Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women

American Journal of Medical Genetics. Part a
Van Tran-FaduluDianna M Milewicz

Abstract

Ascending thoracic aortic aneurysms leading to type A dissections can be inherited in an autosomal dominant manner with variable age of onset and decreased penetrance, primarily in women. Three families are described with autosomal dominant inheritance of either ascending aortic aneurysms leading to type A dissections or type B dissections, and a young age of onset of aortic dissections in both men and women. Pedigree analysis suggests that a de novo mutation is responsible for the disease in one family. The discordant age of onset of aortic disease in a monozygotic twin pair in a different family indicates that environmental or stochastic factors may influence the variable expression of disease. Genetic analysis of one family excluded linkage to known loci for TAAD (TAAD1, TAAD2, FAA1, or FBN1) and sequence analysis failed to identify mutations in TGFBR2, the gene encoding transforming growth factor beta receptor type II. Thus, a novel unidentified loci may be responsible for the phenotype in these three families.

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Citations

Oct 13, 2010·BMC Medical Genetics·Ali R KeramatiArya Mani
Jul 17, 2013·The Journal of Surgical Research·Darrell WuScott A LeMaire
Dec 17, 2008·La Presse médicale·N Costin RaduMatthias E Kirsch
Sep 16, 2008·Ageing Research Reviews·Fang LuoRu-Tai Hui
Dec 22, 2006·Annals of the New York Academy of Sciences·Hariyadarshi PannuDianna M Milewicz
Jun 10, 2014·Birth Defects Research. Part A, Clinical and Molecular Teratology·Ya XuPaul J Boor
Aug 6, 2013·American Journal of Human Genetics·Dong-chuan GuoDianna M Milewicz
Aug 30, 2016·The Annals of Thoracic Surgery·Alan S ChouJohn A Elefteriades
May 14, 2016·Shock·Rachel M RussoTimothy K Williams
Oct 8, 2015·Toxicological Sciences : an Official Journal of the Society of Toxicology·Zhenping ChenPaul J Boor
May 1, 2018·European Journal of Preventive Cardiology·Davide CarinoFrancesco Nicolini

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