Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterized by irregular heart rhythms brought on by physical exertion or intense emotion. CPVT may cause syncope (fainting), cardiac arrest, or sudden cardiac death in affected individuals. The baseline electrocardiogram (ECG) and echocardiogram are typically normal, and CPVT is clinically diagnosed when a hallmark type of cardiac arrhythmia, known as polymorphic or bidirectional ventricular tachycardia, is seen on ECG during exercise. Genetically, two forms of CPVT have been identified: an autosomal dominant form, known as CPVT1, associated with sequence variants in the cardiac ryanodine receptor type 2 gene (RYR2); and a recessive form, known as CPVT2, typically associated with homozygous sequence variants in the calsequestrin 2 gene (CASQ2). CPVT is estimated to affect 1 in 10,000 people. Current treatment for CPVT includes the use of oral betablockers, and potential insertion of an implantable cardioverter defibrillator (ICD). Without treatment, a mortality rate of 30% to 50% by age 35 has been reported.
- Tachycardia, Ventricular