A rare constellation of findings in VACTERL association

Abstract

VACTERL (Vertebrae, anus, cardiac system, tracheo-esophageal fistula, renal system, and limbs) association is a heterogeneous constellation of congenital anomalies involving at least three of six characteristic components: vertebral, anorectal, cardiac, tracheo-esophageal, renal, and limb defects. We report a rare presentation in a 3-year-old girl who exhibited anorectal malformation, vertebral scoliosis, and complex cardiac abnormalities, including dextrocardia, bilateral superior vena cavae, and patent ductus arteriosus. She presented with chronic cough, recurrent respiratory infections, and wheezing. Clinical examination and imaging confirmed the anomalies, and echocardiography further delineated her cardiac defects. The constellation of findings met diagnostic criteria for VACTERL association. She improved with medical management and continues under multidisciplinary follow-up. This case highlights the wide phenotypic variability of VACTERL and underscores the importance of comprehensive systemic evaluation, especially when atypical cardiac or laterality abnormalities are present. Early recognition and coordinated long-term care are essential to optimize outcomes and identify additional anomalies that may emerge over time.