Neonatal Marfan syndrome with missense variant of c.3706T> C undergoing bilateral atrioventricular valve replacement

Cardiol Young. 2021 Sep 16;1-4. doi: 10.1017/S1047951121003905. Online ahead of print.


Neonatal Marfan syndrome is a rare condition with poor prognosis because of severe mitral and/or tricuspid valve insufficiency. Mitral valve replacement is sometimes required in early infancy, while tricuspid valve replacement is rarely done. We report the first infant neonatal Marfan syndrome case with a missense variant of c.3706T>C in the fibrillin-1 gene that was successfully managed by mitral and tricuspid valve replacement. Early multiple-valve replacement may sometimes be required during infant age in this genetic syndrome.

Keywords: FBN1 protein; Marfan syndrome; infant; mitral valve prolapse; tricuspid valve prolapse.