Hostname: page-component-848d4c4894-8kt4b Total loading time: 0 Render date: 2024-06-27T13:19:04.146Z Has data issue: false hasContentIssue false
  • English
  • Français

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
Get access Rights & Permissions [Opens in a new window]

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
Check for updates
Copyright
© The Author(s), 2021. Published by Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

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