Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

Iserin, Laurence; Lonlay, P. De; Viot, Géraldine; Dahi, Sidi; Kachaner, J; Münnich, Arnold; Lyonnet, Stanislas; Vekemans, Michel; Bonnet, Damien

doi:10.1007/s004310050959

Cited by 96 publications

(73 citation statements)

References 17 publications

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“…There are several studies on the prevalence of individual chromosomal abnormalities, like 22q11.2 deletions [31][32][33] (velocardiofacial and DiGeorge syndromes are due to 22q11.2 deletions). Borgmann et al 31 found that routine screening for 22q11.2 deletions in nonsyndromic CHD subjects gave no yield.…”

Section: Discussionmentioning

confidence: 99%

Ocular pathology in congenital heart disease

Mansour

Bitar

Traboulsi

et al. 2004

Eye

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Section: Discussionmentioning

confidence: 99%

Ocular pathology in congenital heart disease

Mansour

Bitar

Traboulsi

et al. 2004

Eye

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“…[53][54][55] Children with double-outlet right ventricle or transposition of the great arteries are rarely found to have a 22q11 deletion (Table 1). 51,[55][56][57][58][59][60][61][62] It is important to identify the cardiac patient with a 22q11 deletion by FISH testing to evaluate for associated noncardiac features of the syndrome in a timely fashion and to offer accurate genetic counseling. Additionally, a higher operative mortality in some individuals with a 22q11 deletion has been documented, 63,64 and the clinician and surgeon should be aware of this when planning surgery and postoperative care, particularly as related to calcium metabolism or immunologic issues.…”

Section: Loci and Genes Associated With Congenital Heart Defects Idenmentioning

confidence: 99%

Genetic Basis for Congenital Heart Defects: Current Knowledge

Pierpont¹,

Basson²,

Benson³

et al. 2007

Circulation

740

377

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Abstract-The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease. (Circulation. 2007;115:3015-3038.)

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“…Conotruncal heart defects account for approximately 50 -60% of cardiac malformations diagnosed in the neonatal period (Iserin et al, 1998) and are associated with significantly high morbidity and mortality (Ferencz et al, 1985;Ferencz, 1990). This category includes defects such as truncus arteriosus (TA), double outlet right ventricle (DORV), tetralogy of Fallot (TOF) with or without pulmonary atresia, and interrupted aortic arch (IAA).…”

Section: Introductionmentioning

confidence: 99%

Temporal–spatial ablation of neural crest in the mouse results in cardiovascular defects

Porras

Brown

2007

Developmental Dynamics

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Neural crest cells are thought to play a critical role in human conotruncal morphogenesis and dysmorphogenesis. Much of our understanding of the contribution of neural crest to cardiovascular patterning comes from ablation and transplantation experiments in avian species. Although fate mapping experiments in mice suggests a conservation of function, the functional requirement for neural crest in cardiovascular development in mammals has not been formally tested. We used a novel two component genetic system for the temporal-spatial ablation of neural crest in the mouse. Affected embryos displayed a spectrum of cardiovascular outflow tract defects and aortic arch patterning abnormalities. We show that the severity of the cardiovascular phenotype is directly related to the level and extent of neural crest ablation. This is the first report of cardiac neural crest ablation in mammals, and it provides important insight into the role of the mammalian neural crest during cardiovascular development. Developmental Dynamics 237:153-162, 2008.

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Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

Abstract: In 50/104 newborns with conotruncal defects, an interstitial deletion 22q11 was found. Fluorescence in Situ Hybridization should be performed in newborn infants with conotruncal defect and at least one additional manifestation of the CATCH22 phenotype.

Cited by 96 publications

References 17 publications

Ocular pathology in congenital heart disease

Ocular pathology in congenital heart disease

Genetic Basis for Congenital Heart Defects: Current Knowledge

Temporal–spatial ablation of neural crest in the mouse results in cardiovascular defects

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