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

Published online by Cambridge University Press:  11 August 2009

By
Bruno Marino ,
Federica Mileto ,
Maria Cristina Digilio ,
Adriano Carotti  and
Roberto Di Donato
Edited by
Kieran C. Murphy  and
Peter J. Scambler
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 deletioncongenital cardiovascular diseaseconotruncal anomaly face syndromeDiGeorge syndromevelo-cardio-facial syndromeprenatal diagnosissurgical implication
Type
Chapter
Information
Velo-Cardio-Facial Syndrome
A Model for Understanding Microdeletion Disorders
 , pp. 47 - 82
Publisher: Cambridge University Press
Print publication year: 2005

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