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

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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Publication Details

Journal
JACC Case Reports
Published
2024-08-01
DOI
https://doi.org/10.1016/j.jaccas.2024.102417
Primary Topic
Lipoproteins and Cardiovascular Health
Type
article
Field-Weighted Citation Impact
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article

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

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

Snigdha Bhatia, Mamdouh Al Ahmadi, Peter Sassalos, Neha Ahluwalia, Mishita Goel, Luis Afonso, Irfan Shafi, Christina Arand, Preetha L. Balakrishnan
article en

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.

JACC Case ReportsVol. 29(15)
Wayne State University (US), Detroit Medical Center (US), Children's Hospital of Michigan (US)
Good health and well-being
Openalex Percentile: Top 76%
Lipoproteins and Cardiovascular Health
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