Early-Onset Myocardial Infarction in a 13-Year-Old With Homozygous Familial Hypercholesterolemia Managed by PCI

Homozygous familial hypercholesterolemia is an autosomal codominant genetic disorder leading to highly elevated low-density lipoprotein cholesterol and premature atherosclerosis.

A 13-year-old boy with no comorbidities had acute chest pain and cardiogenic shock. Electrocardiogram documented anterior ST-segment elevation. Echocardiography revealed left ventricular ejection fraction of 35%. Lipid panel showed total cholesterol of 616 mg/dL and low-density lipoprotein cholesterol of 541 mg/dL. Physical examination was performed with widespread xanthomas and corneal arcus. Coronary angiography revealed severe left main and 2-vessel disease. He received successful elective percutaneous coronary intervention of the left main to left anterior descending with TIMI flow grade 3.

This case points out the necessity of early diagnosis of homozygous familial hypercholesterolemia, intensive lifelong lipid-lowering therapy, and family cascade screening for averting premature coronary events.