Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.

Alejandro Used-Gavín José María Larrañaga-MoreiraRafael Lago-CascudoVíctor X Mosquera-RodríguezRoberto Barriales Villa

Published in: European heart journal. Case reports (2023)

This case underscores the importance of genetic testing in young patients presenting with aortopathies, syndromic features, or atypical presentations, irrespective of family history.

Keyphrases

aortic aneurysm
intellectual disability
pulmonary artery
middle aged
case report
rare case
aortic dissection
coronary artery
pulmonary arterial hypertension