Key result
Conventional cardiac surgery proves feasible and safe in severe familial hypercholesterolemia with porcelain aorta.
Why the study?
Serious cardiovascular presentations in untreated familial hypercholesterolaemia are challenging to treat and require detailed surgical planning.
Case Report (n=1)
This case demonstrates that complex cardiac and aortic surgery can be performed safely in patients with severe familial hypercholesterolaemia and a porcelain aorta when guided by CTA imaging.
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 guided the surgical 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.
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Kallel et al. (2026) conducted a case report in Familial hypercholesterolaemia (n=1). Conventional cardiac and aortic surgery was evaluated on Post-operative course. Conventional cardiac and aortic surgery was successfully and safely performed in a 28-year-old man with untreated familial hypercholesterolaemia and a porcelain aorta.
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