{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:34:03Z","timestamp":1786649643741,"version":"build-2736575974"},"reference-count":4,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>Arteriopathies in early childhood present significant diagnostic challenges due to phenotypic overlap between Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and hereditary cutis laxa. We report a 2-year-old male, born of consanguineous parentage, evaluated for persistent cough and hypertension. Clinical features included coarse facies, pectus excavatum, and mild hepatomegaly. Echocardiography revealed a massively dilated ascending aorta (56 mm), aortic annular dilatation, moderate aortic insufficiency, and severe post-subclavian coarctation with marked post-stenotic dilatation. CT angiography demonstrated diffuse tortuosity of thoracic and abdominal aorta with tracheobronchial compression. The constellation of findings strongly suggested arterial tortuosity syndrome (ATS), but confirmation was not feasible due to loss to follow-up. Recognition of such dramatic vascular presentations is essential, as management differs from related disorders. This case highlights the importance of maintaining a high index of suspicion for ATS in young patients with extreme aortic dilatation and diffuse arterial tortuosity.<\/jats:p>","DOI":"10.4103\/apc.apc_116_25","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T18:00:22Z","timestamp":1767722422000},"page":"521-523","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Arteriopathies: Too big to be true"],"prefix":"10.4103","volume":"18","author":[{"given":"Akriti","family":"Gera","sequence":"first","affiliation":[{"name":"Department of Pediatric Cardiology, Medanta Hospital, Gurugram, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Misri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Medanta Hospital, Gurugram, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj","family":"Bajpai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Medanta Hospital, Gurugram, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shefali","family":"Yadav","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Medanta Hospital, Gurugram, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,1,6]]},"reference":[{"key":"R1-20260420","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1038\/gim.2017.253","article-title":"Arterial tortuosity syndrome: 40 new families and literature review","volume":"20","author":"Beyens","year":"2018","journal-title":"Genet Med"},{"key":"R2-20260420","doi-asserted-by":"crossref","first-page":"bcr2016217029","DOI":"10.1136\/bcr-2016-217029","article-title":"Arterial tortuosity syndrome","volume":"2016","author":"Mehrabi","year":"2016","journal-title":"BMJ Case Rep"},{"key":"R3-20260420","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/humu.20623","article-title":"Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families","volume":"29","author":"Callewaert","year":"2008","journal-title":"Hum Mutat"},{"key":"R5-20260420","first-page":"e32899","article-title":"Arterial tortuosity syndrome in a newborn: A case report with literature review","volume":"14","author":"Al-Blushi","year":"2022","journal-title":"Cureus"}],"container-title":["Annals of Pediatric Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/apc.apc_116_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T18:56:25Z","timestamp":1786647385000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/apc.apc_116_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":4,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.4103\/apc.apc_116_25","relation":{},"ISSN":["0974-2069","0974-5149"],"issn-type":[{"value":"0974-2069","type":"print"},{"value":"0974-5149","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"2025-05-10","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-07","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}