Familial thoracic aortic aneurysm and dissection

Definition:

Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single gene disorder. Familial TAAD is diagnosed based on the presence of dilatation and/or dissection of the thoracic aorta, absence of clinical features of Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome, and presence of a positive family history of TAAD. TGFBR2, TGFBR1, MYH11, ACTA2, and two loci on other chromosomes, AAT1 and AAT2, are associated with familial TAAD.

References:

[1]. Dianna M Milewicz, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet. 2008;9:283-302. [Content Brief]

[2]. Dong-Chuan Guo, et al. Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection. Circ Cardiovasc Genet. 2011 Feb;4(1):36-42. [Content Brief]

[3]. Dong-chuan Guo, et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circ Res. 2016 Mar 18;118(6):928-34. [Content Brief]

[4]. Dong-Chuan Guo, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 Dec;39(12):1488-93. [Content Brief]

[5]. Dong-chuan Guo, et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet. 2013 Aug 8;93(2):398-404. [Content Brief]

[6]. Gábor Mátyás, et al. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat. 2006 Aug;27(8):760-9. [Content Brief]

[7]. Hariyadarshi Pannu, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005 Jul 26;112(4):513-20. [Content Brief]

[8]. Li Wang, et al. Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet. 2010 Nov 12;87(5):701-7. [Content Brief]

[9]. Limin Zhu, et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet. 2006 Mar;38(3):343-9. [Content Brief]

[10]. Mathieu Barbier, et al. MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. Am J Hum Genet. 2014 Dec 4;95(6):736-43. [Content Brief]

[11]. R Erbel, et al. Diagnosis and management of aortic dissection. Eur Heart J. 2001 Sep;22(18):1642-81. [Content Brief]

[12]. Sandy Elbitar, et al. Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm. Genet Med. 2021 Jan;23(1):111-122. [Content Brief]

[13]. Shao-Qing Kuang, et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest. 2016 Mar 1;126(3):948-61. [Content Brief]

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