Conditions / Genetic

dilated cardiomyopathy 2E

info ยท Genetic

A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or comp

A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.

Signs and symptoms

  • Reduced systolic function
  • Dilated cardiomyopathy
  • Ebstein anomaly of the tricuspid valve