| Literature DB >> 34526162 |
Junpei Kawamura1, Kentaro Ueno1, Yoshifumi Kawano1.
Abstract
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.Entities:
Keywords: FBN1 protein; Marfan syndrome; infant; mitral valve prolapse; tricuspid valve prolapse
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Year: 2021 PMID: 34526162 DOI: 10.1017/S1047951121003905
Source DB: PubMed Journal: Cardiol Young ISSN: 1047-9511 Impact factor: 1.093