Image courtesy www.frontiersin.org
| System ID: | jl-e1f0fb77eb4761cc1f67f469fdfb565b |
|---|---|
| Title: | Frontiers | Distinct patterns of vascular failure in COL1A1-associated osteogenesis imperfecta and FBN1-associated Marfan syndrome |
| Link: | Original article on www.frontiersin.org |
| Region: | global |
| Topics: | fbn1associated; marfan; replacement; vascular; failure; disease; osteogenesis; distinct; patients; patterns; imperfecta; rupture; patient; syndrome; aortic; age; col1a1associated |
| Datetime: | |
| Summary: | We report the longitudinal clinical, imaging, and available histopathologic findings of two genetically confirmed patients with COL1A1-associated osteogenesis imperfecta and FBN1-associated Marfan syndrome who exhibited contrasting vascular courses. Case 2: FBN1-associated Marfan syndrome A 60-year-old woman with clinically diagnosed Marfan syndrome, carrying an FBN1 splice-site variant (c.2677 + 5G > A), presented with a history of extensive aortic disease. Figure 3 Histopathologic findings of the aortic valve in COL1A1- and FBN1-associated disease, and abdominal aorta in COL1A1-associated disease. Figure 4 Histopathologic findings of the thoracic aortic wall in COL1A1-associated osteogenesis imperfecta and FBN1-associated Marfan syndrome. Impact of pathogenic FBN1 variant types on the progression of aortic disease in patients with Marfan syndrome .... |
