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(Circulation. 2003;107:791.)
© 2003 American Heart Association, Inc.

Images in Cardiovascular Medicine

Aortic Xanthomatosis With Coronary Ostial Occlusion in a Child Homozygous for a Nonsense Mutation in ABCG8

David Mymin, MD, FRCP; Jian Wang, MD; Jiri Frohlich, MD, FRCPC; Robert A. Hegele, MD, FRCPC

From Robarts Research Institute (D.M., J.W., R.A.H.), London, Ontario, and Healthy Heart Program (J.F.), St Paul’s Hospital, University of British Columbia, Vancouver, British Columbia, Canada.

Correspondence to Robert A. Hegele, MD, FRCPC, FACP, 406-100 Perth Dr, London, Ontario, Canada N6A 5K8. E-mail hegele@robarts.ca

An extract of the first 250 words of the full text is provided, because this article has no abstract.

A 5-year-old girl with a recent history of recurrent abdominal pain presented with acute respiratory distress that rapidly became asystolic. She then could not be revived. At autopsy, widespread yellow aortic xanthomas were seen, with severe atheromatous narrowing of both coronary ostia (Figure 1). The right and left anterior descending arteries showed focal marked atheromatous narrowing. Grossly and microscopically, there were no specific myocardial changes. Atheromas were also seen on the surfaces of the mitral valve leaflets and within the pulmonary artery. Aortic lesions extended to the level of the superior mesenteric artery, and atheromas were present in the branches of the aortic arch. Serum cholesterol concentration from a sample of post-mortem blood was 13.0 mmol/L (503 mg/dL). Parental lipoprotein profiles were relatively normal. Genomic DNA was isolated from frozen liver, and sequencing of the LDLR, APOB, ARH, and ABCG5 genes revealed no mutations. However, a novel C>G mutation was found at the second residue of codon nucleotide 107 in exon 3 of the ABCG8 gene, which predicted premature truncation of the protein product (S107X) (Figure 2). This mutation was absent from 400 normal chromosomes. The diagnosis of sitosterolemia, a rare autosomal recessive disorder of sterol absorption, was confirmed by documenting elevated serum total cholesterol and sitosterol concentrations in her sister, brother, and female cousin, aged 5, 4, and 8 years, respectively. Serum cholesterol was 10.8, 11.8, and 9.2 mmol/L (416, 455, and 356 mg/dL), respectively, and serum sitosterol concentrations were 282, 447, . . . [Full Text of this Article]

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