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Hypoplastic left heart syndrome

Disease definition

Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.

ORPHA:2248

  • Synonym(s):
    • HLHS
  • Prevalence: Unknown
  • Inheritance: Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q23.4
  • OMIM: 241550  614435
  • UMLS: C0152101
  • MeSH: D018636
  • GARD: -
  • MedDRA: 10021076

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