Catecholaminergic polymorphic ventricular tachycardia ( CPVT )





 It abnormal heart rythm in response to physical activity or emotional stress

  • episodes of VT can cause light headedness, dizzeness, and syncope
  • episodes begin in childhood
  • if not recognized and treated, it may cause cardiac arrest leading to sudden death


Etiology

inherited disease

  • If mutation in RYR2 gene, will inherited in the form of Autosomal dominant and it occure in 50% of cases
  • If mutation in CASQ2 gene, will inherited in the form of Autosomal ressissive and occure in 5% of cases
  • the both genes provide instructions for making protein that help in maintain normal heart beat by controlling calcium movement within myocytes