Tricuspid valve prolapse as an early predictor for severe phenotype in children with Marfan syndrome.

Abstract

In Marfan syndrome, various cardiovascular pathologies, such as aortic dilatation and mitral valve pathologies, already occur in childhood and determine course of the disease. This study aimed to establish additional cardiovascular risk markers for severe Marfan phenotypes. We investigated tricuspid valve prolapse (TVP) and its predictive value for outcome of paediatric Marfan disease. In this retrospective, observational cohort study, we identified 130 paediatric Marfan patients (10.7±4.8years) with FBN1 variants. We divided patients into two groups based on TVP presence and performed a cross-sectional analysis to investigate the association of TVP with other cardiovascular, ocular and systemic pathologies, at first and last visit. A longitudinal analysis was performed with follow-up data. At baseline, patients with TVP had higher incidence of aortic root dilatation (p=0.013), mitral valve prolapse (p=0.0001) and systemic manifestations (p=0.025) than patients without TVP. At follow-up, previous presence of TVP predicted higher probability of aortic root dilatation (p=0.002), mitral valve prolapse (p=0.0001) and systemic manifestations (p=0.002). This shows that TVP is linked to both cardiac and extracardiac Marfan manifestations and TVP is an important marker for a disease severity in these children. Therefore, TVP should be assessed routinely using echocardiography in paediatric Marfan patients.