Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Congenital pulmonary veins atresia or stenosis

Orpha number ORPHA3188
Synonym(s) -
Prevalence Unknown
Inheritance Not applicable
Age of onset Childhood
ICD-10
  • Q26.8
ICD-O -
OMIM -
UMLS
  • C0265915
  • C0344679
MeSH -
MedDRA -
SNOMED CT
  • 11614003

Summary

Pulmonary veins (PV) stenosis is an heterogeneous entity including stenosis of normally positioned individual PV and PV obstruction accompanying total anomalous pulmonary venous connection. Congenital stenosis or atresia of individual PV is a very rare anomaly encountered in about 0.5% of autopsy in children. It may manifest as an isolated lesion or associated with other cardiac defects (more than 50% of cases). In all cases of congenital and acquired stenosis of PV, the lesion is progressive and includes narrowing of one or more PV at their junction with the left atrium, or hypoplasia with narrowed intra- or extrapulmonary portions at variable distances. Most commonly, all PV of one lung are affected, causing pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). By contrast, lesions of a single PV may not lead to PH. In case of PH and PAH, severe symptoms of pulmonary edema occur in early infancy including dyspnea, tachypnea, repeated pulmonary infections, hemoptysis, and in the most severe cases cyanosis and signs of right heart failure. Etiology of congenital stenosis or atresia of individual PV is a fibrotic stenosis. Acquired stenosis of PV may be due to constrictive pericarditis, mediastinitis, tuberculosis, obstructive tumors or operative scar. Angiocardiography may allow identification of the precise anatomy of PV stenosis. Without surgical treatment, patients with significant stenosis of all or most PV die before reaching adulthood and often much sooner. Overall prognosis is bad when at least 50% of PV are stenotic.

Expert reviewer(s)

  • Pr Hedwig HÖVELS-GÜRICH

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
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.