Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum,and confluent branch pulmonary arteries

Varun Aggarwal, Michaki Imamura, Carlos Acuna, Antonio G. Cabrera

Research output: Contribution to journalArticle

Abstract

In this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities. By describing our patient, we aim to create awareness of this rare association.

Original languageEnglish (US)
Pages (from-to)467-470
Number of pages4
JournalCardiology in the young
Volume28
Issue number3
DOIs
StatePublished - Mar 1 2018
Externally publishedYes

Keywords

  • Chromosome 22q11 deletion
  • Confluent branch pulmonary arteries
  • Intact ventricular septum
  • Pulmonary atresia
  • Right aortic arch

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