title: 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.
authors.affiliation: Department of Baylor Heart and Vascular Institute, Baylor University Medical Center, Dallas, Texas; Department of Pathology, Baylor University Medical Center, Dallas, Texas. Electronic address: wc.roberts@baylorhealth.edu.
authors.forename: William C
authors.initials: WC
authors.lastname: Roberts
authors.affiliation: Department of Baylor Heart and Vascular Institute, Baylor University Medical Center, Dallas, Texas.
authors.forename: Vera S
authors.initials: VS
authors.lastname: Won
authors.affiliation: Department of Radiology, Baylor University Medical Center, Dallas, Texas.
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Weissenborn
authors.affiliation: Division of Cardiology, Department of Internal Medicine, Baylor University Medical Center, Dallas, Texas.
authors.forename: Adnan
authors.initials: A
authors.lastname: Khalid
authors.affiliation: Department of Cardiothoracic Surgery, Baylor University Medical Center, Dallas, Texas.
authors.forename: Brian
authors.initials: B
authors.lastname: Lima
mesh_terms: D000328:Adult; D001012:Aorta, Abdominal / Q000473:pathology*; D001013:Aorta, Thoracic / Q000473:pathology*; D001018:Aortic Diseases / Q000175:diagnosis* / Q000209:etiology; D002114:Calcinosis / Q000175:diagnosis* / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000235:genetics; D010375:Pedigree