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Potential Relevance to Abdominal Aortic Aneurysms
a Department of Internal Medicine and Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, USA
Key Words: aneurysms • dissections • aorta • aortic disease • transforming growth factor-  • TGFBR1 • TGFBR2 • FBN1 • MYH11
Address for correspondence: Dr. D.M. Milewicz, 6431 Fannin, Department of Internal Medicine and Institute of Molecular Medicine, The University of Texas Health Science Center, MSB 6.100, Houston, TX, 77030. Voice: 713-500-6725; fax: 713-500-0693. e-mail: Dianna.M.Milewicz{at}uth.tmc.edu
Ascending thoracic aortic aneurysms leading to type A dissections (TAAD) have long been known to occur in association with a genetic syndrome such as Marfan syndrome (MFS). More recently, TAAD has also been demonstrated to occur as an autosomal dominant disorder in the absence of syndromic features, termed familial TAAD. Familial TAAD demonstrates genetic heterogeneity, and linkage studies have identified TAAD loci at 5q13-14 (TAAD1), 11q23 (FAA1), 3p24-25 (TAAD2), and 16p12.2-13.13. The genetic heterogeneity of TAAD is reflected by variation in disease in terms of the age of onset, progression, penetrance, and association with additional cardiac and vascular features. The underlying genetic heterogeneity of TAAD is reflected in the phenotypic variation associated with familial TAAD with respect to age of onset, progression, penetrance, and association with additional cardiac and vascular features. Mutations in the TGFBR2 gene have been identified as the cause of disease linked to the 3p24-25 locus, implicating dysregulation of TGF-
signaling in TAAD. Mutations in myosin heavy chain (MYH11), a smooth muscle cell-specific contractile protein, have been identified in familial TAAD associated with patent ductus arteriosus (PDA) linked to 16p12.2-12.13. The identification of these novel disease pathways has led to new directions for future research addressing the pathology and treatment of TAAD.
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