Association of VACTERL with truncus arteriosus, left-sided aortic arch, hypoplastic pulmonary arteries, and severe radial axis defect

Authors

1 Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal-576104, Udupi district, Karnataka, India.

2 Departments of Paediatrics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

3 Neonatal Intensive Care Unit, Department of Pediatrics, Women and Child Block, Kasturba Hospital, Manipal, India

4 Neonatal Intensive Care Unit, Department of Pediatrics, Women and Child Block, Kasturba Medical College, Madhav Nagar, Manipal University, Manipal, Udupi district, Karnataka, India

Abstract

Background: VACTERL association is usually a sporadic disorder, the possible etiologies of which have been proposed as familial as well as multiple genetic and environmental factors. VACTERL association usually consists of at least three of the core features of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. Vertebral anomalies, cardiac malformations, renal anomalies, and limb malformations have been reported to occur in 60-80%, 40-80%, 50-80%, and 40-50% of the patients, respectively. Among the cardiac anomalies, ventricular septal defect is the most prevalent one. Truncus arteriosus is a rarely associated defect. The radial anomalies are the most classic limb defects with different severity levels (types I-IV). Although radial axis defect usually accompanies this association, complete absence of radius is reported only in one third of the cases.
Case report: In this case study, we reported a neonate having this association consisting of severe cyanotic congenital heart defect (truncus arteriosus) and unilateral type IV radial aplasia.
Conclusion: VACTERL association components can have various new findings.
 

Keywords


1. Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis 2011, 6:56 .

2. Cunningham BK, Hadley DW, Hannoush H, Meltzer AC, Niforatos N, Pineda-Alvarez D, Sachdev V, Warren-Mora N, Solomon BD. Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol 2013; 97(12):792-7.

3. Solomon BD, Pineda-Alvarez DE, Raam MS, Bous SM, Keaton AA, VélezJI, Cummings DA: Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A 2010; 152A:2236-2244.

4. Carli D, Garagnani L, Lando M, Fairplay T, Bernasconi S, Landi A, Percesepe A. VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement. J Pediatr 2014;164(3):458-62. e1-2.

 5. Gupta R, Pandey C, Tripathi S. VACTERL rare association with rare survival pattern. J Indian Coll Cardiol 2015; 5: 80-85.

 6. Volpe P, Paladini D, Marasini M, et al. Common arterial trunk in the fetus: characteristics, associations, and outcome in a multicentre series of 23 cases. Heart 2003; 89(12):1437-41.