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Cardiol Young. 2018 May;28(5):765-767. doi: 10.1017/S1047951118000082. Epub 2018 Feb 15.

Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation.

Author information

1
1Cardiology Department,Hospital Sant Joan de Déu-Clínic,University of Barcelona,Barcelona,Spain.
2
2Cardiology Department,Hospital Vall d'Hebron,Barcelona,Spain.

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 root; Loeys-Dietz disease; aneurysm–osteoarthritis syndrome; ascending aorta

PMID:
29444731
DOI:
10.1017/S1047951118000082
[Indexed for MEDLINE]

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