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CC BY 4.0 · Aorta (Stamford) 2019; 07(04): 099-107
DOI: 10.1055/s-0039-3400233
State-of-the-Art Review
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications

Thais Faggion Vinholo
1   Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut
,
Adam J. Brownstein
2   Department of Medicine, Johns Hopkins Hospital and Johns Hopkins School of Medicine, Baltimore, Maryland
,
Bulat A. Ziganshin
1   Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut
3   Department of Cardiovascular and Endovascular Surgery, Kazan State Medical University, Kazan, Russia
,
Mohammad A. Zafar
1   Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut
,
Helena Kuivaniemi
4   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
5   Department of Anesthesia, Critical Care and Pain Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts
,
Allen E. Bale
6   Department of Genetics, Yale School of Medicine, New Haven, Connecticut
,
John A. Elefteriades
1   Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut
› Author Affiliations Funding None.
Further Information

Publication History

Publication Date:
16 December 2019 (online)

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Abstract

Thoracic aortic aneurysm is a typically silent disease characterized by a lethal natural history. Since the discovery of the familial nature of thoracic aortic aneurysm and dissection (TAAD) almost 2 decades ago, our understanding of the genetics of this disorder has undergone a transformative amplification. To date, at least 37 TAAD-causing genes have been identified and an estimated 30% of the patients with familial nonsyndromic TAAD harbor a pathogenic mutation in one of these genes. In this review, we present our yearly update summarizing the genes associated with TAAD and the ensuing clinical implications for surgical intervention. Molecular genetics will continue to bolster this burgeoning catalog of culprit genes, enabling the provision of personalized aortic care.

Keywords

genetics - thoracic aortic aneurysm - aortic dissection
 

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