{"doi":"10.1002/ajmg.a.64159","title":"Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY)","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.","journal":"American Journal of Medical Genetics Part A","year":2025,"id":545174,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.5165,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":864955,"name":"Sara B. Stephens","orcid":"0000-0002-2180-2198","position":1,"is_corresponding":false},{"id":1436454,"name":"Jolie J. Britt","orcid":null,"position":2,"is_corresponding":false},{"id":307325,"name":"Taylor Beecroft","orcid":"0000-0003-1616-7764","position":3,"is_corresponding":false},{"id":1436455,"name":"Andrea Taylor","orcid":null,"position":4,"is_corresponding":false},{"id":463168,"name":"Laura Muiño Mosquera","orcid":"0000-0002-3094-7807","position":5,"is_corresponding":false},{"id":323116,"name":"Bert Callewaert","orcid":"0000-0002-9743-4205","position":6,"is_corresponding":false},{"id":1436026,"name":"Aude Beyens","orcid":"0000-0003-0231-6861","position":7,"is_corresponding":false},{"id":920611,"name":"Alexandra Channing","orcid":"0000-0001-9971-8239","position":8,"is_corresponding":false},{"id":891894,"name":"Michael P. DiLorenzo","orcid":"0000-0002-2230-684X","position":9,"is_corresponding":false},{"id":946030,"name":"Justin Weigand","orcid":"0000-0002-0016-8140","position":10,"is_corresponding":false},{"id":1436456,"name":"Bilga Jacob","orcid":null,"position":11,"is_corresponding":false},{"id":1436457,"name":"Eudice Fontenot","orcid":null,"position":12,"is_corresponding":false},{"id":250496,"name":"Shaine A. Morris","orcid":"0000-0002-8056-0934","position":13,"is_corresponding":false},{"id":1436453,"name":"Bita Salamat","orcid":null,"position":0,"is_corresponding":true}],"reference_count":39,"raw_metadata":null,"created_at":"2026-07-19T02:53:23.001995Z","pmid":"40613586","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}