Article
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.
Orphanet journal of rare diseases - 15 Mar 2018
Shalata Adel, Mahroom Mohammad, Milewicz Dianna M, Limin Gong, Kassum Fadi, Badarna Khader, Tarabeih Nader, Assy Nimmer, Fell Rona, Cohen Hector, Nashashibi Munir, Livoff Alejandro, Azab Muhammad, Habib George, Geiger Dan, Weissbrod Omer, Nseir William
Abstract excerpt
BACKGROUND: Thoracic and abdominal aortic aneurysms and dissection often develop in hypertensive elderly patients. At higher risk are smokers and those who have a family history of aortic aneurysms. In most affected families, the aortic aneurysms and dissection is inherited in an autosomal dominant manner with decreased penetrance and variable expressivity. Mutations at two chromosomal loci, TAA1 at 11q23 and the...
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