Hostname: page-component-76fb5796d-5g6vh Total loading time: 0 Render date: 2024-04-28T21:28:53.329Z Has data issue: false hasContentIssue false
  • English
  • Français

Myhre syndrome: expanding its paediatric phenotypic spectrum

Published online by Cambridge University Press:  16 June 2023

Laia Brunet-Garcia Open the ORCID record for Laia Brunet-Garcia [Opens in a new window] ,
Fredy Hermógenes Prada Martínez  and
Juan Manuel Carretero Bellon
Laia Brunet-Garcia
Affiliation:
Department of Paediatric Cardiology, Consorci Sanitari del Maresme, Hospital de Mataró, Barcelona, Spain
Fredy Hermógenes Prada Martínez
Affiliation:
Department of Paediatric Cardiology, Hospital Sant Joan de Déu. Barcelona, Spain
Juan Manuel Carretero Bellon*
Affiliation:
Department of Paediatric Cardiology, Hospital Sant Joan de Déu. Barcelona, Spain Department of Paediatric Cardiology, Hospital Universitari Joan XXIII, Universitat Rovira i Virgili, Tarragona, Spain
*
Corresponding author: Juan Manuel Carretero Bellon; Email: juan.carretero@sjd.es
Get access Rights & Permissions [Opens in a new window]

Abstract

Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial dysmorphism, and potential cardiac manifestations. Herein, we report two new paediatric cases of Myhre syndrome who, additionally, presented with mid-aortic syndrome. This confirms and extends the scarce reports describing the association between these two entities.

Keywords

Myhre syndromemid-aortic syndromeSMAD4 pathogenic variantsTGF-β signallingsignallingpaediatric
Type
Brief Report
Information
Cardiology in the Young , Volume 33 , Issue 11 , November 2023 , pp. 2408 - 2410
Check for updates
Copyright
© The Author(s), 2023. 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

Li, J, Zhu, T, Yang, S, Yang, F, Wu, J, Xiong, F. Myhre syndrome misdiagnosed as marfan syndrome: an educational presentation. Brazil J Cardiovasc Surg. 2021; 36: 700–702.10.21470/1678-9741-2020-0592CrossRefGoogle ScholarPubMed
Starr, LJ, Lindor, NM, Lin, AE. Myhre Syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al. (eds.) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle, 2017; 1993–2022. Bookshelf.Google Scholar
Yang, DD, Rio, M, Michot, C, et al. Natural history of Myhre syndrome. Orphanet J Rare Dis 2022; 17: 304.10.1186/s13023-022-02447-xCrossRefGoogle ScholarPubMed
Lim, D, Kim, JH, Lee, J. Myhre syndrome: the first case in korea. Ann Pediatr Endocrinol Metab. 2021; 26: 210–214.10.6065/apem.2040214.107CrossRefGoogle ScholarPubMed
Lin, AE, Michot, C, Cormier-Daire, V, et al. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. Am J Med Genet Part A. 2016; 170: 2617–2631.10.1002/ajmg.a.37739CrossRefGoogle Scholar
Sandmann, W, Dueppers, P, Pourhassan, S, Voiculescu, A, Klee, D, Balzer, KM. Early and long-term results after reconstructive surgery in 42 children and two young adults with renovascular hypertension due to fibromuscular dysplasia and middle aortic syndrome. Eur J Vasc Endovasc Surg. 2014; 47: 509–516.10.1016/j.ejvs.2013.12.012CrossRefGoogle ScholarPubMed
Tummolo, A, Marks, SD, Stadermann, M, et al. Mid-aortic syndrome: long-term outcome of 36 children. Pediatr Nephrol. 2009; 24: 2225–2232.10.1007/s00467-009-1242-6CrossRefGoogle ScholarPubMed
Starr, LJ, Grange, DK, Delaney, JW, et al. Myhre syndrome: clinical features and restrictive cardiopulmonary complications. Am J Med Genet Part A. 2015; 167: 2893–2901.10.1002/ajmg.a.37273CrossRefGoogle Scholar
Meerschaut, I, Beyens, A, Steyaert, W, et al. Myhre syndrome: a first familial recurrence and broadening of the phenotypic spectrum. Am J Med Genet Part A. 2019; 179: 2494–2499.10.1002/ajmg.a.61377CrossRefGoogle ScholarPubMed