Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl

Balkan Medical Journal
Filiz EkiciFırat Kardelen

Abstract

Homozygous familial hypercholesterolemia is a rare inherited metabolic disease caused by low-density lipoprotein receptor abnormality. Patients with homozygous familial hypercholesterolemia have an increased risk of cardiovascular complication that usually occurs in the first decade of life. Here, we report a 12-year-old girl with an unpredicted presentation for coronary artery disease and found to have homozygous familial hypercholesterolemia. A 12-year-old girl was admitted to our unit with syncope. Chest X-ray showed bilateral diffuse pneumonic consolidation and mild cardiomegaly. We detected stable ST depression by electrocardiography. Echocardiography showed normal systolic functions. Troponin-1 levels were high (66 mcg/dL, upper limit: 0.04 mcg/dL). Influenza A virus DNA was detected by the respiratory viral panel. After her successful treatment for acute pneumonia and myocarditis due to Influenza A virus, her syncope attacks persisted. Marked ST elevation was observed during exercise electrocardiography. Coronary angiography showed severe occlusions in the coronary arteries. High serum levels of total cholesterol (756 mg/dL) and low-density lipoprotein-C (556 mg/dL) were noticed. She had no tendon xanthomas. Medical hist...Continue Reading

Citations

Aug 21, 2020·Current Atherosclerosis Reports·Sujana BallaFatima Rodriguez
May 21, 2021·BMJ Case Reports·Gayatri Suresh KumarShahab Ghafghazi

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BETA
X-ray
coronary bypass
coronary artery bypass

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