Conditions / Genetic

dilated cardiomyopathy 2D

info ยท Genetic

A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heter

A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.

Signs and symptoms

  • Interstitial cardiac fibrosis
  • Reduced left ventricular ejection fraction
  • Perinuclear cardiomyocyte vacuolization
  • Dilated cardiomyopathy
  • Pulmonary arterial hypertension
  • Tricuspid regurgitation
  • Mitral regurgitation
  • Muscular ventricular septal defect
  • Patent foramen ovale
  • Cardiogenic shock