ISSN : 2146-3123
E-ISSN : 2146-3131

Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-old Girl
Filiz Ekici1, Salih Özçobanoğlu2, Fırat Kardelen3
1Department of Pediatric Cardiology, Akdeniz University School of Medicine, Antalya, Turkey
2Department of Cardiovascular Surgery, Akdeniz University School of Medicine, Antalya, Turkey
3Department of Pediatric Cardiology, Akdeniz University School of Medicine, Antalya, Turkey
DOI : 10.4274/balkanmedj.2017.0490

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disease, caused by low-density lipoprotein receptor abnormality. Patients with HoFH have an increased risk for cardiovascular complication (CVC) that usually occurs in the first decade of life. We report a twelve years-old girl with unpredicted presentation for coronary artery disease (CAD) and she was found to have HoFH.
Case Report: A 12 years old girl was admitted to our unit with syncope. Chest X-ray showed bilateral diffuse pneumonic consolidation and mild cardiomegaly. There was stable ST depression by electrocardiography(ECG). Echocardiography showed normal systolic functions. Troponin -I was very high (66 mcg/dl, upper limit: 0,04 mcg/dl). Influenza A virus DNA was detected by 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 ECG. 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. History revealed that her family members were diagnosed with Heterozygous familial hypercholesterolemia. A coronary bypass surgery was performed. Statin and Ezetimibe were started. We also planned lipid apheresis.
Conclusion: Children with HoFH may not have characteristic symptoms and clinical findings. Early diagnosis can be achieved by strong clinical suspicion or screening programs. Children with HoFH need aggressive treatment strategies.

Keywords : Premature Coronary Artery Disease, Homozygous Familial Hypercholesterolemia, children, coronary surgery
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