VACTERL Flashcards
A newborn is evaluated for failure to pass meconium within 48 hours after birth. Physical examination reveals an imperforate anus. Further evaluation identifies sacral agenesis on imaging, a ventricular septal defect, and a radial aplasia in the left arm. Which of the following diagnostic evaluations is most appropriate next?
A) Echocardiography
B) Voiding cystourethrogram
C) Genetic testing for trisomy 21
D) MRI of the brain and spine
E) Abdominal ultrasound
Answer: A) Echocardiography
Explanation: The presence of multiple anomalies (imperforate anus, sacral agenesis, and limb anomalies) suggests VACTERL association. A systematic approach to evaluating cardiac defects (echocardiography) is critical because cardiac anomalies are a major component of VACTERL. Other evaluations like renal ultrasound may follow, but echocardiography takes precedence in this case due to its potential hemodynamic significance.
A 2-day-old infant presents with frothing at the mouth, choking during feeding, and respiratory distress. Attempts at passing a nasogastric tube are unsuccessful. Imaging shows the tube coiling in the esophagus. What is the most likely associated anomaly?
A) Omphalocele
B) Ventricular septal defect
C) Pulmonary hypoplasia
D) Polydactyly
E) Diaphragmatic hernia
Answer: B) Ventricular septal defect
Explanation: The symptoms are suggestive of tracheoesophageal fistula (TEF), commonly associated with VACTERL. Cardiac defects, particularly ventricular septal defects, are commonly seen in this association. TEF with esophageal atresia is a hallmark of VACTERL.
A 6-year-old boy with a history of imperforate anus repair in infancy presents with scoliosis and recurrent urinary tract infections. Imaging reveals multiple hemivertebrae and a duplex kidney. Which of the following is the most likely explanation for his findings?
A) Congenital scoliosis due to Turner syndrome
B) Spinal cord tethering due to myelomeningocele
C) VACTERL association
D) Marfan syndrome with renal complications
E) Klippel-Feil syndrome
Answer: C) VACTERL association
Explanation: The combination of vertebral anomalies, imperforate anus, and renal anomalies (e.g., duplex kidney) strongly suggests VACTERL association. A duplex kidney, also known as a duplicated collecting system or ureteral duplication, is a congenital condition where a kidney has two ureters instead of one. Recurrent UTIs may be secondary to underlying renal or urologic abnormalities common in this condition.
A 1-day-old infant with an imperforate anus is found to have no anal opening on physical examination. Initial imaging shows normal gas patterns without evidence of bowel perforation. What is the most appropriate next step in management?
A) Immediate colostomy placement
B) Primary repair of the imperforate anus
C) Evaluation for other anomalies in the VACTERL association
D) Nutritional support and discharge with outpatient follow-up
E) Genetic testing for syndromic anomalies
Answer: C) Evaluation for other anomalies in the VACTERL association
Explanation: In the setting of imperforate anus, it is essential to perform a comprehensive workup for other anomalies associated with VACTERL, such as cardiac, renal, and vertebral defects. Immediate surgical intervention (colostomy or repair) depends on the presence of associated anomalies and the infant’s condition.
Which of the following statements best describes the genetic etiology of VACTERL association?
A) It is an autosomal dominant condition linked to mutations in the TBX1 gene.
B) It is associated with chromosomal deletions on chromosome 22q11.2.
C) It has a sporadic occurrence with no single identified genetic cause.
D) It is linked to maternal diabetes during pregnancy.
E) It is caused by mutations in the SHH (Sonic Hedgehog) gene.
Answer: C) It has a sporadic occurrence with no single identified genetic cause.
Explanation: VACTERL association is believed to have a multifactorial or sporadic etiology. While it is associated with maternal diabetes, it is not linked to a specific gene mutation or chromosomal abnormality. This distinguishes it from conditions like DiGeorge syndrome (22q11.2 deletion) or SHH-related anomalies.
What does the acronym VACTERL stand for?
Vertebral defects
Anal atresia
Cardiac defects
Tracheoesophageal fistula
Esophageal atresia
Renal defects
Limb abnormalities
What is the prevalence of VACTERL association in live births?
Approximately 1 in 10,000 live births.
True or False: VACTERL association is a genetic syndrome.
False: VACTERL is not a genetic syndrome but a non-random association of congenital anomalies.
Short answer: What is the primary mechanism believed to cause VACTERL association?
Disruption during early embryonic development.
Which congenital defect is represented by the ‘A’ in VACTERL?
Anal atresia.
Fill in the blank: VACTERL is commonly associated with _____ defects.
vertebral.
Which of the following is NOT a component of VACTERL?
A) Cardiac defects
B) Renal defects
C) Cleft lip
C) Cleft lip.
Short answer: Name one common cardiac defect associated with VACTERL.
Ventricular septal defect (VSD).
True or False: VACTERL association can occur in isolation without other syndromic features.
True.
True or False: VACTERL can be part of other syndromes.
True.
