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Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation

Part of: Cardiac Morphology

Published online by Cambridge University Press:  15 February 2018

Jose Arroyave ,
Juan Manuel Carretero  and
Domenico Gruosso
Jose Arroyave*
Affiliation:
Cardiology Department, Hospital Sant Joan de Déu-Clínic, University of Barcelona, Barcelona, Spain
Juan Manuel Carretero
Affiliation:
Cardiology Department, Hospital Sant Joan de Déu-Clínic, University of Barcelona, Barcelona, Spain
Domenico Gruosso
Affiliation:
Cardiology Department, Hospital Vall d’Hebron, Barcelona, Spain
*
Author for correspondence: J. Arroyave, Cardiology Department, Hospital Sant Joan de Déu-Clínic, University of Barcelona, Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat, Spain. Tel: +34 932 53 21 00; Fax: +34 932 03 39 59; E-mail: jarroyave@sjdhospitalbarcelona.org
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Abstract

Aneurysm–osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by SMAD3 mutations. Aneurysm–osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present in almost all patients. We present the case of a non-syndromic young boy with SMAD3 mutation isolated from the dilated aortic root and ascending aorta without osteoarthritis.

Keywords

Dilated aortic rootascending aortaLoeys-Dietz diseaseaneurysm–osteoarthritis syndrome
Type
Brief Report
Information
Cardiology in the Young , Volume 28 , Issue 5 , May 2018 , pp. 765 - 767
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Copyright
© Cambridge University Press 2018 

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