SUPERStudy: VACTERL Association 

By usmlevideoss

Introduction

VACTERL association is a nonrandom constellation of congenital anomalies involving multiple organ systems. The acronym stands for:

  • V: Vertebral anomalies
  • A: Anal atresia
  • C: Cardiac defects
  • T: Tracheoesophageal fistula
  • E: Esophageal atresia
  • R: Renal anomalies
  • L: Limb defects

Patients often present with at least three of these anomalies, without a unifying genetic or environmental cause.

Etiology

  • Unknown origin, though it is thought to result from disruptions during early embryonic development.No monogenic cause for VACTERL has been identified thus far.
  • Likely multifactorial, involving:
    • Environmental factors: Maternal diabetes, certain teratogens (e.g., alcohol, smoking).
    • Genetic factors: Sporadic mutations; rare associations with specific chromosomal abnormalities (e.g., 22q11 deletions).

Epidemiology

  • Incidence: Approximately 1 in 10,000–40,000 live births.
  • No gender or racial predilection.
  • Rare familial cases reported, but most cases are sporadic.

Pathophysiology

The exact mechanism is unknown but is likely related to disruptions in mesodermal development during early embryogenesis. This affects the formation and differentiation of multiple organ systems, leading to the characteristic anomalies.

Clinical Manifestations

  1. Vertebral Anomalies:
    • Hemivertebrae, scoliosis, or fused vertebrae.
  2. Anal Atresia:
    • Imperforate anus, often associated with fistulas to the urinary or genital tract.
  3. Cardiac Defects:
    • Ventricular septal defect (VSD), atrial septal defect (ASD), tetralogy of Fallot.
  4. Tracheoesophageal Fistula (TEF) and Esophageal Atresia (EA):
    • Feeding difficulties, choking, recurrent aspiration.
  5. Renal Anomalies:
    • Unilateral renal agenesis, hydronephrosis, or ectopic kidneys.
  6. Limb Defects:
    • Radial aplasia, polydactyly, syndactyly, or limb shortening.

Diagnosis

  1. Clinical Assessment:
    • Suspect VACTERL association if three or more characteristic anomalies are present.
  2. Imaging and Tests:
    • Spinal X-rays: Identify vertebral anomalies.
    • Echocardiogram: Evaluate cardiac defects.
    • Abdominal ultrasound: Assess renal anomalies.
    • Contrast esophagogram or bronchoscopy: Detect TEF/EA.
    • MRI/CT: Further characterize limb defects or internal anomalies.
  3. Genetic Testing:
    • Rule out chromosomal abnormalities or syndromes that overlap with VACTERL.

Treatment

  1. Multidisciplinary Approach:
    • Requires collaboration among pediatric surgeons, cardiologists, orthopedists, and urologists.
  2. Surgical Interventions:
    • Repair of anal atresia, TEF/EA, and cardiac defects.
    • Corrective surgeries for limb and vertebral anomalies, if symptomatic.
  3. Supportive Care:
    • Nutritional support for feeding difficulties.
    • Physical therapy for limb defects.
    • Management of complications like recurrent UTIs or aspiration pneumonia.
  4. Follow-Up:
    • Lifelong monitoring for growth, development, and potential complications.

SUPERPoint

VACTERL association involves a cluster of congenital anomalies (vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects) likely resulting from disrupted embryonic development, requiring a multidisciplinary approach for diagnosis and management.

SUPERFormula

Infant with vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula/esophageal atresia, renal anomalies, and limb defects + Unknown multifactorial etiology + Diagnosed via clinical assessment, imaging, and genetic testing + Managed with surgical corrections, supportive care, and multidisciplinary follow-up = VACTERL Association

References: 

Kochhar A, Duis J, Saenz M, Meeks NL. Genetics & Dysmorphology. In: Bunik M, Levin MJ, Abzug MJ, Schreiner TL. eds. Current Diagnosis & Treatment: Pediatrics, 27th Edition. McGraw Hill; 2025.

Collin MF. Resuscitation of Neonates. In: Tintinalli JE, Ma O, Yealy DM, Meckler GD, Stapczynski J, Cline DM, Thomas SH. eds. Tintinalli’s Emergency Medicine: A Comprehensive Study Guide, 9e. McGraw-Hill Education; 2020.