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Pulmonary atresia with ventricular septal defect

Disease definition

Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).

ORPHA:1207

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q25.5
  • OMIM: 178370
  • UMLS: C0344976
  • MeSH: -
  • GARD: 4588
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.