Article
A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections.
Heart and vessels - 1 Mar 2008
Lee Seung-Tae, Kim Jee-Ah, Jang Shin-Yi, Kim Duk-Kyung, Kim Jong-Won, Ki Chang-Seok
Abstract excerpt
A considerable proportion of aortic aneurysms are shown to have genetic backgrounds. The COL3A1 gene, which encodes type III procollagen and causes Ehlers-Danlos syndrome (EDS) type IV, is one of the candidate genes associated with aortic aneurysms. The COL3A1 gene is also associated with cervical artery dissections (CAD) mostly as a part of manifestations of EDS type IV. We describe a 34-year-old Korean woman...
Topics
- Adult
- Aortic Dissection
- Aortic Aneurysm
- Aortography
- Cervical Vertebrae
- Collagen Type III
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Heart Septal Defects, Atrial
- Humans
- Incidental Findings
- Mutation, Missense
- Ovarian Cysts
- Thyroid Diseases
- Tomography, X-Ray Computed