Cardiac, Renal and Gastrointestinal Anomalies in a Neonate: Could this be VACTERL Association? A Case Report

Main Article Content

Urire Idholo
Chika O. Duru
Ofure Okosun
Imaculata I. Tunde- Oremodu
Stanley Ogoinja

Abstract

Introduction: VACTERL association is a rare congenital defect. It is a constellation of the involvement of six systems which comprise of vertebral defects, anal atresia, cardiac defects, trachea-oesophageal fistula, renal anomalies and limb abnormalities.  At least three systems should be involved before VACTERL is suspected and in many cases, it is difficult to differentiate it from other multiple congenital anomalies.

Case Report: We present a day old preterm neonate who presented with respiratory distress and abdominal distension at birth. Late pregnancy ultrasound done at 34 weeks gestation showed a singleton fetus with gross ascites, dilated urinary bladder and bilateral calyceal dilatation. On examination, he had hyper-plantar flexion of the left ankle joint, ascites and a loud systolic murmur. Abdominal scan showed bilateral renal stones with medullary sponge kidneys, gaseous distension of the bowels and massive ascites. Transthoracic echocardiography showed a 10 mm ostium secundum atrial septal defect, 6 mm perimembranous ventricular septal defect and a 3 mm patent ductus arteriosus. Micturating cystourography showed a dilated posterior urethra with an appearance of a ring lucent filling defect at the membranous urethra and an irregular and beading distal urethra which was suggestive of posterior urethral valves (diaphragmatic type).

Conclusion: VACTERL association occurs sporadically in most cases and presentation is varied depending on the degree of systemic affectation. Our patient presented with a constellation of congenital defects which could all fit into the criteria for VACTERL association, however because of the lack of genetic testing, it is difficult to determine if this is just a chance occurrence of multiple congenital anomalies.

Keywords:
VACTERL association, renal anomalies, cardiac anomalies, gastrointestinal anomalies.

Article Details

How to Cite
Idholo, U., Duru, C. O., Okosun, O., Oremodu, I. I. T.-, & Ogoinja, S. (2020). Cardiac, Renal and Gastrointestinal Anomalies in a Neonate: Could this be VACTERL Association? A Case Report. Cardiology and Angiology: An International Journal, 9(4), 15-19. https://doi.org/10.9734/ca/2020/v9i430141
Section
Case Study

References

Solomon B. VACTERYL/VATER association. Orphanet J Rare Dis. 2011; 6: 56.

Chen Y, Liu Z, Chen J, Zuo Y, Liu S, Chen W, et al. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J Med Genet. 2016;53: 431-437.

Knowles S, Thomas RM, Lindenbaum RH, Keeling JW, Winter RM. Pulmonary agenesis as part of the VACTERL Sequence. Arch Dis Child. 1988;63:723- 726.

Solomon BD, Bear KA, Kimonis V, Klein A, Scott DA, Shaw-Smith C, et al. Clinical geneticists’ view of VACTERL/VATER Association. Am J Med Genet A. 2012; 158A:3087-3100.

Bhagat M. VACTERL association-type anomalies in a male neonate with a Y-Chromosome abnormality. Oxford Medical Case Reports. 2015;164-166.

Reutter H, Hilger AC, Hildebrandt F, Ludwig M. Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype. Pediatr Nephrol. 2016;31: 2025-2033.

Tentamy SA, Miller JD. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr. 1974; 85:345-349.

Baumann W, Greinacher I, Emmrich P, Spranger J. Vater or VACTERYL syndrome. Klin Pediatr. 1976;188:328-337.

van de Putte R, van Rooij IA, Marcelis CLM, Guo M, Brunner HG, Addor M. et al. Spectrum of congenital anomalies among VACTERL cases: A EUROCAT population-based study. Paediatric Research. 2020; 87(3):541-549.

Fujishiro E, Suzuki Y, Sato T, Kondo S, Miyachi M, Suzumori K. Characteristic findings for diagnosis of baby complicated with both the VACTERL association and duodenal atresia. Fetal Diagn Ther. 2004; 19:134-137.

Kawana T, Ikeda K, Nakagawara A, Kajiwara M, Fukazawa M, Hara K. A case of VACTEL syndrome with antenatally diagnosed duodenal atresia. J Pediatr Surg. 1989;24:1158-1160.

Cunningham BK, Khromykh A, Martinez AF, Cainey T, Hadley DW, Solomon BD. Analysis of renal anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratlol. 2014;100:801-805.

Cunningham BL, Hadley DW, Hannoush H, Meltzer AC, Niforatus N, Pineda- Alvarez D, et al. Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol. 2013;97: 792-797.

Padma S, Sundaram PS, Sonik B. A case of VACTERL and non-VACTERL association without the “V” and “L”. Indian J Nucl Med. 2014;29:46-49.

Mortazavi SM, Memari M, Ahmadi H, Abed Z. Two cases of VACTERL association in pregnancy with lymphocyte therapy.

Available:https://publications.waset.org/1000535/two-cases-of-vacterl-association-in-pregnancy-with-lymphocyte-therapy