ST Elevation Myocardial Infarction in a Patient with Hereditary Hemorrhagic Telangiectasia Involving the Liver / 대한내과학회지

ABSTRACT

This is a case report of a 71-year-old woman with hereditary hemorrhagic telangiectasia (hereditary hemorrhagic telangiectasia [HHT], Osler–Weber–Rendu syndrome) involving the liver who developed ST elevation myocardial infarction and died from aggressive coronary thrombosis. HHT is an autosomal dominant hereditary disease associated with mutations of genes that regulate the endothelial surface. It has characteristic muco-cutaneous telangiectasia and other common manifestations are epistaxis, gastrointestinal bleeding, and iron-deficiency anemia. In addition, arteriovenous malformations or vascular ectases commonly occur in the pulmonary, hepatic, and cerebral circulations. Hemorrhages and thrombosis can both develop from these vascular abnormalities in HHT. Most thrombotic events are forms of venous thrombosis, such as deep vein thrombosis, while arterial thrombosis occurs infrequently. We present a case of aggressive coronary thrombosis in HHT, as a rare complication of HHT.