Heart & vascular pathology
Congenital anomalies
VACTERL association
Author: Erdener Özer, M.D., Ph.D.
Last author update: 1 October 2016
Last staff update: 17 February 2020
Copyright: 2016-2024, PathologyOutlines.com, Inc.
PubMed Search: VACTERL
Table of Contents
Definition / general | Essential features | Epidemiology | Pathophysiology | Etiology | Clinical features | Diagnosis | Prognostic factors | Treatment | Differential diagnosis | Additional referencesCite this page: Özer E. VACTERL association. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/syndromesvacterl.html. Accessed December 18th, 2024.
Definition / general
- Refers to the co-occurrence of birth defects including Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula or Esophageal atresia, Renal or radial anomalies and Limb defects
- Called an association rather than a syndrome because the defects are not pathogenetically related and tend to occur in a non random manner
- Linda Quan and David Smith first described VATER association, including only Vertebral, Anal, TracheoEsophageal features and Radial dysplasia in 1972; years later, when it was found that cardiac and renal abnormalities were common in the association, the acronym was changed to VACTERL (J Med Genet 2006;43:545)
Essential features
- Typically defined by the presence of at least three of the congenital malformations at below: (Orphanet J Rare Dis 2011;6:56)
- Vertebral anomalies
- Anal atresia
- Cardiac defects
- Tracheoesophageal fistula
- Esophageal atresia
- Renal or radial anomalies
- Limb defects
Epidemiology
- Most cases are sporadic; however, some families have several involved members
- The incidence is approximately 1 in 10,000 to 40,000 live born infants (Orphanet J Rare Dis 2011;6:56)
- Seen more frequently in infants born to diabetic mothers
- Associated with chromosomal defects such as Trisomy 18
Pathophysiology
- VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm
Etiology
- In general, the etiology of "associations" is not defined
- No specific genetic or chromosome problem has been identified with this association, and it is most likely caused by multiple factors (Am J Med Genet 2002;110:320)
Clinical features
- Vertebral anomalies usually consist of hypoplastic vertebra or hemivertebra (80% of patients)
- Anal atresia or imperforate anus (55%)
- Congenital heart disease including ventricular septal defect, atrial septal defects and tetralogy of Fallot (up to 75%)
- Esophageal atresia with tracheoesophageal fistula (70%)
- Renal defects including incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine or severe reflux (50%)
- Limb defects include a displaced or hypoplastic thumb, polydactyly, syndactyly and forearm defects such as radial aplasia (70%)
- In addition, up to 35% of patients have a single umbilical artery
- Features secondary to VACTERL components include ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, intestinal and respiratory anomalies and oligohydramnios sequence defects
Diagnosis
- Based upon complete physical exam and a variety of specialized tests for its major and minor features
Prognostic factors
- Some affected infants do not survive
- Many babies with VACTERL are born small and have difficulty gaining weight, but they do tend to have normal development and normal intelligence
- Later in life, vertebral abnormalities may put the child at risk for developing scoliosis
- Renal problems can cause kidney failure early in life and may require kidney transplant
Treatment
- Many problems can be corrected surgically before any damage can occur
Differential diagnosis
- CHARGE syndrome
- Deletion 22q11.2 syndrome
- Fanconi anemia
- MURCS association
- Oculo-auriculo-vertebral syndrome
- Opitz G / BBB syndrome
- Pallister-Hall syndrome
- VACTERL with hydrocephalus
Additional references
