Although autosomal dominant inheritance is predominant in familial aortopathies, exceptions exist, such as cutis laxa 1B (CL1B)-related aortic disease, caused by variants in <i>EFEMP2</i> gene, that follows an autosomal recessive inheritance pattern.<h4>Case summary</h4>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 <i>EFEMP2</i> gene in homozygosis. This evidence concerns the gene EFEMP2 and pericardial effusion.