ArticleJACC. Case reports2026
Anterior STEMI Revealing Homozygous Familial Hypercholesterolemia With Supravalvular Aortic Stenosis.
Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- When Cholesterol Can Kill at 20: Recognizing and Managing Homozygous Familial Hypercholesterolemia in the Young.JACC. Case reports · 2026Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHomozygous familial hypercholesterolemia (HoFH) causes markedly elevated low-density lipoprotein cholesterol from birth, accelerated atherosclerosis, and early cardiovascular death. Supravalvular aortic stenosis is an uncommon but serious cardiovascular manifestation. CASE SUMMARY: A 20-year-old Asian man presented with a 4-hour history of rest angina associated with diaphoresis and was diagnosed with an anterior ST-segment elevation myocardial infarction (STEMI). Lipid testing showed a total cholesterol level of 570 mg/dL and a low-density lipoprotein cholesterol level of 510 mg/dL, with an elevated lipoprotein(a) level of 176 nmol/L. Echocardiography demonstrated supravalvular flow acceleration across normal tricuspid aortic valve with a Doppler peak/mean gradient of 43/12 mm Hg. Computed tomography aortography showed focal sinotubular junction/ascending aortic narrowing with a planimetry area of 1.09 cm DISCUSSION: This case highlights genetically confirmed HoFH presenting as anterior ST-segment elevation myocardial infarction with surgically repaired supravalvular aortic stenosis at 20 years of age, emphasizing multimodality imaging, heart team planning, and lipid-lowering therapy. TAKE-HOME MESSAGE: HoFH should be suspected in any very young patient with myocardial infarction, severe hypercholesterolemia, and a family history of dyslipidemia or sudden death.
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