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- Title
Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report.
- Authors
Used-Gavín, Alejandro; Larrañaga-Moreira, José María; Lago-Cascudo, Rafael; Mosquera-Rodríguez, Víctor X; Barriales-Villa, Roberto
- Abstract
Background Thoracic aortic aneurysms are rarely symptomatic but can result in acute aortic syndromes, associated with a high mortality rate. While most cases may be acquired, a genetic basis is evident in approximately 20–25% of the cases, especially among patients under 50 years of age, and those exhibiting syndromic features or family history. Although autosomal dominant inheritance is predominant in familial aortopathies, exceptions exist, such as cutis laxa 1B (CL1B)-related aortic disease, caused by variants in EFEMP2 gene, that follows an autosomal recessive inheritance pattern. Case summary We present the case of a 26-year-old male with a giant ascending aorta aneurysm and massive pericardial effusion, which was ultimately diagnosed of CL1B due to the p.Ser137Cys variant in the EFEMP2 gene in homozygosis. The patient underwent successful ascending aorta replacement (Bentall´s procedure). There were not complications or further events after 2 years of follow-up. Discussion This case underscores the importance of genetic testing in young patients presenting with aortopathies, syndromic features, or atypical presentations, irrespective of family history.
- Subjects
ASCENDING aorta aneurysms; CUTIS laxa; THORACIC aneurysms; AORTIC rupture; PERICARDIAL effusion; GENETIC testing; GENETIC variation
- Publication
European Heart Journal Case Reports, 2023, Vol 7, Issue 11, p1
- ISSN
2514-2119
- Publication type
Article
- DOI
10.1093/ehjcr/ytad530