Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor

The American Journal of Cardiology
L H Van Mierop, L M Kutsche


One hundred sixty-one cases of DiGeorge syndrome (111 previously reported in which details concerning individual patients were given and 50 observed) were analyzed for occurrence and type of cardiovascular anomalies. Only 5 patients had a normal heart. Interrupted aortic arch type B was the major anomaly in 48 patients and persistent truncus arteriosus in 37. Therefore, in about half of the patients with DiGeorge syndrome the major anomaly was one that is rare. Conversely, of those patients with interrupted aortic arch, 68% had DiGeorge syndrome, as did 33% of all patients with truncus arteriosus. Although tetralogy of Fallot was also seen often in DiGeorge syndrome (10 patients), these cases represented less than 2% of the total number of cases of tetralogy of Fallot. Similarly, less than 1% of children with isolated ventricular septal defect or transposition of the great arteries had DiGeorge syndrome. The primary cardiovascular anomaly always involved the aortic arch system or the arterial pole of the heart. Recent studies show that neural crest cells play a crucial role in development of pharyngeal (bronchial) pouch derivatives, e.g., thymus and parathyroid glands, as well as the aortic arches and the truncoconal part of th...Continue Reading


Jun 13, 1997·American Journal of Medical Genetics·M C JohnsonM S Watson
Sep 19, 1997·American Journal of Medical Genetics·B MarinoB Dallapiccola
May 18, 2001·Developmental Dynamics : an Official Publication of the American Association of Anatomists·S M Orestes-CardosoA Berdal
Mar 1, 1993·Pediatric Cardiology·R K WyseK Blake
Mar 1, 1993·Pediatric Cardiology·J W GobelJ E Edwards
Jan 1, 1990·Journal of Inherited Metabolic Disease·Margaret L Kirby, S T Miyagawa
Jul 1, 1996·European Journal of Pediatrics·M C DigilioB Dallapiccola
Aug 11, 2010·Pediatric Cardiology·Alakananda GhoshBrojendra Agarwala
Aug 7, 2012·Pediatric Cardiology·Rachel McDonaldPunkaj Gupta
Dec 9, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·A BottaA Baldini
Jul 3, 2002·Current Treatment Options in Cardiovascular Medicine·Satinder K. Sandhu, Timothy W. Pettitt
Aug 28, 2003·Current Treatment Options in Cardiovascular Medicine·Douglas D. Mair, Franciso J. Puga
Jan 1, 1996·Journal of the American College of Cardiology·K MommaR Matsuoka
Jan 1, 1993·Trends in Cardiovascular Medicine·Margaret L Kirby
Feb 1, 1997·The American Journal of Cardiology·A KumarD W Sapire
Jan 15, 1997·The American Journal of Cardiology·P FrancalanciB Marino
Jul 1, 1995·The American Journal of Cardiology·M C JohnsonM S Watson
Jan 22, 1998·The Annals of Thoracic Surgery·D M MelloF L Hanley
May 13, 1999·The Annals of Thoracic Surgery·D B McElhinneyA M Rudolph
Sep 1, 1988·The Journal of Pediatrics·L D KeppenC H Miller
Apr 28, 1999·Pediatric Clinics of North America·R G Grifka
May 3, 2003·International Journal of Cardiology·Jesse Li-Ling
Oct 8, 1997·Journal of the American College of Cardiology·K MommaR Matsuoka
Aug 26, 1998·Journal of the American College of Cardiology·E GoldmuntzD A Driscoll
Mar 1, 1995·Trends in Cardiovascular Medicine·D M NodenA C Gittenberger-de Groot
Jan 19, 2000·Molecular Medicine Today·A Baldini
Dec 11, 1999·Cardiology in the Young·R KaulitzM E van der Velde
Oct 4, 2007·Cardiology in the Young·Toshio Nakanishi


Sep 1, 1985·The Anatomical Record·Margaret L KirbyB M Hays
Apr 1, 1967·Archives of Disease in Childhood·J HuberH E Zoethout
Aug 1, 1984·The Annals of Thoracic Surgery·L M MarmonJ M Dunn
Oct 1, 1984·The American Journal of Cardiology·L H Van Mierop, L M Kutsche
Jan 1, 1984·Pediatric Cardiology·L H Van Mierop
Feb 3, 1984·Science·D E Bockman, Margaret L Kirby
Jan 1, 1984·European Journal of Pediatrics·W E WinterE Kiel
May 1, 1984·The Anatomical Record·Margaret L Kirby, D E Bockman
Oct 1, 1982·American Journal of Diseases of Children·A J AmmannE R Stiehm
Apr 1, 1962·The Journal of Pediatrics·D W SMITHS L INHORN

Related Concepts

Bronchial System
Immunologic Deficiency Syndromes
Truncus Arteriosus
Neoplasm of Uncertain or Unknown Behavior of Thymus
Truncus Arteriosus, Persistent
Transposition of Great Vessels
Disease of Thymus Gland
Truncus Arteriosus Gene
Morphologically Abnormal Structure (Morphologic Abnormality)

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