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

AORTA

article

Thais Faggion Vinholo¹  Adam J. Brownstein²  Bulat A. Ziganshin¹  Mohammad A. Zafar¹  Helena Kuivaniemi⁴  Simon C. Body⁵  Allen E. Bale⁶  John A. Elefteriades¹ 

[1] Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine;Department of Medicine, Johns Hopkins Hospital and Johns Hopkins School of Medicine;Department of Cardiovascular and Endovascular Surgery, Kazan State Medical University;Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, and Department of Psychiatry, Faculty of Medicine and Health Sciences, Stellenbosch University;Department of Anesthesia, Beth Israel Deaconess Medical Center, Harvard Medical School;Department of Genetics, Yale School of Medicine

关键词: genetics;    thoracic aortic aneurysm;    aortic dissection;   

DOI  :  10.1055/s-0039-3400233

来源: Thieme

【 摘 要 】

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.

【 授权许可】

Unknown