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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: [email protected]
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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
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Copyright
© The Author(s), 2023. Published by Cambridge University Press

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