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. 2022 Dec;9(2):e002097.
doi: 10.1136/openhrt-2022-002097.

Growth of the aortic root in children and young adults with Marfan syndrome

Elroy van Elsäcker  1 , Arja S Vink  2   3 , Leonie A Menke  4 , Gerard Pals  5 , Regina Bokenkamp  6 , Ad C P M Backx  2 , Yvonne Hilhorst-Hofstee  7 , Nicolaas A Blom  2   6 , Annelies E van der Hulst  1
Affiliations

Growth of the aortic root in children and young adults with Marfan syndrome

Elroy van Elsäcker et al. Open Heart. 2022 Dec.

Abstract

Objectives: The primary aim was to gain insight into the growth of the aortic root in children and young adults with Marfan syndrome (MFS). Furthermore, we aimed to identify a clinical profile of patients with MFS who require an aortic root replacement at a young age with specific interest in age, sex, height and fibrillin-1 (FBN1) genotype.

Methods: Aortic root dimensions of 97 patients with MFS between 0 year and 20 years and 30 controls were serially assessed with echocardiography. Trends were analysed using a linear mixed-effect model. Additionally, including only patients with MFS, we allowed trends to differ by sex, aortic root replacement and type of FBN1 mutation.

Results: Average aortic root dilatation in patients with MFS became more pronounced after the age of 8 years. In the MFS cohort, male patients had a significantly greater aortic root diameter than female patients, which was in close relationship with patient height. There was no difference in aortic root growth between children with dominant negative (DN) or haploinsufficient FBN1 mutations. However, DN-FBN1 variants resulting in loss of cysteine content were associated with a more severe phenotype. Eleven children needed an aortic root replacement. Compared with patients with MFS without aortic root surgery, these children had a significantly larger aortic root diameter from an early age.

Conclusions: This study provides clinically useful longitudinal growth charts on aortic root growth in children and young adults with MFS. Children requiring prophylactic aortic root replacement during childhood can be identified at a young age. Our growth charts can help clinicians in decision making with regard to follow-up and prophylactic therapy. Loss of cysteine content in the FBN1 protein was associated with larger aortic root dimensions.

Keywords: Aneurysm, Dissecting; Aortic Aneurysm; Marfan Syndrome.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Individual and average aortic root diameters (in mm) in 97 patients with Marfan syndrome (purple) and 30 control subjects (black); 95% CIs are depicted (grey area).
Figure 2
Figure 2
Individual and average aortic root diameters (in mm) in 61 male patients with Marfan syndrome (blue) and 36 female patients with Marfan syndrome (pink); 95% CIs are depicted (grey area).
Figure 3
Figure 3
Height (in cm) versus aortic root diameter (in mm) in 61 male patients with Marfan syndrome (blue) and 36 female patients with Marfan syndrome (pink); 95% CIs are depicted (grey area).
Figure 4
Figure 4
Individual and average aortic root diameter (in mm) in 55 children with DN-FBN1 variants (green), 37 children with HI-FBN1 variants (blue) and 5 children with an unknown FBN1 variant or unclassifiable FBN1 variant (red); 95% CIs are depicted (grey area).
Figure 5
Figure 5
Individual and average aortic root diameter (in mm) of 55 children with DN-FBN1 variants resulting in a loss of cysteine content (15 children, grey), gain of cysteine content (9 children, red) or not affecting the cysteine content (31 children, pink); 95% CIs are depicted (grey area). Due to the lack of data about aortic root growth in DN-FBN1 variants resulting in a loss of cysteine content in older children, the 95% CI between the ages of 17.5 and 20.0 years becomes extremely large.
Figure 6
Figure 6
Individual and average aortic root diameter (in mm) in patients with Marfan syndrome who underwent an aortic root replacement (green) and patients with Marfan syndrome who did not (red); 95% CIs are shown (grey area).
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