Aortic Xanthomatosis With Coronary Ostial Occlusion in a Child Homozygous for a Nonsense Mutation in <i>ABCG8</i>

Abstract excerpt

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 The right and left anterior descending arteries showed focal marked atheromatous narrowing. Grossly and microscopically,...

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