What is the name of the syndrome that combines tracheoesophageal fistula and Ventricular Septal Defect (VSD)?

VACTERL Association

The syndrome combining tracheoesophageal fistula and ventricular septal defect is VACTERL association (also known as VATER association). 1

Syndrome Definition and Components

VACTERL is an acronym representing a non-random association of congenital birth defects that includes: 1

• V = Vertebral anomalies
• A = Anal atresia
• C = Cardiovascular malformations (including VSD)
• T = Tracheo-esophageal fistula
• E = Esophageal atresia
• R = Renal anomalies
• L = Limb abnormalities

The diagnosis requires the presence of at least 3 of these cardinal features, with tracheoesophageal fistula and cardiac defects (such as VSD) being among the most common components. 1

Cardiac Manifestations in VACTERL

Cardiovascular anomalies occur in 60-77.8% of VACTERL patients, making cardiac defects one of the most frequent components of this association. 1, 2

Common cardiac lesions include: 1

• Ventricular septal defect (VSD)
• Atrial septal defect (ASD)
• Patent ductus arteriosus (PDA)
• Tetralogy of Fallot (TOF)
• Transposition of the great arteries (TGA)

Tracheoesophageal Component

Tracheoesophageal fistula with or without esophageal atresia is present in 44.4-77.8% of VACTERL cases. 2, 3 The most common type is type C esophageal atresia (proximal esophageal atresia with distal tracheoesophageal fistula). 4

Associated airway complications include: 4

• Tracheal diverticula at the site of repaired fistula
• Congenital tracheal stenosis with complete cartilage rings
• Tracheomalacia (37.4-89.2% of EA-TEF patients) 1

Diagnostic Approach

When VACTERL is suspected based on the presence of TEF and VSD, systematically evaluate for: 1, 2

• Vertebral/rib anomalies (present in 68.9-72.2% of cases) - obtain spine radiographs
• Anal atresia (44.4% of cases) - perform careful perineal examination
• Renal anomalies (55.6% of cases) - obtain renal ultrasound
• Limb defects (55.6% of cases), particularly radial ray abnormalities - examine upper extremities carefully
• Single umbilical artery (20% of cases) - review birth records 3

Important Clinical Considerations

Approximately 70% of VACTERL patients have additional non-VACTERL-type defects, expanding beyond the classic acronym. 3 These commonly include:

• Genital defects (23.3%) 3
• Respiratory tract anomalies beyond TEF (13.3%) 3
• Single umbilical artery (20%) 3

The etiology remains largely unknown and is likely heterogeneous, though chromosomal abnormalities should be evaluated. 5, 2 Perform G-banded karyotype and consider array-comparative genomic hybridization, as microdeletions/duplications (particularly at 22q11.2) have been identified in some cases. 6

Neurodevelopmental Implications

The majority of VACTERL patients have normal intelligence, distinguishing this association from many genetic syndromes with cardiac defects. 1 However, developmental concerns may arise from:

• Multiple congenital anomalies affecting function 1
• Prolonged hospitalizations and surgical interventions
• Complications from cardiac surgery if required 1

Management Priorities

Coordinate multidisciplinary care involving pediatric surgery, cardiology, and other subspecialties based on specific defects present. 1 The cardiac lesions require standard management per congenital heart disease guidelines, with VSD closure indicated when there is left ventricular volume overload and Qp:Qs >1.5. 1

For the tracheoesophageal component, maintain high suspicion for recurrent TEF (occurs in 5-14% of cases) if respiratory symptoms persist, and consider combined bronchoscopy and endoscopy for diagnosis. 1