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Coarctation of the Aorta with Arterial Tortuosity Syndrome - A Case Report with Cinematic Rendering
George Asafu Adjaye Frimpong1,2, Evans Aboagye1, Elliot Koranteng Tannor3,4
1Spectra Health Imaging and Interventional Radiology, Kumasi, Ghana.
Insights
Coarctation of the aorta with arterial tortuosity syndrome is a rare genetic disorder. Early diagnosis in teenage females presenting with severe hypertension is crucial for effective management and improved outcomes.
Area of Science:
- Cardiovascular Medicine
- Medical Genetics
Background:
- Coarctation of the aorta (CoA) with arterial tortuosity syndrome (ATS) is a rare hereditary condition.
- Characterized by arterial elongation, tortuosity, pulmonary hypertension, pulmonary artery stenosis, and aortic narrowing.
- Overlaps with connective tissue disorders like Williams Beuren, Marfan, and Ehlers Danlos syndromes, necessitating high diagnostic suspicion.
Abstract:
Coarctation of the aorta (CoA) with arterial tortuosity syndrome (ATS) is a rare hereditary condition characterized by elongation and tortuosity of the medium- and large-sized arteries, pulmonary hypertension, pulmonary artery stenosis, and constriction or narrowing of the aorta. Considering the non-specific indications and the overlap of ATS with other disorders of the connective tissue such as Williams Beuren syndrome (elastin), Marfan syndrome (fibrillin-1) and Ehlers Danlos syndrome (Type III collagen), it is vital to keep a high diagnostic suspicion in the analysis of the condition. We therefore report on a rare occurrence of coarctation of the aorta with arterial tortuosity syndrome in a teenage female who initially presented with severe resistant hypertension, providing additional literature to aid in the differential diagnosis of COA with ATS. Cinematic rendering delivered a markedly enhanced view of the condition, allowing for greater accuracy in the diagnosis.
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