Cardiac defects in patients with digeorge/ velocardiofacial syndrome

B. Marino, M. C. Digilio, A. Toscano, A. Giannotti, B. Dallapicola

Research output: Contribution to journalArticlepeer-review


Congenital heart disease (CHD) is a major problem in patients with DiGeorge/Velocardiofacial syndrome (DG/VCFS) with a prevalence of 75%. In this syndrome about the 90% of deaths are due to CHD. Deletion 22qll and CHD are always associated with extracardiac anomalies an/or characteristic phenotype. Conotruncal anomalies are prevalent, including tetralogy of Fallot (TF) with or without pulmonary atresia. interruption of the aortic arch (1AA) and truncus arteriosus (TA), but other CHDs. including ventricular septal defect, coarctation of the aorta, transposition of the great arteries (TGA) and tricuspid atresia. may be present. Among these CHDs peculiar anatomic subtypes are frequent. In particular, in patients with TF right aortic arch (RAA). absent infundibular septum and major aortopulmonary collateral arteries, in patients with 1AA the type B, and in children with TA RAA. discontinuity of the pulmonary artery and truncal valve stenosis. Interestingly, other types of conotruncal CflD are not associated with DGA'CFS, as congenitally corrected TGA, neterotaxy and 1AA in the setting of complex CHD. The knowledge of these aspects is useful for the management of these patients, since the anatomic subtypes should influence the surgical prognosis.

Original languageEnglish
Pages (from-to)100
Number of pages1
JournalGenetic Counseling
Issue number1
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Genetics(clinical)


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