of limitation of moderate and high-intensity effort and administration of high-dose beta blocker drugs (propranolol, nadolol).
Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2007; 4: 675-8.
Clinical management of catecholaminergic polymorphic ventricular tachycardia: the role of left cardiac sympathetic denervation.
Laver et al., "Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans," Nature Medicine, vol.
Ruan et al., "Short communication: flecainide exerts an antiarrhythmic effect in a mouse model of catecholaminergic polymorphic ventricular tachycardia by increasing the threshold for triggered activity," Circulation Research, vol.
Vanninen et al., "Antiarrhythmic effects of dantrolene in patients with catecholaminergic polymorphic ventricular tachycardia and replication of the responses using iPSC models," PLoS One, vol.
Memmi et al., "Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model," Circulation Research, vol.
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001;103:196-200.
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69-74.
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res 2002;91:21-6.
Knollmann, "Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy," Journal of Electrocardiology, vol.