Congenital cardiovascular disease and velo-cardio-facial syndrome

Bruno Marino, Federica Mileto, Maria Cristina Digilio, Adriano Carotti, Roberto Di Donato

Research output: Chapter in Book/Report/Conference proceedingChapter


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.

Original languageEnglish
Title of host publicationVelo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders
PublisherCambridge University Press
Number of pages36
ISBN (Print)9780511544101, 9780521821858
Publication statusPublished - Jan 1 2005

ASJC Scopus subject areas

  • Medicine(all)


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