Analysis of cardiac anomalies in VACTERL association

Birth Defects Research. Part A, Clinical and Molecular Teratology
Bridget K CunninghamBenjamin D Solomon

Abstract

Congenital heart disease (CHD) is estimated to affect between 3 and 5% of all newborns. Extra-cardiac malformations are observed in 7 to 50% of patients with CHD. One relatively well-known association that can occur in the context of CHD is VACTERL. Controversy still remains regarding the definition of VATER association and its expansion to VACTERL, the appropriate diagnostic criteria and the overall incidence. We conducted a description of a case series to characterize the cardiac findings present in a cohort of patients meeting the criteria for VACTERL association. Forty-six of 220 were eligible for inclusion into the study, 67% (31 of 46) had CHD. The most common CHD was ventricular septal defect, present in 18 of 31 patients (58%). There was no statistically significant association between CHD severity and the presence or absence of other VACTERL component features, specifically anorectal malformation (p = 0.18) or tracheo-esophageal fistula (p = 0.72). CHD presence also did not correlate with the presence of tracheo-esophageal fistula or anorectal malformation. Although this study does not, by design, provide further evidence toward the questions of whether CHD is a defining feature of VACTERL association, the frequency of...Continue Reading

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Citations

Sep 9, 2015·Cardiology in the Young·Benjamin J LandisRobert B Hinton
Jul 16, 2015·American Journal of Medical Genetics. Part a·Mark Lubinsky
Jul 3, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Yuri A ZarateR Thomas Collins
May 16, 2019·Prenatal Diagnosis·Florencia PetracchiLouise Wilkins-Haug

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Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

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