The VACTERL association is a complex of various malformations that can be attributed to developmental disorders caused by external factors. In many cases the defects are incompatible with life and the children are stillborn. The milder form of VACTERL is mainly treated surgically.
What is a VACTERL Association?
The malformation syndromes in newborns are an extraordinarily broad group of diseases, which usually consists of a symptomatic combination of various malformations. Such a combination of different malformations is the VACTERL association. This term is an acronym. The V stands for vertebral anomalies, which correspond to malformations of the spine.
The A refers to the anal and auricular malformations of the patient, which usually correspond to an occlusion of the rectum. The C stands for the heart defect in the sense of a ventricular septum defect that can occur as part of the syndrome. The T is associated with the tracheo-oesophageal fistulas, which create a connection between the trachea and the esophagus of those affected.
The E refers to the esophageal atresia and thus to an esophageal obstruction.The renal malformations of the kidneys are abbreviated with the R and the L stands for limb malformations, i.e. malformations of the limbs. The term becomes synonymous with the acronym VACTERL association FATHER Syndrome utilized. A little over ten percent of all stillbirths are associated with the VACTERL association.
causes
A prevalence of around one case in 5000 births is given for the VACTERL association. The affected children usually do not have all of the malformations mentioned at the same time. If three of the malformations are present, the VACTERL association is already being mentioned. The symptom complex arises from embryonic development disorders.
In around 90 percent of the cases, the malformations affect male children. The risk of recurrence for each subsequent pregnancy of affected parents is less than one percent. The possible inheritance apparently takes place in an autosomal recessive mode of inheritance. If the brain is also affected by malformations, it appears to be an X-linked recessive inheritance. VACTERL appears to be entirely sporadic in the majority of cases.
Instead of genetic factors, exogenous factors are increasingly assumed to be the cause of developmental disorders. According to speculation, a mother's diabetes mellitus, for example, can disrupt the differentiation of the mesenchymal connective tissue up to the 30th day of development.
Symptoms, ailments & signs
Newborns with a VACTERL association suffer from at least three of the characteristic malformations. These malformations include vertebral anomalies in around 80 percent of cases, which are often associated with rib anomalies. Up to 90 percent of patients also have an imperforate anus or anal atresia.
Between 40 and 80 percent also have a heart defect and roughly the same proportion are affected by tracheo-oesophageal fistulas, which are usually associated with oesophageal atresia. Kidney malformations such as the failure of a kidney, the horseshoe kidney or the cystic and dysplastic kidney occur in 50 to 80 percent of cases.
Approximately half of all those affected have malformations of the limbs. Classically, the defects of the extremities correspond to radial malformations such as thumb aplasia or hypoplasia. The malformations and their combination are the key components of the association. However, many patients also have other malformations, such as brain defects.
Diagnosis & course of disease
When diagnosing the VACTERL association, the doctor must use differential diagnosis to rule out many other malformation syndromes, such as trisomy 18, 18 and the Potter sequence. Depending on the malformations present, this can be a difficult task. Under certain circumstances, the anamnesis and knowledge of existing or non-existing familial dispositions for clinically similar hereditary diseases can help in the differential diagnosis.
A prenatal diagnosis via sonography is a rather rare circumstance for the VACTERL association. Despite the possibility of prenatal amniocentesis with karyogram or FISH, the diagnosis is usually made postnatally via visual examination, sonography, echocardiography or an EKG, EEG and an X-ray examination. Extensive tests of the senses are also part of postnatal diagnostics. The prognosis for the patient varies depending on the malformations in the individual case. While some malformations are associated with a lethal course, others can be combined with life.
Complications
In the VACTERL association, patients suffer from a number of different malformations and malformations. These have a very negative effect on the quality of life of the person affected and reduce it enormously. Most patients are therefore always dependent on the help of other people in their lives and can no longer cope with everyday life on their own. The lack of a kidney can also lead to considerable discomfort and, in the worst case, lead to death of the person concerned.
Furthermore, malformations also occur in the fingers or hands, which can make everyday life difficult for the patient. Furthermore, the VACTERL association can also lead to defects in the brain, so that most of those affected are mentally handicapped and suffer from significantly reduced intelligence. The parents and relatives are also affected by psychological complaints due to the VACTERL association and often suffer from severe depression.
