Original Article
Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia

https://doi.org/10.1016/j.hlc.2011.10.008Get rights and content

Background

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmia syndrome, characterised by polymorphic ventricular tachycardia induced by adrenergic stress. CPVT can be caused by mutations the cardiac ryanodine receptor gene (RYR2) or mutations in the cardiac calsequestrin gene CASQ2. Structural heart disease is usually absent and the baseline ECG is usually normal. Patients with CPVT often present with exercise- or emotion induced syncope, the first presentation can also be sudden cardiac death.

Management

Besides removal of triggers treatment with beta blockers is currently a class I indication in clinically diagnosed patients. Beta blockage should be titrated up to an effective level. The addition of flecainide seems to be a promising approach in patients where arrhythmias are not completely suppressed by beta blockers. A cardioverter-defibrillator (ICD) or left cervical sympathetic denervation might be considered under special circumstances. Genetic counselling is recommended and all first degree relatives should be properly evaluated.

Section snippets

Definition and Prevalence

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmia syndrome, characterised by polymorphic ventricular tachycardia induced by adrenergic stress. Structural heart disease is usually absent and the baseline ECG is usually normal however bradycardia and ‘borderline’ QT interval have been reported. Exact prevalence is unknown with estimates of approximately 1:10,000.

Clinical Presentation

Patients with CPVT often present with exercise- or emotion induced syncope. Unfortunately the

Molecular Genetics

CPVT can be caused by mutations in the cardiac ryanodine receptor gene (RYR2), this is inherited in an autosomal dominant pattern. A less frequent cause is autosomal recessive inheritance caused by mutations in the cardiac calsequestrin gene CASQ2.

Both genes are involved in the release of calcium ions from the sarcoplasmic reticulum, for excitation–contraction coupling [4]. The presence of other not yet identified loci is postulated. Currently molecular genetic testing identifies heterozygous

Assessment of risk

Up to now there are insufficient data for satisfactory risk stratification. Patients who have had an episode of VF and those who have sustained or are haemodynamically unstable VT whilst receiving beta blockers are considered at highest risk. Younger age at CPVT diagnosis is a predictor of future cardiac events [6]. Invasive EP studies are not helpful [1]. Genetic analysis does not yet contribute to risk stratification in clinically diagnosed patients.

Removal of triggers

Either physical or emotional exertion can

Flowchart

Contact Details

Dr. Andreas Pflaumer, Cardiology, The Royal Children's Hospital Melbourne, 50 Flemington Road, Parkville 3052, Victoria, Australia. Phone: +61 0 3 9345 5713, email: [email protected].

Dr. Andrew Davis, Cardiology, The Royal Children's Hospital Melbourne, 50 Flemington Road, Parkville 3052,Victoria, Australia. Phone: +61 0 3 9345 5713, email: [email protected].

Useful Websites for Patients and Family

www.cidg.org (Cardiac inherited disease group New Zealand).

www.stopSADS.org (US page – Link to Australian group).

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