Cystic medial necrosis of aorta, Annuloaortic ectasia
Aorta
Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch, ascending or descending portions. FAD is thought to be passed down as an autosomal dominant disease and once inherited will result in dissection of the aorta, and dissecting aneurysm of the aorta, or rarely aortic or arterial dilation at a young age. Dissection refers to the actual tearing open of the aorta. However, the exact gene(s) involved has not yet been identified.[1] It can occur in the absence of clinical features of Marfan syndrome and of systemic hypertension.[2][3][4][5][6] Over time this weakness, along with systolic pressure, results in a tear in the aortic intima layer thus allowing blood to enter between the layers of tissue and cause further tearing. Eventually complete rupture of the aorta occurs and the pleural cavity fills with blood. Warning signs include chest pain, ischemia, and hemorrhaging in the chest cavity. This condition, unless found and treated early, usually results in death. Immediate surgery is the best treatment in most cases.[7] FAD is not to be confused with PAU (penetrating atherosclerotic ulcers) and IMH (intramural hematoma), both of which present in ways similar to that of familial aortic dissection.[8]
^Nicod P, Bloor C, Godfrey M, et al. (1989). "Familial aortic dissecting aneurysm". Journal of the American College of Cardiology. 13 (4): 811–9. doi:10.1016/0735-1097(89)90221-0. PMID 2647812.
^Disertori M, Bertagnolli C, Thiene G, et al. (August 1991). "[Familial dissecting aortic aneurysm]". Giornale Italiano di Cardiologia (in Italian). 21 (8): 849–53. PMID 1769452.
^Cucchi G. (1997). "[Familial aortic dissection in a young woman. A clinical case and review of the literature]". Cardiologia (in Italian). 42 (2): 211–3. PMID 9138854.
^Marwick TH, Woodhouse SP, Birchley IN, Strong RW (1987). "Management of familial aortic dissection". Chest. 92 (5): 954–6. doi:10.1378/chest.92.5.954. PMID 3665621. Archived from the original on 2013-04-14.
^Milewicz DM, Guo DC, Tran-Fadulu V, et al. (2008). "Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction". Annual Review of Genomics and Human Genetics. 9: 283–302. doi:10.1146/annurev.genom.8.080706.092303. PMID 18544034.
^Guo DC, Pannu H, Tran-Fadulu V, et al. (2007). "Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections". Nature Genetics. 39 (12): 1488–93. doi:10.1038/ng.2007.6. PMID 17994018. S2CID 62785801.
^Cite error: The named reference Pretre was invoked but never defined (see the help page).
^Gallo A, Davies R, Coe M, Elefteriades J, Coady M (2005). "Indications, timing, and prognosis of operative repair of aortic dissections". Seminars in Thoracic and Cardiovascular Surgery. 17 (3): 224–35. doi:10.1053/j.semtcvs.2005.06.004. PMID 16253827.
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