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

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.

Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses

“…Systematic searches were conducted in PubMed, Cochrane, Cinahl, Eric, Google Scholar and Web of Science (literature from 1990 to 20th of October 2018). The following search terms were used: heritable thoracic aortic aneurysm dissection OR familiar thoracic aortic aneurysm dissection OR thoracic aortic aneurysm dissection OR genetic aortic disease OR MFS OR LDS OR vEDS OR EDS Or Rienhoff OR arterial tortuosity OR dissection OR aneurysm OR osteoarthritis syndrome OR HTAAD OR FTAAD OR TAAD OR the terms all 30 genes associated with HTAAD (14 982 hits). Another search was carried out in the same databases with the terms and operators related to Quality of life (QoL) with the following terms and operators: Health‐related quality of life OR Quality of life OR HRQoL OR QoL OR SF‐36 OR life satisfaction OR psychosocial OR psychological OR psychiatric OR social‐emotional functioning OR emotional‐well‐being OR satisfaction with life OR life satisfaction OR well‐being OR life happiness OR mental health (a total of 903 708 hits).…”

“…The three basic inclusion criteria (Table ) were: (a) individuals affected with a specific HTAAD diagnosis . HTAAD were defined as diagnoses/genes associated to HTAAD …”

“…Hereditary thoracic aortic aneurysm and dissection (HTAAD) is a group of rare hereditary conditions affecting the aorta and other major arteries . The most common conditions include Marfan syndrome (MFS), Loeys‐Dietz syndrome (LDS) and vascular Ehlers‐Danlos syndrome (vEDS) .…”

“…An extensive list of human genes and clinical implications associated with HTAAD are described in several papers. To date, 30 genes have been found to be associated with HTAAD …”

Screening for thoracic aortic pathology: Clinical practice in a single tertiary center

“…The decision which imaging modality was indicated for patients was based on clinical experience and preference of the treating physician (JR, JC, or RM). Demographic, clinical, and family data together with information about genetic testing were obtained from the electronic patient files. Hypertension, hypercholesterolemia, and diabetes mellitus were defined as current use of medication for that particular disease.…”