Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

Clinical Dysmorphology
Pasquale VergaraB Marino

Abstract

Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricular canal defect tetralogy of Fallot. All children underwent complete cardiovascular, clinical phenotypic and genetic evaluation. A genetic syndrome or extracardiac anomalies were found in 56 patients (87.5%). Down syndrome (43 patients, 67.2%) was the most frequent genetic diagnosis. Other syndromes were 8p deletion, trisomy 13, duplication 5p, cranio-cerebello-cardiac syndrome, Cantrell syndrome, CHARGE association, VACTERL association, and DiGeorge syndrome related to maternal diabetes. No patients in our series had 22q11 deletion. Tetralogy of Fallot with extreme dextroposition of the aorta was found in seven patients (only one with Down syndrome). Additional cardiac malformations were present in 23 patients (only 11 with Down syndrome). The association between atrioventricular canal defect and tetralogy of Fallot represents a cardiac phenotype with strong genetic characteristics. For this reason, a careful gene...Continue Reading

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Citations

Feb 27, 2013·Journal of Paediatrics and Child Health·Monica TanSwee Chye Quek
Dec 15, 2012·American Journal of Medical Genetics. Part a·F GuimiotA Azancot
Mar 24, 2009·Archives of Cardiovascular Diseases·Fanny BajolleDamien Bonnet
Aug 1, 2007·Journal of Clinical Ultrasound : JCU·Jeng-Hsiu HungChia-Yi Selena Hung
May 15, 2020·Italian Journal of Pediatrics·Flaminia PugnaloniPaolo Versacci
May 21, 2020·The Canadian Journal of Cardiology·Susan M Armstrong, Michael A Seidman

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