[Catecholaminergic polymorphic ventricular tachycardia].
BACKGROUND
CPVT (catecholaminergic polymorphic ventricular tachycardia) is a condition characterized by syncopes and cardiac arrest that was first described in 1975. CPVT has later been classified as a genetic disease with a great risk for life-threatening arrhythmias that are mainly caused by mutations in the ryanodine receptor 2 gene. Starting with a case report, we present an overview of CPVT.


METHODS
The literature reviewed was identified through a non-systematic search in PubMed.


RESULTS
Diagnosing CPVT may be difficult, as resting ECG is normal and 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, is important in the diagnostic evaluation. An exercise stress test often reveals the classical pattern of ventricular arrhythmias at heart rates above 100 beats/min. The diagnosis can be confirmed by genetic testing. By beta-blocker treatment and, if necessary, an ICD (implantable cardioverter defibrillator) the prognosis can be improved.


CONCLUSIONS
CPVT is a serious disease with a poor prognosis when 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 in affected families in order to provide them with preventive therapy.
Leren
Ida Skrinde
IS
Det medisinske fakultet, Universitetet i Oslo, Norway.
Haugaa
Kristina Hermann
KH
Edvardsen
Thor
T
Anfinsen
Ole-Gunnar
OG
Kongsgård
Erik
E
Berge
Knut Erik
KE
Leren
Trond P
TP
Amlie
Jan P
JP
D000293:Adolescent; D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D002395:Catecholamines; D003937:Diagnosis, Differential; D004562:Electrocardiography; D005080:Exercise Test; D005820:Genetic Testing; D006801:Humans; D008297:Male; D011379:Prognosis; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D013575:Syncope / Q000175:diagnosis; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D055815:Young Adult
D000319:Adrenergic beta-Antagonists; D002395:Catecholamines; D019837:Ryanodine Receptor Calcium Release Channel