Presence of Bicuspid Aortic Valve in Children with a Genetic Aortopathy Changes the Phenotype of Aortic Dilatation. Implications for Risk Prediction

Background: Bicuspid aortic valve (BAV) is a common congenital abnormality. Precise correlation with genetic aortopathies is missing. It is not known whether the presence of BAV in children with genetic aortopathies leads to a different phenotype of aortic dilatation. We hereby evaluated the correlation of appearance of BAV with other cardiovascular pathologies and the degree of dilatation of the ascending aorta in genetic aortopathies in childhood.

Methods: Since 1998 we investigated 847 patients with suspected genetic aortopathies of which 305 patients were clinically or genetically diagnosed. 23 patients had a bicuspid aortic valve, of whom 15 children (65%) had a mutation in the FBN1 gene. We retrospectively analyzed the correlation of prevalence of aortic pathologies dilatation of sinus of valsalvae (SV) and ascending aorta, systemic manifestation of Ghent Criteria and mutations of genetic aortopathies with the appearance of BAV.

Results: Prevalence of BAV in pediatric patients with genetic aortopathies was 7.5%. Patients with a dilatation of the ascending aorta, had significantly more often a bicuspid aortic valve (p < 0.01). Dilatation of sinus of valsalvae did not occur more often in patients with BAV. Analysis of correlation of BAV with other cardiovascular pathologies and systemic manifestation did not show a correlation.

Conclusion: In our large pediatric patient group prevalence of BAV in genetic aortopathies was 7.5%. The presence of BAV has no impact on the degree of dilatation of the SV, but the ascending aorta is significantly more often dilatated. Thus, the phenotype of aortic dilatation is dependent of the presence of BAV even in patients with genetic aortopathies. This might have implications for the risk prediction of aortic dissection.

Publication History

Article published online:
13 February 2024