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

Part of: Surgery

Published online by Cambridge University Press:  16 September 2021

Junpei Kawamura Open the ORCID record for Junpei Kawamura [Opens in a new window] ,
Kentaro Ueno  and
Yoshifumi Kawano
Junpei Kawamura
Affiliation:
Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
Kentaro Ueno*
Affiliation:
Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
Yoshifumi Kawano
Affiliation:
Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan
*
Author for correspondence: Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan. Tel: +81 99 275 5354; Fax: +81 99 265 7196. E-mail: ukenta@m3.kufm.kagoshima-u.ac.jp
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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.

Keywords

FBN1 proteininfantMarfan syndromemitral valve prolapsetricuspid valve prolapse
Type
Brief Report
Information
Cardiology in the Young , Volume 32 , Issue 5 , May 2022 , pp. 833 - 836
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Copyright
© The Author(s), 2021. Published by Cambridge University Press

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