Genetic Evidence for Congenital Vascular Disorders in Patients with VACTERL Association

Whole exome sequencing of 21 VACTERL patients identified damaging genetic variants in cardiovascular development genes in every case, supporting a genetic basis for vascular disorders triggering this malformation complex. The study found 39 significant variants across 33 genes, with sibling cases sharing identical variants, suggesting hereditary vascular pathology may underlie VACTERL phenotypes.