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Marfan syndrome in a paediatric cohort: the importance of family history

Published online by Cambridge University Press:  17 March 2023

Laia Brunet-Garcia Open the ORCID record for Laia Brunet-Garcia [Opens in a new window] ,
Angela Lopez Sainz  and
Juan Manuel Carretero Bellon
Laia Brunet-Garcia
Affiliation:
Department of Paediatric Cardiology, Consorci Sanitari del Maresme, Hospital de Mataró, Barcelona, Spain
Angela Lopez Sainz
Affiliation:
Department of Cardiology, Hospital Clínic de Barcelona, 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
*
Author for correspondence: Juan Manuel Carretero Bellon, Department of Paediatric Cardiology, Hospital Sant Joan de Déu, Barcelona, Spain. E-mail: [email protected]
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Abstract

Marfan syndrome is a rare connective tissue disorder secondary to mutations in the FBN1 gene, characterised by skeletal, ocular, and cardiovascular manifestations. We present an extensive cohort of paediatric patients with Marfan syndrome highlighting the vital importance of promptly referring paediatric first-degree relatives of Marfan syndrome paediatric patients to a tertiary hospital as our results confirm that they are at higher risk of aortic dilatation.

Keywords

Connective tissue disorderMarfan syndromeaortic dilatationaortic surgeryfamily history
Type
Brief Report
Information
Cardiology in the Young , Volume 33 , Issue 9 , September 2023 , pp. 1733 - 1734
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Copyright
© The Author(s), 2023. Published by Cambridge University Press

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