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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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References

Pepe, G, Giusti, B, Sticchi, E, Abbate, R, Gensini, GF, Nistri, S. Marfan syndrome: current perspectives. Appl Clin Genet 2016; 9: 55–65.CrossRefGoogle ScholarPubMed
Strigl, S, Quagebeur, JM, Gersony, WM. Quadrivalvar replacement in infantile Marfan syndrome. Pediatr Cardiol 2007; 28: 403–405.CrossRefGoogle ScholarPubMed
Seo, YJ, Lee, K-E, Kim, GB, Kwon, BS, Bae, EJ, Noh, CI. Infantile Marfan syndrome in a Korean tertiary referral center. Korean J Pediatr 2016; 59: 59–64.CrossRefGoogle Scholar
Amado, M, Calado, MA, Ferreira, R, Lourenco, T. Neonatal Marfan syndrome: a successful early multidisciplinary approach. BMJ Case Rep 2014; 13: bcr2013202438.CrossRefGoogle Scholar
Sutherell, J, Zarate, Y, Tinkle, BT, et al. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis 2007; 2: 342–346.CrossRefGoogle Scholar
Tognato, E, Perona, A, Aronica, A, et al. Neonatal Marfan syndrome. Am J Perinatol 2019; 36: S74–S76.Google ScholarPubMed
Kelly, A, Palmer, A, Manaktala, R, Magge, A. Double valve replacement of the mitral and tricuspid valves: an uncommon result of Austrian syndrome. Int J Cardiol 2016; 223: 536–537.CrossRefGoogle ScholarPubMed
Liu, P, Qiao, W-H, Sun, F-Q, et al. Should a mechanical or biological prosthesis be used for a tricuspid valve replacement? A meta-analysis. J Card Surg 2016; 31: 294–302.CrossRefGoogle ScholarPubMed
Fan, X, Tang, Y, Zhang, G, et al. Risk factors of chronic left ventricular dysfunction after cardiac valve surgery. J Thorac Dis 2020; 12: 4854–4859.CrossRefGoogle ScholarPubMed
ter Heide, H, Schrander-Stumpel, CTRM, Pals, G, Delhaas, T. Neonatal Marfan syndrome: clinical report and review of the literature. Clin Dysmorphol 2005; 14: 81–84.CrossRefGoogle Scholar