Pulmonary atresia with intact ventricular septum and major aortopulmonary collaterals: association with deletion 22q11.2

C Li; A E Chudley; R Soni; A Divekar

doi:10.1007/s00246-003-0495-2

Pulmonary atresia with intact ventricular septum and major aortopulmonary collaterals: association with deletion 22q11.2

Pediatr Cardiol. 2003 Nov-Dec;24(6):585-7. doi: 10.1007/s00246-003-0495-2. Epub 2003 Jul 29.

Authors

C Li¹, A E Chudley, R Soni, A Divekar

Affiliation

¹ Section of Genetics and Metabolism, Children's Hospital, Health Sciences Center, Winnipeg Regional Health Authority, 840 Sherbrook Street, Winnipeg, Manitoba R3A 1S1, Canada.

PMID: 12881773
DOI: 10.1007/s00246-003-0495-2

Abstract

We describe the first association of pulmonary atresia, intact ventricular septum, and absent central pulmonary arteries with deletion 22q11.2. The pulmonary blood flow was derived from major aortopulmonary collaterals. The role of the deletion in pulmonary arborization is discussed.

Publication types

Case Reports

MeSH terms

Chromosome Deletion*
Chromosomes, Human, Pair 22*
Collateral Circulation
Fatal Outcome
Humans
Infant, Newborn
Male
Pulmonary Artery / abnormalities*
Pulmonary Atresia / genetics*