Thoracic aortic aneurysm and aortic dissection
At a minimum, these SNPs are known to be related, and others may also be
Familial thoracic aortic aneurysm and aortic dissection (familial TAAD or FTAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. Familial TAAD is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that are not inherited, such as damage to the walls of the aorta from aging, tobacco use, injury, or disease. Thoracic aortic aneurysms are usually asymptomatic until a catastrophic complication such as a dissection or rupture occurs; many patients with a type A dissection die before they reach a hospital.GHR
Dominantly inherited mutations (with potentially reduced penetrance) in any of several genes are associated with familial TAAD. Mutations in the ACTA2 gene have been identified in 14 to 20 percent of people with this disorder, and TGFBR2 gene mutations have been found in 2.5 percent of affected individuals. The molecular mechanism of aortic dissection may result from dysfunction in the contractile apparatus of smooth muscle cells (SMCs) in the aortic wall (mutations in ACTA2, MYH11, MYLK), by disturbances in TGF-β signaling (mutations in TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD3) or by dysfunction of the extracellular matrix (mutations in FBN1, COL3A1).GHR;[PMID 27586135
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