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Review
. 2020 Feb;25(1):63-77.
doi: 10.1177/1358863X19886361.

Diagnostic approach and management of genetic aortopathies

Rohan Bhandari  1 , Rajani D Aatre  2 , Yogendra Kanthi  2   3
Affiliations
Review

Diagnostic approach and management of genetic aortopathies

Rohan Bhandari et al. Vasc Med. 2020 Feb.

Abstract

Aortic aneurysms were the primary cause of nearly 10,000 deaths in 2014 according to data from the Centers for Disease Control and may involve segments of the thoracic or abdominal aorta. Thoracic aortic aneurysms and dissections are more commonly associated with an underlying genetic etiology. In the past several decades, in parallel with the burst of new genome sequencing technologies, a number of genetic aortopathies have been identified. These have provided important insights into the molecular mechanisms of aneurysmal disease, but pose challenges in clinical practice as there are limited consensus recommendations at this time. In this review, we aim to address the pathophysiology, clinical presentation, and treatment considerations in the key heritable thoracic aortopathies.

Keywords: Loeys–Dietz; Marfan syndrome; aneurysm; aortic dissection; arteriopathy; genetics; vascular Ehlers–Danlos; vascular medicine.

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Conflict of interest statement

Declaration of conflicting interests

The authors declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: YK is supported by the National Heart, Lung & Blood Institute, American Venous Forum Foundation, Bo Schembechler Heart of a Champion Foundation, Frankel Cardiovascular Center, and has received cnsulting fees from Acer Therapeutics. The other authors have no relevant financial or COI disclosures.

Figures

Figure 1.
Figure 1.
An example of a detailed 5-generation pedigree of a patient with an FBN-1 mutation with the proband marked by the black arrowhead. The squares represent males and circles represent females in this family. Diagonal lines indicate deceased members. The numbers below each shape indicates the known or approximated age in years at the time of pedigree analysis. Afib, atrial fibrillation; CHF, congestive heart failure; HTN, hypertension; LVH, left ventricular hypertrophy; MFS, Marfan syndrome; MI, myocardial infarction; SVT, supraventricular tachycardia.
Figure 2.
Figure 2.
Sagittal (left) and 3D reconstruction (right) CT angiogram shows aortic aneurysm that measured 54 mm at the sinus of Valsalva in a patient with Marfan syndrome.
Figure 3.
Figure 3.
Proposed approach to management of TAA’s with attention to medical management, suggested lifestyle modifications, recommended criteria for referral to aortic geneticists and surveillance imaging frequency based upon aortic aneurysm growth velocities. *If the TAA is large (refer to Table 5) at the time of initial diagnosis and/or there are concerning features such as eccentric shape, periaortic stranding or inflammation, thrombus fissuration or porcelain aorta, then repeat short term surveillance imaging and/or immediate consideration of surgical intervention should be pursued on a case by case basis. ACE, angiotensin converting enzyme; ARB, angiotensin II receptor blocker; BP, blood pressure; CT, computed tomography; HR, heart rate; MRI, magnetic resonance imaging; TTE, transthoracic echocardiogram.
Figure 4.
Figure 4.
Genetic counselors and medical geneticists provide important insights into patient care prior to and following genetic testing.
See this image and copyright information in PMC

References

    1. GBD 2015 DALYs and HALE Collaborators. Global, regional, and national disability-adjusted life-years (DALYs) for 315 diseases and injuries and healthy life expectancy (HALE), 1990–2015: A systematic analysis for the Global Burden of Disease Study 2015. Lancet 2016; 388: 1603–1658. - PMC - PubMed
    1. Aune D, Schlesinger S, Norat T, et al. Tobacco smoking and the risk of abdominal aortic aneurysm: A systematic review and meta-analysis of prospective studies. Sci Rep 2018; 8: 14786. - PMC - PubMed
    1. Ramanath VS, Oh JK, Sundt TM 3rd, et al. Acute aortic syndromes and thoracic aortic aneurysm. Mayo Clin Proc 2009; 84: 465–481. - PMC - PubMed
    1. Elefteriades JA. Thoracic aortic aneurysm: Reading the enemy’s playbook. Curr Probl Cardiol 2008; 33: 203–277. - PubMed
    1. Isselbacher EM. Epidemiology of thoracic aortic aneurysms, aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcers In: Eagle KA, Baliga RR, & Isselbacher EM, et al. (eds) Aortic dissection and related syndromes. Boston, MA: Springer, 2007, pp. 3–15.