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