Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome

Abstract

Key Points1. A number of inherited conditions can predispose the aorta, and less commonly other blood vessels, to dilatation and/ or rupture.2. Broadly speaking, these conditions are recognised as syndromic when accompanied by a number of systemic features or non-syndromic when the aortic dilatation appears to exist in isolation.3. The commonest syndromic aortopathy is Marfan syndrome and the commonest nonsyndromic aortopathy is that which accompanies congenital bicuspid aortic valve.4. Mutations in a number of genes have been identified, particularly in syndromic aortopathy.5. Although genotype-phenotype relationships exist, the phenotypes of the syndromic aortopathies may have significant overlap .6. When a syndromic aortopathy is suspected, review by a clinical geneticist is instrumental in characterising the clinical signs and the family history.7. Confirmation of a diagnosis (either clinically or by gene testing) allows identification of individuals at increased risk of aortic sequelae who will benefit from active medical management.8. Medical management is usually undertaken by a cardiologist with referral to other specialists (eg cardiothoracic surgeons) as appropriate.9. At risk family members should be offered predictive testing if a mutation is identified, and should otherwise be screened in keeping with the presumptive clinical diagnosis and assessment of risk.10. Pregnancy and the post-partum period confer a higher risk for aortic complications: a. Women with a personal or family history of aortopathy need appropriate preconception screening and counseling.b. Intervention may be required pre-conception and they should be managed closely throughout pregnancy, ideally in a high-risk obstetric clinic. A c c e p t e d M a n u s c r i p t 3 pregnancy, beta blockers can be used in pregnancy) and should include involvement of a cardiologist in the management and decision making for delivery.11. A clinical diagnosis of an inherited aortopathy can be made in the absence of a positive genetic test if the systemic features are consistent with a specific syndromic aortopathy. A familial history of aortic dissection in the absence of both a positive gene test and systemic examination findings may be more difficult to manage without a working clinical diagnosis. However, an inherited risk of dissection should nonetheless be considered in this setting, particularly if the process has affected young individuals and/or in the absence of traditional risk factors.

Neonatal Arterial Tortuosity and Adult Aortic Aneurysm—Is There a Missing Link?—A Case Report

“…It is a part of the genetic syndromes with thoracic aortic aneurysm and dissection (TAAD) including Marfan's Syndrome (MS), Loeys Dietz Syndrome (LDS), Ehlers Danlos Syndrome (EDS). Familial TAAD (FTAAD) denotes a group of non-syndromic disorders which generally present with isolated TAAs, without associated characteristic systemic features ( 5 ).…”

Early and midterm results of frozen elephant trunk operation with Evita open stent-graft in patients with Marfan syndrome: results of a multicentre study

“…The patients were operated in nine cardiac surgery centers (Leipzig, Germany; Essen, Germany; Bologna, Italy; Barcelona, Spain; Birmingham, UK; Tampere, Finland; Vienna, Austria; Stuttgart, Germany; Rzeszow, Poland). A total of 37 patients [mean age 38 ± 11 years, men 65%] meeting Ghent criteria for Marfan syndrome were included in the study [ 13 ]. Thirty-five (95%) patients were presented with acute or chronic aortic dissection, whereas 2 (5%) patients with dilatation of the aortic arch or proximal descending thoracic aorta.…”

The importance of genetics and genetic counselors in the evaluation of patients with bicuspid aortic valve and aortopathy

“…Patients with syndromic forms of bicuspid aortic valve, with or without aortopathy, such as Marfan, Turner, Loeys-Dietz, or vascular Ehlers-Danlos syndromes, should be referred for genetic counseling and evaluation. Evaluation of cardiac and noncardiac features, as well as genetic test results, will guide recommendations for additional screening of other family members [24].…”