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[Arterial tortuosity syndrome in two cases].
Abdullah Erdem1, Nurdan Erol, Cenap Zeybek
1Department of Pediatric Cardiology, Siyami Ersek Cardiovascular Surgery Center, İstanbul, Turkey. drabdullaherdem@hotmail.com
Summary
Arterial tortuosity syndrome (ATS), a rare connective tissue disease, involves arterial elongation and narrowing. This report details two pediatric cases diagnosed via cardiac exams, highlighting diverse vascular manifestations.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Pediatric Cardiology
Background:
- Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive connective tissue disorder.
- It is characterized by arterial elongation, tortuosity, aneurysms, and stenosis in large and medium vessels.
Observation:
- Two pediatric cases of ATS diagnosed during cardiac examinations for murmurs are presented.
- Case 1: An 11-year-old boy with atypical facial features and hyperelasticity presented with pulmonary artery aneurysm and peripheral stenoses.
- Case 2: A 3-month-old infant with similar features showed aortic arch anomalies and pulmonary artery stenosis.
Findings:
- Echocardiography, angiography, and CT angiography revealed aneurysmal dilatation, stenotic lesions, and significant tortuosity in the aorta and pulmonary arteries in both patients.
- Surgical intervention was performed on the pulmonary arterial system in the first case.
Implications:
- These cases underscore the importance of cardiac evaluation in diagnosing ATS, even in young children.
- Early diagnosis and intervention are crucial for managing the complex vascular complications associated with ATS.
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