Surgical strategies for severe calcification of the aorta (porcelain aorta) in two patients with homozygous familial hypercholesterolemia.

Homozygous familial hypercholesterolemia (HzFH) is a rare genetic defect caused predominantly by mutations at the low-density lipoprotein receptor. Until recent advances in the management of this complex disorder, patients affected by HzFH rarely survived beyond 30 years of age. Two patients with HzFH who survived to adulthood and developed cardiovascular complications requiring surgery are reported. In these patients, a porcelain aorta complicated surgical management. Lipid profile, mutational analysis and pathological assessment of the aorta were performed in two patients referred for cardiac surgery. The first patient was a 46-year-old man with a history of coronary artery bypass grafting (CABG) and recurrent severe angina who, because of a heavily calcified ascending aorta, required a complex repeat CABG. The second patient was a 42-year-old woman who underwent CAGB at 28 years of age and presented 13 years later with aortic stenosis. The extensive calcifications of the whole aortic root required performance of a modified Cabrol procedure. A porcelain aorta appears to be a feature of HzFH. This has an important impact on surgical planning and management and on possible pathophysiological processes related to the cardiovascular complications of HzFH.