VACTERL association is an association characterised by the sporadic, non-random association of specific abnormalities. Each letter stands for a specific abnormality.
- V: Vertebral anomalies
- A: Anal anomalies
- C: Cardiac anomalies
- T-E: Fistula +/- eosophageal atresia anomalies (American Spelling)
- R: Renal or Radius anomalies
- L: Limb anomalies
A person with three or more problems in any combination may be recognized as fitting in the VACTERL Association. However, VACTERL Association is not a diagnosis. There is no one cause for the association of these problems in individuals.
There is a wide range of manifestation of VACTERL association so that the exact incidence within the population is not exactly known. Babies who have been diagnosed as having VACTERL association usually have at least three or more of these individual anomalies.
What are the heart problems seen with VACTERL association?
Up to three-quarters of patients with VACTERL association have been reported to have congenital heart disease. The most common heart defects seen with VACTERL association are ventricular septal defects, atrial septal defects and Tetralogy of Fallot.
Less common defects are truncus arteriosus and transposition of the great arteries. Babies may have a murmur at birth, however absence of a murmur does not rule out congenital heart disease. If a baby is suspected of having features of VACTERL association, consultation with a pediatric cardiologist is recommended.
What other defects are seen with VACTERL association?
Vertebral defects
Vertebral anomalies, or defects of the spinal column, usually consist of small (hypoplastic) vertebrae or hemivertebra where only one half of the bone is formed. About 70 percent of patients with VACTERL association will have vertebral anomalies. In early life these rarely cause any difficulties, although the presence of these defects on a chest x-ray may alert the physician to other defects associated with VACTERL. Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.
Anal defects
Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.
Esophageal defects
Esophageal atresia with tracheo-esophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association, although it can frequently occur as an isolated defect. Fifteen percent to 33 percent of patients with TE fistulas will also have congenital heart disease. However these babies usually have uncomplicated heart defects, like a VSD, which may not require any surgery.
Renal / kidney defects
Renal or kidney defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35 percent of patients with VACTERL association have a single umbilical artery (there are usually two) which can often be associated with kidney or urologic problems. These defects can be severe with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. These problems can cause kidney failure early in life and may require kidney transplant. Many of these problems can be corrected surgically before any damage can occur.
Limb defects
Limb defects occur in up to 70 percent of babies with VACTERL association and include absent or displaced thumbs, extra digits (polydactyly), fusion of digits (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.
Growth
Many babies with VACTERL are born small and have difficulty with gaining weight. Babies with VACTERL association, however, do tend to have normal development and normal intelligence.
What causes VACTERL association?
No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.
What if my baby is diagnosed with VACTERL association?
The important thing is to identify all of the possible associated defects and treat them accordingly. Unless there are several very severe defects, babies with VACTERL association do well and can lead normal productive lives.
Frequently asked questions
If VACTERL Association is not a diagnosis, why label my child with it?
The VACTERL acronym is a tool for physicians. These groupings of problems tend to occur together more often than can be explained by chance. If a physician sees at least two problems that fit within the VACTERL Association, he/she knows to look for other related problems.
Problems that are identified early can often be fixed with surgery or treated with medicines or other therapies before your child has major complications. Therefore, several different specialists may see your child and have several different tests done. Possible diagnoses to explain the associated problems in your child will be explored. However, a specific diagnosis is not identified in the majority of children who have two or more of the associated problems.
What can I expect for my child who has problems that fit within the VACTERL Association?
Children who have VACTERL associated problems may have delayed growth and development in the early years. The majority of children have normal intelligence. The specific needs for each child who has associated problems vary. One child may have heart, kidney and spine problems. Another child may have a missing or unusually formed thumb and a tracheal esophageal fistula.
Comparisons between the two children cannot be made. For this reason, you will need to talk to your child's specialists to know what to expect. Write down questions before you meet with each physician. Make sure he/she answers each question or concern. If you do not understand, say so and ask him/her to repeat what was said in simpler terms.