catecholaminergic polymorphic ventricular tachycardia; stress-induced polymorphic ventricular tachycardia

Genetics

• autosomal dominant form associated with defects in RYR2 (type1)
• autosomal recessive form associated with defects in CASQ2 (type 2)
• autosomal dominant form associated with defects in CALM1 (type4)
• may be associated with defects in CALM3

Clinical manifestations

• syncope, seizures, or sudden death after physical activity or emotional stress

Diagnostic procedures

electrocardiogram

• stress-induced polymorphic ventricular tachycardia

Complications

• polymorphic ventricular tachycardia may degenerate into cardiac arrest & cause sudden death

Management

• beta-blocker
• implantable defibrillator
• abstinence from exercise

More general terms

• genetic disease of the heart
• polymorphic ventricular tachycardia

Database

• OMIM: https://mirror.omim.org/entry/604772
• OMIM: https://mirror.omim.org/entry/611938
• OMIM: https://mirror.omim.org/entry/614916