Bicuspid Aortic Valve in Children with Marfan Syndrome: High Appearance without Correlation to Severity of Clinical Symptoms

Objectives: The development of most pathologies in Marfan syndrome (MFS) is age dependent and thus not helpful for prediction of clinical outcome. Bicuspid aortic valve (BAV) is the most common congenital heart disease (2%). It is correlated with MFS and prevalence is up to 4.7% in adult patients with MFS. Nevertheless data in childhood about appearance and relevance for severity of phenotype is missing. Subsequently it may be a predictor for later onset of pathologies and helpful to determine individual patient care. We hereby evaluated correlation of appearance of BAV with other cardiovascular and systemic pathologies of MFS in childhood.

Methods: Since 2008 we investigated 381 patients (11.4 ± 5.5 years) with suspected MFS, whereas in 139 patients MFS was diagnosed. Thereby 16 patients showed BAV. We retrospectively analyzed correlation of prevalence and age of onset of cardiovascular pathologies (dilatation of sinus of valsalvae (SV), mitral valve prolapse), systemic manifestation of Ghent Criteria and FBN1 mutation of MFS with appearance of BAV.

Results: Prevalence of BAV in pediatric Marfan patients was 11.5% whereas age of patients with and without BAV did not differ significantly. There is no correlation of prevalence or age of onset of BAV with cardiovascular pathologies, systemic manifestation and FBN1 mutation.

Conclusion: In our large collective prevalence of BAV in MFS was surprisingly higher compared to adult. The reason is not known, but can possibly be an effect of selection. Indeed, occurrence of BAV did not correlate with severity of clinical phenotype. Especially dilatation of SV did not appear earlier or more often in patients with BAV. Thus BAV is present frequently in MFS but is not a predictor for clinical outcome and estimation of need for therapy in childhood. Development of pathologies in those patients in adulthood is unknown but may be relevant for course of disease. Good predictors for clinical outcome and severity of phenotype in childhood are unfortunately still missing.