Original ArticleGuidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia
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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