Arteriopathies: Too big to be true
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Annals of Pediatric Cardiology
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7118693104