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Journals / İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi / 2018 / Cilt: 8 - Sayı: 1

A 10-year-old child who underwent coronary artery bypass graft with the indication of familial hypercholesterolemia

Familyal hiperkolesterolemi nedeni ile 10 yaşında koroner bypass yapılan çocuk olgu

Tülay DEMİRCAN
Özgür KIZILCA
Nuh YILMAZ
Cüneyt ZİHNİ
Bahattin ÖNCÜ
Mustafa KIR
Nurettin ÜNAL
Baran UĞURLU
Pages
69–71
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

This case is presented to highlight that coronary lesions may develop at an early disease stage of the patients with hyperlipidemia.

📌 3 Key Takeaways

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Objective & Hypothesis:Homozygous familial hypercholesterolemia (HoFH) is a result of a defect in lowdensity lipoprotein (LDL) receptor gene located on the short arm of chromosome 19 which leads to inadequate clearance of lipoproteins from blood circulation.
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Key Findings & Data:In homozygous types coronary lesions emerge due to early atherosclerosis in the first decade of life, and untreated patients are lost generally when they are 20 years of age.
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Conclusion & Impact:This case is presented to highlight that coronary lesions may develop at an early disease stage of the patients with hyperlipidemia.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Homozygous familial hypercholesterolemia (HoFH) is a result of a defect in lowdensity lipoprotein (LDL) receptor gene located on the short arm of chromosome 19 which leads to inadequate clearance of lipoproteins from blood circulation. Homozygous and heterozygous types are available. In homozygous types coronary lesions emerge due to early atherosclerosis in the first decade of life, and untreated patients are lost generally when they are 20 years of age. Our patient was admitted to our outpatient clinic with the complaint of exertional chest pain six months after diagnosis of familial hypercholesterolemia. Coronary angiography was performed because of the patological exercise stress test. Significant coronary artery stenosis was detected. Then the patient successfully underwent coronary bypass grafting. This case is presented to highlight that coronary lesions may develop at an early disease stage of the patients with hyperlipidemia.

Özet

Familyal hiperkolesterolemi 19. kromozomun kısa kolunda yer alan düşük yoğunluklu lipoprotein(LDL) reseptör genindeki defekt sonucu lipoproteinlerin dolaşımdan yeteri kadar temizlenememesi ile ortaya çıkan otozomal dominant bir hastalıktır. Homozigot ve heterozigot tipleri mevcuttur. Homozigot tiplerde erken ateroskleroza bağlı 1. dekadda koroner lezyonlar ortaya çıkmakta ve tedavisiz hastalar genelde 20’li yaşlarda kaybedilmektedir. Familyal hiperkolesterolemi tanısından 6 ay sonra eforla göğüs ağrısı olan hasta kliniğimize başvurdu. Efor testi pozitif saptanan hastaya koroner anjiyografi yapıldı ve sol koroner arterde belirgin darlık saptandı. Hastamıza başarılı bir şekilde koroner bypass operasyonu yapıldı. Bu olgu hiperlipidemili hastalarda koroner lezyonların erken dönemde gelişebileceğine dikkat çekmek için sunulmuştur.

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Cite This Article

DEMİRCAN, T., KIZILCA, Ö., YILMAZ, N., ZİHNİ, C., ÖNCÜ, B., KIR, M., ÜNAL, N., UĞURLU, B. (2018). A 10-year-old child who underwent coronary artery bypass graft with the indication of familial hypercholesterolemia. İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi, Cilt: 8 - Sayı: 1, 69–71. https://ajindex.com/articles/196275

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