Katekolaminerg polymorf ventrikkeltakykardi : Artikkel i Tidsskrift for den norske legeforeningen

Abstract

ABSTRACT

Background CPVT (catecholaminergic polymorphic ventricular tachycardia) is an inheritable arrhythmogenic disease characterized by syncopes and cardiac arrest. It was first described in 1975, and has later been classified as a genetic disease with a great risk for life-threatening arrhythmias. CPVT is mainly caused by mutations in the genes encoding for ryanodine receptor 2. Starting with a case report, we present an overview of CPVT in this article.

Material and methods The literature reviewed was identified through a non-systematic search in PubMed.

Results Diagnosing CPVT may be difficult. As resting ECG is normal, the syncopes may be misdiagnosed as epilepsy. Information about syncopes related to physical or emotional stress and occurrence of unexplained syncopes or cardiac arrest among family members, are important clues in the diagnostic process. An exercise test often reveals the classic pattern of ventricular arrhythmias at heart rates above 100 beats/min. The diagnosis can be confirmed by genetic testing. Beta-blocker treatment can improve the prognosis, but if this does not provide sufficient arrhythmic control, an ICD (implantable cardioverter defibrillator) should be considered on an individual basis.

Interpretation CPVT is a severe disease with a poor prognosis if left untreated. It is a rare, but important differential diagnosis in young individuals with syncopes or cardiac arrest. Genetic screening of relatives has made it possible to identify mutation carriers at risk in affected families and provide them with preventive therapy.

Artikkel

Katekolaminerg polymorf ventrikkeltakykardi I S Leren K H Haugaa T Edvardsen O Anfinsen E Kongsgård K E Berge T P Leren J P Amlie. Tidsskr Nor Legeforen 2010; 130(2):139-42