Conditions / Genetic

arrhythmogenic right ventricular dysplasia 12

info · Genetic · ICD-10: I42.8

An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21.

Signs and symptoms

  • T-wave inversion
  • Right ventricular cardiomyopathy
  • Ventricular arrhythmia
  • Prolonged QRS complex
  • Syncope
  • Ventricular tachycardia
  • Woolly hair
  • Palmoplantar keratoderma

Also known as: ARVC12; ARVD12; arrhythmogenic right ventricular cardiomyopathy 12; familial arrhythmogenic right ventricular dysplasia 12