Acute Coronary Syndrome in a 9-Year-Old Girl With Homozygous Familial Hypercholesterolemia

JACC Case Rep. 2024 Aug 7;29(15):102417. doi: 10.1016/j.jaccas.2024.102417.

Abstract

Familial hypercholesterolemia (FH) is a prevalent and underrecognized disorder. A young girl with previously undiagnosed homozygous FH presented with acute coronary syndrome. Severe coronary ostial stenosis and severe supravalvular aortic stenosis from atheromatous plaque was discovered. This case highlights the importance of screening and timely diagnosis of FH.

Keywords: acute coronary syndrome; familial hypercholesterolemia; supravalvular aortic stenosis.

Publication types

  • Case Reports