Case report demonstrates acute coronary syndrome in a 9-year-old girl with homozygous familial hypercholesterolemia, highlighting the critical need for timely pediatric lipid screening.
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.
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Goel et al. (2024) studied this question.
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