A 28-year-old man with untreated familial hypercholesterolaemia and diabetes mellitus presenting with NSTEMI and severe premature three-vessel coronary artery disease, severe valvular and supravalvular aortic stenosis, and a porcelain aorta underwent successful conventional cardiac and aortic surgery with an uneventful post-operative course.
A 28-year-old male with untreated familial hypercholesterolaemia presented with non-ST-elevation myocardial infarction revealing severe premature three-vessel coronary artery disease.
The patient had concurrent severe valvular and supravalvular aortic stenosis in addition to three-vessel coronary artery disease.
Aortic computed tomography angiography confirmed the presence of a porcelain aorta and guided the surgical repair.
Despite the presence of a porcelain aorta, the patient successfully underwent conventional cardiac and aortic surgery with an uneventful post-operative course.
The authors concluded that ongoing efforts are required to improve early detection and prompt management of familial hypercholesterolaemia.
This research describes a single patient case report of a 28-year-old man with an inherited cholesterol disorder called familial hypercholesterolaemia (FH) who had never received treatment for the condition. FH causes extremely high levels of LDL ('bad') cholesterol from birth, and when both copies of the responsible gene are affected (homozygous form), the consequences can be severe and occur at a very young age. This young man developed blockages in all three major heart arteries, severe narrowing of the aortic heart valve at two locations, and a 'porcelain aorta' — a condition where the main artery leaving the heart becomes heavily calcified, much like a rigid shell — which is an extremely rare finding in someone so young and greatly complicates surgical treatment. Despite these formidable challenges, the surgical team successfully performed complex heart and aortic surgery using conventional techniques, aided by detailed CT scan imaging to plan the operation. The patient recovered without complications after surgery. This case demonstrates that even in the most difficult circumstances — a porcelain aorta combined with complex heart disease — experienced surgical teams using modern imaging and surgical techniques can achieve successful outcomes. This research suggests that untreated familial hypercholesterolaemia can lead to catastrophic and life-threatening cardiovascular disease even in very young patients, and underscores the critical importance of identifying and treating FH early in life, before such severe damage occurs. It also demonstrates that advanced surgical planning using CT imaging can help guide safe surgery even in technically challenging cases involving a porcelain aorta.
Kallel R, Jemaa H, Dhouib F, Fendri H, Samet A, Frikha I, et al.. (2026). Complex cardiac and porcelain aorta surgery in patients with untreated familial hypercholesterolaemia: a case report.. Cardiovascular journal of Africa. https://doi.org/10.5830/CVJA-2026-036