Literature DB >> 34526162

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

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


  1 in total

Review 1.  [Latest advances in the diagnosis and treatment of Marfan syndrome].

Authors:  Shu-Ting Yang; Fang Luo
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2022-07-15
  1 in total

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