What is VACTERL, VACTERLS or VATER Association?
VACTERL, VACTERLS or VATER association is a group of conditions that happen together.
The acronyms are defined as:
V - vertebrae, bones of the spinal column
A - imperforate anus or anal atresia, or an anus that does not open to the outside of the body
C - cardiac (heart) anomalies
TE - tracheoesophageal fistula, a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube)
R - renal or kidney anomalies
L - limb anomalies (radial agenesis)
S - single umbilical artery
Babies who have been diagnosed as having VACTERL association usually have at least one anomaly in three involved body parts: the limbs, chest, and pelvis/lower abdomen region. And there re usually two or more anomalies in two body parts. There is a wide range of signs of VACTERL association, and the exact number of affected babies is not known. It has been estimated to happen in 1 in 10,000 to 40,000 newborns. It may be hard to know how often VACTERL association happens because different diagnostic criteria are used in different studies.
What Heart Problems are Seen With VACTERL Association?
The most common heart defects seen with VACTERL association are ventricular septal defect (VSD) and atrial septal defects.
Less common defects are hypoplastic left heart syndrome, truncus arteriosus, transposition of the great arteries, patent ductus arteriosus and Tetralogy of Fallot. Babies may have a murmur at birth, but the absence of a murmur does not rule out congenital heart disease. If a baby is suspected of having VACTERL association, consultation with a pediatric cardiologist is recommended.
What Other Defects are Seen with VACTERL Association?
Patients with VACTERL association will have vertebral anomalies. In early life these rarely cause any problems, but the presence of these defects on a chest X-ray may alert the physician to other defects associated with VACTERL.
Vertebral anomalies, or defects of the spinal column, are usually small (hypoplastic) vertebrae, missing vertebrae, or hemivertebra where only one half of the bone is formed. Other defects include fusion of vertebrae, missing ribs, increased number of ribs or rib fusions. Scoliosis (curvature) of the spine may also occur.
Anal atresia or imperforate anus is also seen in patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will need several surgeries to fully reconstruct the intestine and anal canal.
Esophageal atresia (narrowing or malformation of the tube that connects the mouth to the stomach) with a tracheoesophageal fistula (abnormal connection or tunneling of the tube that allows air to enter and exit the lungs) is the most common birth defect in VACTERAL association, but it can often happen as an isolated defect.
Renal or kidney defects are seen in patients with VACTERL association. In addition, patients with VACTERL association have a single umbilical artery (there are usually two), which can often be associated with kidney or urine elimination (urologic) problems.
These defects can be severe with incomplete formation of one or both kidneys, or urologic abnormalities such as obstruction or blockage that does not allow normal flow of urine to exit the body from the kidneys. Severe reflux (or backflow) of urine into the kidneys from the bladder can also happen.
These problems can cause harm to the kidneys, may cause them to fail early in life, and may require a kidney transplant. Many of these problems can be corrected surgically before any damage can occur.
Limb defects happen in babies with VACTERL association and include missing or displaced thumbs, extra digits (extra fingers or toes, known as polydactyly), fusion of digits (abnormal joining of fingers or toes known as syndactyly) and forearm defects.
Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one side of the body tend to have kidney problems on that same side.
Many babies with VACTERL are born small and have difficulty gaining weight. However, they tend to have normal development and intelligence.
What Causes VACTERL Association?
The cause of VACTERL association is not well understood. VACTERL association is a complex condition that may have different causes in different people. No specific genetic or chromosome problem has been identified with VACTERL association. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. Each person is affected differently by VACTERL association. Genetic and environmental influences are being studied.
The developmental abnormalities characteristic of VACTERL association happen before birth. The disruption to normal development that causes VACTERL association likely happens early in fetal development (when the baby is inside the mother’s womb), resulting in birth defects that affect multiple body systems. It is unclear why the characteristics of VACTERL association group together the way they do in affected individuals.
How is VACTERL Association Diagnosed?
There is no available laboratory test for diagnosis. VACTERL association is diagnosed based on the presence of clinical features (physical assessment and other clinical tests). People diagnosed with VACTERL association typically have at least three of the characteristic features described above. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association. Confirming a diagnosis is important, as it can help with the identification of other possible associated medical conditions or diagnoses. Unless there are several very severe defects, babies with VACTERL association do well and can lead normal productive lives with proper support and care.
