Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications

Adam J. Brownstein; Valentyna Kostiuk; Bulat A. Ziganshin; Mohammad A. Zafar; Helena Kuivaniemi; Simon C. Body; Allen E. Bale; John A. Elefteriades

doi:10.1055/s-0038-1639612

AORTA, Inhaltsverzeichnis

CC BY 4.0 · Aorta (Stamford) 2018; 06(01): 013-020
DOI: 10.1055/s-0038-1639612

State-of-the-Art Review

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications

Autoren

Adam J. Brownstein

¹Department of Surgery, Section of Cardiac Surgery, Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut
Valentyna Kostiuk

¹Department of Surgery, Section of Cardiac Surgery, Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut
Bulat A. Ziganshin

¹Department of Surgery, Section of Cardiac Surgery, Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut

²Department of Surgical Diseases # 2, Kazan State Medical University, Kazan, Russia
Mohammad A. Zafar

¹Department of Surgery, Section of Cardiac Surgery, Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut
Helena Kuivaniemi

³Division 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

⁴Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts
Allen E. Bale

⁵Department of Genetics, Yale School of Medicine, New Haven, Connecticut
John A. Elefteriades

¹Department of Surgery, Section of Cardiac Surgery, Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut

Abstract

Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%, are potentially lethal, via rupture or dissection. Over the prior two decades, there has been an exponential increase in our understanding of the genetics of thoracic aortic aneurysm and/or dissection (TAAD). To date, 30 genes have been shown to be associated with the development of TAAD and ∼30% of individuals with nonsyndromic familial TAAD have a pathogenic mutation in one of these genes. This review represents the authors' yearly update summarizing the genes associated with TAAD, including implications for the surgical treatment of TAAD. Molecular genetics will continue to revolutionize the approach to patients afflicted with this devastating disease, permitting the application of genetically personalized aortic care.

Keywords

genetics - thoracic aortic aneurysm - thoracic aortic dissection

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Referenzen

References
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