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      The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective

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          Abstract

          Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted the aorta due to high pressure and biomechanical stress, extensive investigation of the heritability and natural history of TAAD has shown a clear genetic basis for the disease. Here, we review both the cellular mechanisms and clinical manifestations of syndromic and non-syndromic TAAD. We particularly focus on genes that have been linked to dissection at diameters <5.0 cm, the current lower bound for surgical intervention. Genetic screening tests to identify patients with TAAD associated mutations that place them at high risk for dissection are also discussed.

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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)
          Article 0 comments Cited 516 times – based on 0 reviews     Review now
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            Thoracic aortic aneurysm clinically pertinent controversies and uncertainties.

            John A Elefteriades, Emily A Farkas (2010)
            This paper addresses clinical controversies and uncertainties regarding thoracic aortic aneurysm and its treatment. 1) Estimating true aortic size is confounded by obliquity, asymmetry, and noncorresponding sites: both echocardiography and computed tomography/magnetic resonance imaging are necessary for complete assessment. 2) Epidemiology of thoracic aortic aneurysm. There has been a bona fide increase in incidence of aortic aneurysm making aneurysm disease the 18th most common cause of death. 3) Aortic growth rate. Although a virulent disease, thoracic aortic aneurysm is an indolent process. The thoracic aorta grows slowly-0.1 cm/year. 4) Evidence-based intervention criteria. It is imperative to extirpate the thoracic aorta before rupture or dissection occurs; surgery at 5.0- to 5.5-cm diameter will prevent most adverse natural events. Symptomatic (painful) aneurysms must be resected regardless of size. 5) Development of nonsize criteria. Mechanical properties of the aorta deteriorate at the same 6 cm at which dissection occurs; elastic properties of the aorta may soon become useful intervention criteria. 6) Medical treatment of aortic aneurysm. Medical treatment is of unproven value, even beta-blockers and angiotensin-receptor blockers. 7) A genetic disease. Even non-Marfan aneurysms have a strong genetic basis. 8) Need for biomarkers. Virulent but silent, TAA cries out for a biomarker that can predict the onset of adverse events. Pathophysiologic understanding has led to identification of promising biomarkers, especially metalloproteinases. 9) Endovascular therapy for aneurysms. Endovascular therapy has burgeoned, despite the fact that the EVAR-2, DREAM, and INSTEAD trials showed no benefit at mid-term over medical or conventional surgical therapy. We must avoid "irrational exuberance." 10) Inciting events for acute aortic dissection. Recent evidence shows that dissections are preceded by a specific severe exertional or emotional event. 11) "Silver lining" of aortic disease. Proximal aortic root disease seems to protect against arteriosclerosis. Copyright 2010 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
            Article 0 comments Cited 147 times – based on 0 reviews     Review now
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              Lessons on the pathogenesis of aneurysm from heritable conditions.

              C. Dietz, Kathryn E. Lindsay (2011)
              Aortic aneurysm is common, accounting for 1-2% of all deaths in industrialized countries. Early theories of the causes of human aneurysm mostly focused on inherited or acquired defects in components of the extracellular matrix in the aorta. Although several mutations in the genes encoding extracellular matrix proteins have been recognized, more recent discoveries have shown important perturbations in cytokine signalling cascades and intracellular components of the smooth muscle contractile apparatus. The modelling of single-gene heritable aneurysm disorders in mice has shown unexpected involvement of the transforming growth factor-β cytokine pathway in aortic aneurysm, highlighting the potential for new therapeutic strategies.
              Article 0 comments Cited 126 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Biomolecules
                Journal ID (iso-abbrev): Biomolecules
                Journal ID (publisher-id): biomolecules
                Title: Biomolecules
                Publisher: MDPI
                ISSN (Electronic): 2218-273X
                Publication date (Electronic): 24 January 2020
                Publication date Collection: February 2020
                Volume: 10
                Issue: 2
                Electronic Location Identifier: 182
                Affiliations
                [1 ]Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, CT 06510, USA; nostberg@ 123456stanford.edu (N.P.O.); mohammad.zafar@ 123456yale.edu (M.A.Z.); bulat.ziganshin@ 123456yale.edu (B.A.Z.)
                [2 ]Department of Cardiovascular and Endovascular Surgery, Kazan State Medical University, 420012 Kazan, Russia
                Author notes
                Author information
                https://orcid.org/0000-0002-8223-4585
                https://orcid.org/0000-0003-1666-199X
                Article
                Publisher ID: biomolecules-10-00182
                DOI: 10.3390/biom10020182
                PMC ID: 7072177
                PubMed ID: 31991693
                SO-VID: 26545dd4-b6f1-4649-b5a0-7096e683f101
                Copyright © © 2020 by the authors.
                License:

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 26 November 2019
                Date accepted : 16 January 2020
                Categories
                Subject: Review

                Keywords: thoracic aortic aneurysm and dissection (taad),genetics,genetic screening,syndromic taad,non-syndromic taad
                Data availability:
                Keywords: thoracic aortic aneurysm and dissection (taad), genetics, genetic screening, syndromic taad, non-syndromic taad

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