Common arterial trunk, DiGeorge syndrome and microdeletion 22q11

Bruno Marino, M. Cristina Digilio, Alessandra Toscano

Research output: Contribution to journalArticle

Abstract

DiGeorge anomaly and related syndromes are frequent genetic conditions (1/4000 per live birth) characterized by conotruncal heart disease, anomalies of the face, thymic dysfunction, hypoparathyoidism and developmental delay, due to microdeletion of chromosome 22q11. Common arterial trunk (CAT) is one of the classic conotruncal defect of this syndrome; it ranges between 3 and 10% of patients and the prevalence of deletion 22q11 in a population of children with CAT is 30%. In patients with CAT and deletion 22q11 there is a prevalence of additional anomalies of the aortic arch (interruption, right sided or double aortic arch) and/or of the pulmonary arteries (discontinuity, stenosis or crossed pulmonary arteries). Severe dysplasia of the truncal valve (insufficiency and/or stenosis) can be present as well as the truncal origin from the right ventricle. These additional cardiovascular defects could complicate surgical repair. A multispecialistic approach is indicated for these patients in order to reduce mortality and mobidity.

Original languageEnglish
Pages (from-to)9-17
Number of pages9
JournalProgress in Pediatric Cardiology
Volume15
Issue number1
DOIs
Publication statusPublished - 2002

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DiGeorge Syndrome
Thoracic Aorta
Live Birth
Pulmonary Artery
Heart Ventricles
Heart Diseases
Pathologic Constriction
Chromosomes
Mortality
Population

Keywords

  • Common arterial trunk
  • DiGeorge syndrome
  • Genetic syndromes
  • Microdeletion 22q11

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Common arterial trunk, DiGeorge syndrome and microdeletion 22q11. / Marino, Bruno; Digilio, M. Cristina; Toscano, Alessandra.

In: Progress in Pediatric Cardiology, Vol. 15, No. 1, 2002, p. 9-17.

Research output: Contribution to journalArticle

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