Congenital anomalies of the chest are an important cause of morbidity in infants, children, and even adults. The evaluation of affected patients frequently requires multiple imaging modalities to d...

Congenital anomalies of the tracheobronchial tree, lung, and mediastinum: embryology, radiology, and pathology.

VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or laboratory-based evidence for the presence of one of the many similar conditions, as the differential diagnosis is relatively large. This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus. Though there are hints regarding causation, the aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. New genetic research methods offer promise that the causes of VACTERL association will be better defined in the relatively near future. Antenatal diagnosis can be challenging, as certain component features can be difficult to ascertain prior to birth. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive, though some patients will continue to be affected by their congenital malformations throughout life. Importantly, patients with VACTERL association do not tend to have neurocognitive impairment.

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VACTERL/VATER Association

Resorbable bioscaffold for esophageal repair in a dog model

Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases (syndromic oesophageal atresia), there are associated anomalies, with cardiac malformations being the most common. In the remainder (non-syndromic cases), oesophageal atresia/tracheo-oesophageal fistula occur in isolation. Data from twin and family studies suggest that genetic factors do not play a major role, and yet there are well-defined instances of this malformation where genetic factors clearly are important. This is highlighted by the recent identification of no fewer than three separate genes with a role in the aetiology of oesophageal atresia: those for Feingold syndrome (N-MYC), anophthalmia-oesophageal-genital (AEG) syndrome (SOX2), and CHARGE syndrome (CHD7). Additional support for genetic factors in this malformation comes from chromosomal studies and mouse models. This paper reviews current knowledge of the genetics and epidemiology of the different oesophageal atresia/tracheo-oesophageal fistula syndromes and associations.

https://jmg.bmj.com/content/jmedgenet/43/7/545.full.pdf

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

All players in Swedish soccer teams are required to have insurance in the same company. From the archives of the insurance company, all 3,735 injuries reported in 1986 in 188,152 Swedish soccer players were reviewed. Of these, 937 were knee injuries. All players were asked by mail to fill in a questionnaire and 83 percent replied. The patient records from the different hospitals were requested. The anterior cruciate injuries represented one third of the reported knee injuries.The relative risk of sustaining an anterior cruciate ligament Injury was increased in female players, in elite players, and in players in the forward position. The odds ratios were 1.6 (1.3-2.1), 3.3 (1.7-6.1) and 1.8 (1.4-2.5), respectively. The injuries occurred at a younger age in females than in males. 50 percent of the injured players were treated with anterior cruciate ligament surgery, predominantly as a reconstructive procedure, with use of a patellar tendon transplant. 30 (20) percent of the players with anterior cruciate li...

https://www.tandfonline.com/doi/pdf/10.3109/17453679508995501

Soccer after anterior cruciate ligament injury— an incompatible combination? A national survey of incidence and risk factors and a 7-year follow-up of 310 players

The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported to the combined registry of infants with multiple congenital anomalies from 17 birth defects registries worldwide that are part of the International Clearinghouse for Birth Defects Monitoring Systems (ICB-DMS). Among approximately 10 million infants born from 1983 through 1991, the ICB-DMS registered 2,295 infants with 3 or more of 25 unrelated major congenital anomalies of unknown cause. Of these infants, 286 had the VATER association, defined as at least three of the five VATER anomalies (vertebral defects, anal atresia, esophageal atresia, renal defects, and radial-ray limb deficiency), when we expected 219 (P<0.001). Of these 286 infants, 51 had at least four VATER anomalies, and 8 had all five anomalies. We found that preaxial but not other limb anomalies were significantly associated with any combination of the four nonlimb VATER anomalies (P<0.001). Of the 286 infants with VATER association, 214 (74.8%) had additional defects. Genital defects, cardiovascular anomalies, and small intestinal atresias were positively associated with VATER association (P<0.001). Infants with VATER association that included both renal anomalies and anorectal atresia were significantly more likely to have genital defects. Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, oral clefts, bladder exstrophy, omphalocele, and neural tube defects. These results offer evidence for the specificity of the VATER association, suggest the existence of distinct subsets within the association, and raise the question of a common pathway for patterns of VATER and other types of defects in at least a subset of infants with multiple congenital anomalies.

The spectrum of congenital anomalies of the VATER association: An international study

From 1970 to 1985, the total number of hospital admissions in Finland increased by 36 per cent, the number of admissions due to musculoskeletal disorders by 121 percent, and the admissions due to trauma by 38 percent. The combined share of musculoskeletal disorders and trauma in hospitals will grow to an estimated 18 percent of all the admissions by the year 2000. Of all the early pensions granted by the Social Insurance Institution, the share of musculoskeletal disorders as the main cause increased from 16 percent in 1970 to 25 percent in 1985.

Orthopedic diseases and trauma in Finland. Trends in consumption of health services 1970-1985.

Notification of congenital malformations detected during the first year of life has been compulsory in Finland since 1963. The reports on defects detected in liveborn infants are completed by information from death certificates for all deceased children and stillborn from the 28th week of gestation. Towards the end of 1984 22 105 malformed cases have been reported from 1.5 million births. This gives the incidence of 1.5 per 10 000 births.

Anneli Ruusinen

Papers

The spectrum of congenital anomalies of the VATER association: An international study

Orthopedic diseases and trauma in Finland. Trends in consumption of health services 1970-1985.

Congenital Malformations — Information System and its Use