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. 2023 Jan 12:9:1036522.
doi: 10.3389/fcvm.2022.1036522. eCollection 2022.

Risk for acquired coronary artery disease in genetic vs. congenital thoracic aortopathy

Onur B Dolmaci  1   2 , Tugay Ayyildiz  2 , Robert E Poelmann  3   4 , Antoine H G Driessen  2 , Dave R Koolbergen  1   2 , Robert J M Klautz  1   2 , Jan H N Lindeman  5 , Nimrat Grewal  1   2   6
Affiliations

Risk for acquired coronary artery disease in genetic vs. congenital thoracic aortopathy

Onur B Dolmaci et al. Front Cardiovasc Med. .

Abstract

Objective: Patients with Marfan syndrome (MFS) and patients with a bicuspid aortic valve (BAV) have a significantly increased risk to develop thoracic aortopathy. Both conditions share many pathophysiological mechanisms leading to aortic complications. Bicuspidy is known to have a low risk for acquired coronary artery sclerosis. The aim of this study is to determine the risk of coronary sclerosis in MFS patients.

Methods: Marfan syndrome patients with an aortic root dilatation, which were surgically treated between 1999 and 2017, were included and matched with BAV and tricuspid aortic valves (TAV) patients based on sex and age. Cardiovascular risk profiles were determined in all three groups. Coronary sclerosis was graded in all patients on coronary imaging (coronary angiography or computed tomography) using a coronary artery scoring method, which divides the coronaries in 28 segments and scores non-obstructive (20-49% sclerosis) and obstructive coronary sclerosis (>49% sclerosis) in each segment.

Results: A total of 90 matched patients (30 within each group) were included. MFS patients showed less cardiovascular risk factors compared to BAV and TAV patients. TAV patients had higher amounts of obstructive coronary sclerosis as compared to BAV patients (p = 0.039) and MFS patients (p = 0.032). No difference in non- and obstructive coronary artery disease (CAD) was found between the MFS and BAV population.

Conclusion: Marfan syndrome and bicuspid aortic valve patients have a significantly lower risk for, and prevalence of CAD as compared to TAV individuals.

Keywords: Marfan syndrome; aortic dilatation; ascending aortic aneurysm; bicuspid aortic valve; coronary artery disease.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Coronary artery segments (according to CASS) and the corresponding weight factors used for the CAGE score, adapted from Scanlon et al. (20), Vlietstra et al. (21), and Emond et al. (22).
FIGURE 2
FIGURE 2
Coronary artery disease and cardiovascular risk profiles. BAV, bicuspid aortic valve; CAD, coronary artery disease; MFS, Marfan syndrome; TAV, tricuspid aortic valve.
See this image and copyright information in PMC

References

    1. Sakai L, Keene D, Renard M, Backer J. FBN1: the disease-causing gene for marfan syndrome and other genetic disorders. Gene. (2016) 591:279–91. 10.1016/j.gene.2016.07.033 - DOI - PMC - PubMed
    1. Ward C. Clinical significance of the bicuspid aortic valve. Heart. (2000) 83:81–5. 10.1136/heart.83.1.81 - DOI - PMC - PubMed
    1. Verma S, Siu S. Aortic dilatation in patients with bicuspid aortic valve. N Engl J Med. (2014) 370:1920–9. 10.1056/NEJMra1207059 - DOI - PubMed
    1. Jones J, Ikonomidis J. The pathogenesis of aortopathy in marfan syndrome and related diseases. Curr Cardiol Rep. (2010) 12:99–107. 10.1007/s11886-010-0083-z - DOI - PMC - PubMed
    1. Grewal N, Gittenberger-de Groot A, Thusen JV, Wisse L, Bartelings M, DeRuiter M, et al. The development of the ascending aortic wall in tricuspid and bicuspid aortic valve: a process from maturation to degeneration. J Clin Med. (2020) 9:908. 10.3390/jcm9040908 - DOI - PMC - PubMed