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Ehlers-Danlos syndrome type IV and multiple aortic aneurysms--a case report
E de Paiva Magalhães1, S R Fernandes, V A Zanardi
1Department of Rheumatology, Medical Sciences School of State University of Campinas, SP, Brazil. eduardo@hc.unicamp.br
Angiology
|March 28, 2001
Summary
Multiple aortic aneurysms can indicate underlying genetic disorders, even without classic symptoms. This case suggests a potential link to type III procollagen gene abnormalities, a cause of vascular Ehlers-Danlos syndrome.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Vascular Surgery
Background:
- Aortic aneurysms are often linked to atherosclerosis but can also stem from systemic diseases like genetic disorders.
- Identifying the underlying cause of aortic aneurysms is crucial for patient management and prognosis.
Observation:
- A 48-year-old man presented with multiple large aneurysms of the aorta and its major branches.
- Physical examination revealed an arterial murmur and a palpable abdominal mass.
- Imaging confirmed extensive aneurysms in the thoracic and abdominal aorta, as well as the innominate, left subclavian, and carotid arteries.
Findings:
- The patient's presentation with multiple aortic aneurysms, despite lacking classic Ehlers-Danlos syndrome type IV features, is consistent with previously reported cases.
- Abnormalities in the type III procollagen gene (COL3A1) are associated with such aneurysmal disease.
Implications:
- This case highlights the importance of considering genetic disorders, specifically COL3A1 abnormalities, in patients with multiple aortic aneurysms, even in the absence of typical syndromic features.
- Further genetic investigation may be warranted to confirm the diagnosis and guide long-term management strategies for patients with unexplained, widespread aortic aneurysms.