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Updated: Jan 22, 2026

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Published on: August 24, 2019
Thoracic aortic aneurysm in a patient with tuberous sclerosis
Martin Andreas Geiger1, Alex Aparecido Cantador1, Ana Terezinha Guillaumon1
1Universidade Estadual de Campinas - UNICAMP, Departamento de Cirurgia, Disciplina de Moléstias Vasculares, Campinas, SP, Brasil.
Tuberous sclerosis, a genetic disorder, can lead to aortic aneurysms. This case highlights successful endovascular treatment for a young patient with a thoracic aortic aneurysm and tuberous sclerosis.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Pediatric Cardiology
Background:
- Tuberous sclerosis is an autosomal dominant genetic disorder.
- Classic symptoms include epilepsy, intellectual disability, and facial angiofibromas.
- Aortic aneurysms are a known, albeit less common, complication in tuberous sclerosis patients.
Observation:
- A young patient with diagnosed tuberous sclerosis presented with a saccular thoracic aortic aneurysm.
- The aneurysm was identified in a patient ranging from infancy to young adulthood.
Findings:
- The patient with tuberous sclerosis and thoracic aortic aneurysm underwent successful endovascular treatment.
- This approach proved effective in managing the aortic complication.
Implications:
- This case demonstrates the feasibility of endovascular repair for aortic aneurysms in young tuberous sclerosis patients.
- Early detection and intervention are crucial for managing vascular complications in tuberous sclerosis.
- Endovascular treatment offers a minimally invasive option for this patient population.
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