Catecholaminergic polymorphic ventricular tachycardia

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Disease Overview

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age.  If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion.[5794] In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT.  An Implantable Cardioverter Defibrillator (ICD) may also be needed. 


Synonyms

  • Familial polymorphic ventricular tachycardia
  • Catecholamine-induced polymorphic ventricular tachycardia
  • CPVT
  • Syncopal paroxysmal tachycardia
  • Polymorphic catecholergic ventricular tachycardia
  • Stress-induced polymorphic ventricular tachycardia
  • Bidirectional tachycardia induced by catecholamine
  • Double tachycardia induced by catecholamines
  • Malignant paroxysmal ventricular tachycardia
  • Multifocal ventricular premature beats

For more information, visit GARD.

National Organization for Rare Disorders