Abstract
Marfan syndrome is a connective tissue disease that rarely presents first with peripheral
aortic aneurysms. We highlight the case of a young man with Marfan syndrome presenting
with an abdominal aortic aneurysm due to a heterozygous fibrillin-1 gene mutation.
Résumé
Le syndrome de Marfan est une maladie du tissu conjonctif qui se manifeste rarement
par des anévrismes d'artères périphériques ou aortiques. Nous présentons le cas d'un
jeune homme atteint du syndrome de Marfan présentant un anévrisme aortique abdominal
dû à une mutation hétérozygote du gène de la fibrilline-1.
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References
- The revised Ghent nosology for the Marfan syndrome.J Med Genet. 2010; 47: 476-485
- Abdominal aortic aneurysm in Marfan syndrome.Ann Vasc Surg. 2017; 4: 294.e1-294.e6
- Marfan syndrome and related disorders: 25 years of gene discovery.Hum Mutat. 2016; 37: 524-531
- A novel fibrillin 1 gene mutation leading to Marfan syndrome with minimal cardiac features.Mol Syndromol. 2014; 5: 236-240
- A novel FBN1 mutation causes autosomal dominant Marfan syndrome.Mol Med Rep. 2017; 16: 7321-7328
Article info
Publication history
Published online: August 12, 2021
Accepted:
July 28,
2021
Received:
August 4,
2020
Footnotes
See page 1872 for disclosure information.
Identification
Copyright
© 2021 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
