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

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          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.

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          2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology,American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons,and Society for Vascular Medicine.

          Loren Hiratzka, George L. Bakris, Joshua A Beckman … (2010)
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            The Ehlers-Danlos syndrome, a disorder with many faces.

            Fransiska Malfait, Anne Paepe (2012)
            The Ehlers-Danlos syndromes (EDSs) comprise a heterogeneous group of diseases, characterized by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs. The clinical spectrum varies from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. The current Villefranche classification recognizes six subtypes, most of which are linked to mutations in genes encoding fibrillar collagens or enzymes involved in post-translational modification of these proteins. Mutations in type V and type III collagen cause classic or vascular EDS respectively, while mutations involving the processing of type I collagen are involved in the kyphoscoliosis, arthrochalasis and dermatosparaxis type of EDS. Establishing the correct EDS subtype has important implications for genetic counseling and management and is supported by specific biochemical and molecular investigations. Over the last years, several new EDS variants have been characterized which call for a refinement of the Villefranche classification. Moreover, the study of these diseases has brought new insights into the molecular pathogenesis of EDS by implicating genetic defects in the biosynthesis of other extracellular matrix (ECM) molecules, such as proteoglycans and tenascin-X, or genetic defects in molecules involved in intracellular trafficking, secretion and assembly of ECM proteins. © 2012 John Wiley & Sons A/S.
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              Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis.

              Yuanyi Feng, Ming Hui Chen, Ivan Moskowitz … (2006)
              Mutations in the human Filamin A (FLNA) gene disrupt neuronal migration to the cerebral cortex and cause cardiovascular defects. Complete loss of Flna in mice results in embryonic lethality with severe cardiac structural defects involving ventricles, atria, and outflow tracts, as well as widespread aberrant vascular patterning. Despite these widespread developmental defects, migration and motility of many cell types does not appear to be affected. Instead, Flna-null embryos display abnormal epithelial and endothelial organization and aberrant adherens junctions in developing blood vessels, heart, brain, and other tissues. Essential roles for FLNA in intercellular junctions provide a mechanism for the diverse developmental defects seen in patients with FLNA mutations.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Aorta (Stamford)
                Journal ID (iso-abbrev): Aorta (Stamford)
                Journal ID (doi): 10.1055/s-00039245
                Title: AORTA Journal
                Publisher: Thieme Medical Publishers (333 Seventh Avenue, New York, NY 10001, USA. )
                ISSN (Electronic): 2325-4637
                Publication date Collection: February 2018
                Publication date (Electronic): 27 July 2018
                Volume: 6
                Issue: 1
                Pages: 13-20
                Affiliations
                [1 ]Department of Surgery, Section of Cardiac Surgery, Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut
                [2 ]Department of Surgical Diseases # 2, Kazan State Medical University, Kazan, Russia
                [3 ]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
                [4 ]Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts
                [5 ]Department of Genetics, Yale School of Medicine, New Haven, Connecticut
                Author notes
                Address for correspondence John A. Elefteriades, MD Aortic Institute at Yale-New Haven, Yale University School of Medicine 789 Howard Avenue, Clinic Building – CB317 New Haven, CT 06519 john.elefteriades@ 123456yale.edu
                Article
                Publisher ID: 180003
                DOI: 10.1055/s-0038-1639612
                PMC ID: 6136681
                PubMed ID: 30079932
                SO-VID: c1abd1a8-b610-4de8-aeaa-c88935d2e7a2
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Funding
                Funding None.
                Categories
                Subject: State-of-the-Art Review

                Keywords: genetics,thoracic aortic aneurysm,thoracic aortic dissection
                Data availability:
                Keywords: genetics, thoracic aortic aneurysm, thoracic aortic dissection

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