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A Population Study of the VACTERL Association: Evidence for Its Etiologic Heterogeneity
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1983
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Molecular EpidemiologyGeneticsGenetic EpidemiologyPathologyCongenital Heart AnomalyChromosomal AnomaliesDefectsPathogen TransmissionVacterl AssociationVaginitisCongenital DisordersCongenital Heart DefectInfection ControlChronic Kidney DiseaseHealth SciencesPopulation StudyEpidemiologyDevelopmental AnomalyUrologyEtiologic HeterogeneityGenetic DisorderPathogenesisVentricular Septal DefectMedicineNephrology
The study used population‑based data to investigate the interrelation of the six defects that comprise the VACTERL association. Data from the Metropolitan Atlanta Congenital Defects Program were analyzed to examine how the six VACTERL defects interrelate. The analysis identified 400 cases with two or more VACTERL defects (vs 29 expected) and 76 cases with three or more (vs <1 expected), with 7 having known causes, 19 having recognized phenotypes, and 50 remaining, where ventricular septal defect and renal agenesis were each present in 30% of cases and limb defects were most often reduction deformities (34%) or polydactyly (20%); these findings confirm that VACTERL is a nonrandom, spectrum of combinations linked to defective mesodermal development rather than a distinct entity.
Using the population-based data from the Metropolitan Atlanta Congenital Defects Program, the interrelation of the six defects that are components of the VACTERL association were investigated. There were 400 cases with two or more of these defects, whereas only 29 cases would be expected if the defects had occurred together randomly. There were 76 cases with three or more defects, whereas less than one case was expected. Of these 76 cases, seven had recognized causes (five chromosomal anomalies, two single-gene disorders); another 19 had recognized clinical phenotypes or syndromes of unknown etiology. In the remaining 50 cases, ventricular septal defect was the most common cardiovascular defect (30.0%), and renal agenesis was the most common renal anomaly (30%). Their most common limb defects were reduction deformities (34%) and polydactyly (20%). This study confirms the clinically recognized nonrandom occurrence of the VACTERL association. It also shows that the association is a spectrum of various combinations of its components, which can be a manifestation of several recognized disorders, rather than a distinct anatomic or etiologic entity. A common denominator of the VACTERL association is suggested to be a defective mesodermal development during embryogenesis, due to a variety of causes and leading to overlapping manifestations.