Pulmonary atresia with ventricular septal defect: Prevalence of deletion 22q11 in the different anatomic patterns

S. Anaclerio, B. Marino, A. Carotti, M. C. Digilio, A. Toscano, P. Gitto, A. Giannotti, R. Di Donato, B. Dallapiccola

Research output: Contribution to journalArticle

Abstract

Background. Pulmonary atresia with ventricular septal defect (PA-VSD) is one of the most common cardiac defects associated with DiGeorge syndrome. The pattern of the pulmonary circulation determines the complexity of this type of heart disease. The aim of this study was to establish the prevalence of DiGeorge syndrome with deletion 22q11 in patients with simple and complex PA-VSD. Methods. Since 1993 we have studied 128 consecutive patients affected by PA-VSD. In 90 of our patients the PA-VSD was considered "simple" (group I), because it was not associated with any other cardiac defects. In the other 38 children the PA-VSD was considered "complex" (group II) owing to the presence of heterotaxia, tricuspid atresia, a double-inlet left ventricle, transposition of the great arteries and congenitally corrected transposition of the great arteries. Results. In group I, 38 patients (42%) had genetic syndromes or major extracardiac anomalies; deletion 22q11 was detected in 31% of cases. Major aortopulmonary collateral arteries were present in 50% of group I patients and in 57% of those with deletion 22q11. In group II, 10 patients (26%) had genetic syndromes or major extracardiac anomalies but none had deletion 22q11 (p

Original languageEnglish
Pages (from-to)384-387
Number of pages4
JournalItalian Heart Journal
Volume2
Issue number5
Publication statusPublished - 2001

Keywords

  • Congenital heart disease
  • Deletion 22q11
  • Genetics

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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