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

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.

Keywords: Aortic aneurysm; Case report; Cutis laxa; EFEMP2; Genetics.

Figure 1

Posteroanterior chest X-ray, note the significantly enlarged cardiac silhouette.

Figure 2

(A) Contrast-enhanced axial computed tomography (CT) reveals an aneurysmal ascending aorta (ao) along with a severe pericardial effusion (PE). (B) Isovolumetric reconstruction of the entire aorta displays the distinctive ‘sausage-like’ morphology of the ascending aortic aneurysm, while the remainder of the aorta appears to be of normal size.

Figure 3

Post-pericardiocentesis transoesophageal echocardiogram in the mid-oesophageal view showing a large ascending aortic aneurysm (Ao) and residual pericardial effusion (PE).

Figure 4

Histopathological examination of the resected aorta with hematoxylin–eosin staining revealed disorganized elastic fibres in tunica media (arrow).

Figure 5

The structure of the EFEMP2 gene and previously reported variants are shown, with our patient’s variant highlighted in bold. (n), number of carriers of each variant; EGF, epidermal growth factor.