Massive Diffuse Calcification of the Ascending Aorta and Minimal Focal Calcification of the Abdominal Aorta in Heterozygous Familial Hypercholesterolemia.

ABSTRACT

A 41-year-old woman, the mother of 3 offspring, with likely heterozygous familial hypercholesterolemia, had been asymptomatic until age 38 when angina pectoris and exertional dyspnea appeared leading to the discovery of severe multivessel coronary artery disease and a massively calcified ascending aorta. Coronary bypass grafting using the right and left internal mammary arteries did not alleviate the symptoms. Evidence of overt heart failure subsequently appeared and that led to heart transplantation at age 41. She died 22 days later. The occurrence of massive diffuse calcification of the ascending aorta and minimal focal calcification of the abdominal aorta is rare and in the patient described it appears to be the consequence of heterozygous familial hypercholesterolemia.