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- W1981656839 abstract "Thoracic aortic aneurysms and dissections can occur in families with autosomal dominant inheritance. Mutations in the fibrillin-1 gene on chromosome 15 cause Marfan syndrome (MFS), a known cause of familial aortic aneurysms and dissections. Affected individuals have phenotypic stigmata involving the skeletal, ophthalmologic and other systems. Mutations in the type III procollagen gene cause the vascular type of Ehlers-Danlos syndrome (EDS IV), which can include aneurysms that involve the aorta and other arteries, but account for a small minority of aortic aneurysms. Affected individuals have characteristic skin and joint findings. Families with no external phenotypic stigmata of connective tissue disorders have been reported as cases of Erdheim disease or annuloaortic ectasia. The causative gene(s) have not yet been identified. We report a family in which aortic aneurysms occurred in several family members who have no phenotypic findings suggestive of either MFS or EDS IV. None of the affected individuals have tall stature, dislocated ocular lenses, scoliosis or pectus deformities. The proband (II-1) was thought to be in good health until she developed chest pain at age 56 and died of a dissecting aneurysm of the ascending aorta that ruptured into the pericardial space. Microscopic examination of the aorta showed cystic medial necrosis. She had 5 children, 3 of whom also had thoracic aortic aneurysms. Her oldest son (III-1) and older daughter (III-4) have had prophylactic surgery at ages 60 and 49. The younger daughter (III-5) had emergency surgery after aortic rupture during catheterization at age 48. A skin biopsy was obtained from the older daughter and dermal fibroblasts explanted. Metabolic labeling studies done in triplicate showed diminished amounts of fibrillin-1 deposited into the matrix by the patient's cells when compared with controls. A similar defect in fibrillin-1 incorporation is observed in cells from MFS patients. Linkage and mutation studies are in progress to determine if the phenotype is due to a FBN1 mutation or a mutation in another gene that disrupts fibrillin-1 deposition in the matrix." @default.
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- W1981656839 date "2000-01-01" @default.
- W1981656839 modified "2023-09-26" @default.
- W1981656839 title "Familial aortic aneurysms" @default.
- W1981656839 doi "https://doi.org/10.1097/00125817-200001000-00083" @default.
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