Since only the symptoms of the VACTERL association can be treated, no further complications arise. With the help of medication and various therapies, some of the symptoms can be limited. However, those affected depend on treatment for their entire life. The disease may also reduce the patient's life expectancy.
When should you go to the doctor?
With the VACTERL association, the affected person is usually always dependent on a visit to a doctor, as this disease cannot cure independently. The earlier a doctor is consulted, the better the further course is usually, so that a doctor should be contacted as soon as the first symptoms or signs of the disease appear. If the parents or the patient wish to have children, genetic counseling can also be carried out to prevent the VACTERL association from occurring again.
A doctor should be contacted for this disease if the person concerned suffers from analtresia. In most cases, fistulas appear in the area of the anus. Furthermore, heart problems can also indicate the disease, with those affected also suffering from congenital malformations of the extremities. A missing kidney can also indicate this disease.
The diagnosis of the VACTERL association is made by a pediatrician or a general practitioner. Whether and how the disease can be treated depends to a large extent on the severity of the symptoms, so that a general prediction is usually not possible. In some cases, the VACTERL association also reduces the person's life expectancy.
Therapy & Treatment
Causal therapy is not available for patients with the ACTERL association. There will be no causal therapy in the near future either, since the malformation complex is not due to genetic, but to external factors. However, once these factors are known, it may be possible to prevent the complex. The treatment of the patient is purely symptomatic.
Since the symptoms are malformations, the treatment consists primarily of surgical interventions to correct the malformation. Treatment planning is critical and depends heavily on the general constitution of the newborn. Above all, deformities of the heart and symptoms such as esophageal atresia must be treated surgically as quickly as possible in order to increase the patient's chances of survival.
If there are several severe malformations of critical quality and if the patient's general constitution is poor, early correction is often not possible. In such cases, the parents of those affected receive supportive treatment as part of psychotherapeutic accompaniment. The defects of the limbs, the spine and the intestines are in many cases the easiest to correct.
prevention
Genetic counseling should always be carried out if the VACTERL association is suspected. No other preventive measures are available, as the external factors responsible for the development of the disease are not yet known in detail.
Aftercare
Since a VACTERL association is not fundamentally curable or treatable, but only the individual malformations of the bones, anus, heart, esophagus, kidneys and limbs resulting from the VACTERL association can be treated, the follow-up treatment is also based on the VACTERL Association resulted in malformations.
If there are malformations of the limbs, aftercare treatment for those affected should be geared towards learning to live with the resulting physical disability. If necessary, lifelong care may be necessary here. Psychotherapy can also help to live with the disability.
If there were heart and / or kidney defects, lifelong close-knit medical follow-up care must be provided in order to be able to identify and treat organ problems at an early stage. In addition to regular monitoring of the organ values in the blood, this should also include regular imaging (ultrasound, MRI, CT) of the kidneys and heart.
If there were malformations of the anus and / or esophagus, both must also be regularly examined by a doctor in order to identify potential secondary diseases at an early stage and to be able to take countermeasures. In the case of a congenital fistula between the esophagus and trachea, regular imaging (CT, MRT) of the area should also be carried out in order to identify and treat the development of a new fistula or complications at the scarred area at an early stage in the course of growth.
You can do that yourself
The VACTERL association is treated symptomatically. Therapy and accompanying measures are based on the respective malformations. The child must be spared after surgery. General measures such as rest, comprehensive wound care and regular consultation with the doctor apply. If the child has a cleft lip and palate, the affected child must do speech therapy training. Breathing training may be necessary with choanal atresia.
Due to the large number of malformations, physical limitations always remain. Often life has to be fully adapted to the child's disease. This includes a handicapped-accessible apartment as well as accompanying therapy. The child can be informed about their illness at an early stage. This often leads to a better understanding of the disease, which also improves the prospect of a happy life.
Lastly, children suffering from the VACTERL association should be constantly monitored. This is necessary because of the high risk of accidents and falls that patients are exposed to due to the malformations. Although the disease can only be treated symptomatically, suitable accompanying therapy can enable the children to live a relatively symptom-free life without major restrictions in everyday life.
