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CC BY 4.0 · Aorta (Stamford) 2017; 05(01): 11-20
DOI: 10.12945/j.aorta.2017.17.003
State-of-the-Art Review
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genes Associated with Thoracic Aortic Aneurysm and Dissection

An Update and Clinical Implications
Adam J. Brownstein
1   Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut, USA
,
Bulat A. Ziganshin
1   Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut, USA
,
Helena Kuivaniemi
2   Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, and Department of Psychiatry, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa
,
Simon C. Body
3   Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA
,
Allen E. Bale
4   Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA
,
John A. Elefteriades
1   Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut, USA
› Author Affiliations
Further Information

Publication History

06 January 2017

06 January 2017

Publication Date:
24 September 2018 (online)

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Abstract

Thoracic aortic aneurysm (TAA) is a lethal disease, with a natural history of enlarging progressively until dissection or rupture occurs. Since the discovery almost 20 years ago that ascending TAAs are highly familial, our understanding of the genetics of thoracic aortic aneurysm and dissection (TAAD) has increased exponentially. At least 29 genes have been shown to be associated with the development of TAAD, the majority of which encode proteins involved in the extracellular matrix, smooth muscle cell contraction or metabolism, or the transforming growth factor-β signaling pathway. Almost one-quarter of TAAD patients have a mutation in one of these genes. In this review, we provide a summary of TAAD-associated genes, associated clinical features of the vasculature, and implications for surgical treatment of TAAD. With the widespread use of next-generation sequencing and development of novel functional assays, the future of the genetics of TAAD is bright, as both novel TAAD genes and variants within the genes will continue to be identified.

Key Words

Thoracic aortic aneurysm and dissection (TAAD) - Genetics - Aortic aneurysm
 

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