Orphanet: Heritable pulmonary arterial hypertension

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Heritable pulmonary arterial hypertension

Disease definition

Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.


Classification level: Subtype of disorder
  • Synonym(s):
    • FPAH
    • Familial pulmonary arterial hypertension
    • HPAH
    • Hereditary pulmonary arterial hypertension
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: I27.0
  • OMIM: 178600  615342
  • UMLS: C0340543  C1701939
  • MeSH: -
  • GARD: -
  • MedDRA: -
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