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

Simon C Body,Adam J Brownstein,Allen E Bale,Mohammad A Zafar,Thais Faggion Vinholo,John A Elefteriades,Bulat A Ziganshin,Helena Kuivaniemi

doi:10.1055/s-0039-3400233

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.

Highlights

We have updated the list of genes with identified genetic variants predisposing individuals to a thoracic aortic aneurysm or dissection (TAAD) in ►Table 1, and the recommendation for individualized surgical interventions for specific genetic mutations is presented in ►Fig. 1
The number of genes with genetic variants or mutations associated with TAAD has increased from 29 in our original 2017 report[2] to 37 in this 2019 update
With our greater understanding of the genetics of the individuals affected with TAAD and their specific genetic mutations or susceptibility variants, we can provide a personalized aortic care, tailoring surgical recommendations for each patient depending on their individual genetic profiles

Summary

Introduction

This review presents an annual update to the article “Genes Associated with Thoracic Aortic Aneurysm and Dissection: Update and Clinical Implications” originally published in 2017 and updated in 2018 in AORTA.[1,2] We have updated the list of genes with identified genetic variants predisposing individuals to a thoracic aortic aneurysm or dissection (TAAD) in ►Table 1, and the recommendation for individualized surgical interventions for specific genetic mutations is presented in ►Fig. 1.Thoracic aortic aneurysm (TAA) affects 1% of the general population[3] and its natural history is to enlarge an average of 0.14 cm per year.[4].

Results

Conclusion