Cardiac Surgery in Homozygous Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia is a rare metabolic disorder with characteristic clinical presentations, such as tendon xanthomas, hypercholesterolemia, and significant cardiovascular disease including premature coronary artery disease. We describe a case of a 56-year-old woman with homozygous familial hypercholesterolemia. She had been treated with low-density lipoprotein apheresis for 23 years. Preoperative echocardiography and coronary angiography showed severe aortic valve stenosis and right coronary artery stenosis. Aortic valve replacement with patch enlargement of the aortic valve annulus, and coronary artery bypass grafting were successfully performed. She was discharged uneventfully.