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Pulmonary atresia-intact ventricular septum syndrome

Disease definition

Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.

ORPHA:1208

  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q22.6
  • OMIM: 265150
  • UMLS: C0344975
  • MeSH: -
  • GARD: 4600
  • MedDRA: -

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