Bita Salamat, Sara B. Stephens, Jolie J. Britt, Taylor Beecroft-Dawson, Andrea Taylor, Laura Muiño Mosquera, Bert Callewaert, Aude Beyens, Alexandra Channing, Michael P. Dilorenzo, Justin Weigand, Benjamin Jacob, Eudice Fontenot, Shaine A. Morris
Texas Children’s Hospital and Baylor College of Medicine. University of Texas Health Science Center. A Twist of Fate. Ghent University Hospital and Ghent University. Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children’s Hospital. University of Arkansas for Medical Sciences.
United States and Belgium
American Jourrnal of Medical Genetics Part A
Am J Med Genet A 2025;
DOI: 10.1002/ajmg.a.64159
Abstract
Arterial tortuosity syndrome (ATS) is an ultra-rare arteriopathy with a cardiovascular phenotype of vascular tortuosity, elongation, dilation, and stenosis. In 14 patients with ATS, aortic and pulmonary artery longitudinal growth, phenotypes, and interventions were evaluated. Medical records and images of 14 patients with ATS (defined as biallelic SLC2A10 variants with consistent phenotypes) were reviewed. Vascular measurements were collected from imaging reports. Z-scores were calculated. Dilation and hypoplasia were defined as z-scores ≥ +2.0 and ≤ -2.0, respectively. Slopes were calculated using mixed linear regression. Our cohort consisted of 9 males (64%). Median diagnosis age was 3.3 years; median follow up duration was 5.7 years. By echocardiography, aortic root dilation was present in 71.4%; branch pulmonary artery (BPA) dimensions were mixed between dilated and hypoplastic. By echocardiography and cross-sectional imaging, aortic and BPA dimensions increased over time but had stable z-scores. Three patients underwent repeated BPA interventions, one patient had an aortopexy, and one patient had an aortic valve replacement. No patients had arterial dissections. Six new variants are described. In conclusion, aortic dilation is usual and persists in ATS with stable z-scores similar to other aortopathies. BPA stenosis is a common complication in ATS leading to invasive vascular procedures.
Category
Segmental Pulmonary Arterial Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: No