Complex cardiac and porcelain aorta surgery in patients with untreated familial hypercholesterolaemia: a case report

Rahma Kallel, Hela Ben Jemaa, Faten Dhouib, Hela Fendri, Amal Samet, Imed Frikha, Hichem Denguir

Abstract

Familial hypercholesterolaemia (FH) is a genetic disorder characterised by elevated levels of circulating low-density lipoprotein cholesterol. Serious presentations are challenging to treat. We report a case of complex cardiovascular outcomes in a 28-year-old man with diabetes mellitus and untreated FH. The diagnostic workup was compatible with a homozygous phenotype. The patient presented with a non-ST-elevation myocardial infarction, which revealed severe premature three-vessel coronary artery disease with significant proximal blockages, including severe ostial left main stenosis, as well as severe valvular and supravalvular aortic stenosis. Aortic computed tomography angiography (CTA) confirmed the presence of a porcelain aorta and a guided repair. Despite the porcelain aorta, the patient underwent conventional cardiac and aortic surgery with an uneventful post-operative course. This case highlights a rare case of successful cardiac and aortic surgery in the context of a porcelain aorta, performed safely by experienced surgeons using current perfusion and operative techniques guided by CTA imaging. Ongoing efforts are required to improve early detection and prompt management of FH.