Congenital cardiovascular disease and velo-cardio-facial syndrome

doi:10.1017/CBO9780511544101.004

3 - Congenital cardiovascular disease and velo-cardio-facial syndrome

Published online by Cambridge University Press: 11 August 2009

Bruno Marino ,

Federica Mileto ,

Maria Cristina Digilio ,

Adriano Carotti and

Roberto Di Donato

Edited by

Kieran C. Murphy and

Peter J. Scambler

Show author details

Bruno Marino: Affiliation:
Department of Pediatrics, University of Rome “La Sapienza”, Italy
Federica Mileto: Affiliation:
Department of Pediatrics, University of Rome “La Sapienza”, Italy
Maria Cristina Digilio: Affiliation:
Department of Clinical Genetics, Bambino Gesù Hospital, Rome, Italy
Adriano Carotti: Affiliation:
Department of Pediatic Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy
Roberto Di Donato: Affiliation:
Department of Pediatic Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy
Kieran C. Murphy: Affiliation:
Education and Research Centre, Royal College of Surgeons of Ireland
Peter J. Scambler: Affiliation:
Institute of Child Health, University College London

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Summary

Cardiovascular defects (CVD) are an important feature in children with DiGeorge/velo-cardio-facial/conotruncal anomaly face syndrome (DGS/VCFS/CTAF) associated with a chromosome 22q11 deletion (del 22q11). In a landmark paper, Freedom et al. (1972) reported a series of ten patients with conotruncal anomalies and aortic arch anomalies associated with DiGeorge syndrome (Freedom et al., 1972). In the last 20 years, many papers have documented various types of congenital heart defects in this condition (Kinouchi et al., 1976; Young et al., 1980; Conley et al., 1979; Moerman et al., 1980; Marmon et al., 1984; Van Mierop & Kutsche, 1986; Goldmuntz et al., 1993, 1998; Takahashi et al., 1995; Lewin et al., 1996; Webber et al., 1996; Momma et al., 1996a; Marino et al., 1997a, 1999b, 2001; Mehraein et al., 1997; Fokstuen et al., 1998; Iserin et al., 1998; Borgmann et al., 1999; Young et al., 1999; Frohn-Mulder et al., 1999).

Cardiovascular defects affect 75% of VCFS individuals and are the major cause of mortality (about 90% of all deaths) in this syndrome (Ryan et al., 1997; Matsuoka et al., 1998). Thus, VCFS represents a very important syndrome in pediatric cardiology and, after Down syndrome, is the most frequent genetic condition associated with CVD (Goodship et al., 1998).

It is interesting to note that the first description of a congenital heart defect in a patient probably affected by a del 22q11 was made in 1671 by Nicolai Stensen.

Keywords

chromosome 22q11 deletion congenital cardiovascular disease conotruncal anomaly face syndrome DiGeorge syndrome velo-cardio-facial syndrome prenatal diagnosis surgical implication

Type: Chapter
Information: Velo-Cardio-Facial Syndrome
A Model for Understanding Microdeletion Disorders
, pp. 47 - 82

DOI: https://doi.org/10.1017/CBO9780511544101.004 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2005

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3 - Congenital cardiovascular disease and velo-cardio-facial syndrome

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