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

CARDIOLOGY IN THE YOUNG(2022)

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摘要
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.
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关键词
FBN1 protein, infant, Marfan syndrome, mitral valve prolapse, tricuspid valve prolapse
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