Surgical Treatment Of 13-Year-Old Patient With Coronary Artery Disease And Supravalvular Aortic Stenosis, With Familial Hypercholesterolemia

Yıl 2011, Cilt: 14 Sayı: 3, 89 - 92, 01.03.2010

Emrah Oğuz Fatih Ayık Mirali Mecidov Yüksel Atay

Öz

Familial hypercholesterolemia is a genetic disorder caused by a mutation in low density lipoprotein (LDL) receptor gene. The homozygous type of the disease is rare and causes tendon xanthomas and coronary artery disease during the early years of life. Because of that, some of these patients needs early coronary revascularization. We presented 13-year- old patient who underwent coronary artery bypass graft due to familial hyper- cholesterolemia and repair of supravalvular aortic stenosis at the same time.

Anahtar Kelimeler

Familial hypercholesterolemia, coronary artery disease, supravalvular aortic stenosis

Homozigot Ailesel Hiperkolesterolemili Onüç Yaşındaki Hastada Koroner Arter Hastalığı ve Supravalvuler Aort Darlığının Cerrahi Tedavisi

Öz

Ailesel hiperkolesterolemi, düşük yoğunluklu lipoprotein (LDL) reseptör geninde olan mutasyon nedeniyle yüksek kolesterol seviyeleri ile seyreden genetik bir hastalıktır. Nadir olarak görülen bu hastalık otozomal dominant olarak geçer. Bu hastalarda yüksek plazma kolesterol seviyeleri nedeniyle hızlı ateroskleroz gelişimi görülür ve bu da tendon ve cilt ksantomları, erken yaşta koroner arter hastalığı ve aterosklerotik aort oluşumuna neden olur. Bu yüzden bu hastalara çocukluk çağında bile koroner arter baypas greft ameliyatları yapmak gerekebilmektedir. Bu yazıda ailesel hiperkolesterolemiye bağlı koroner arter hastalığı ve aynı zamanda supravalvuler aort stenozu nedeniyle opere edilen 13 yaşındaki bir olgu sunulmaktadır.

Anahtar Kelimeler

Ailesel hiperkolesterolemi, koroner arter hastalığı, supravalvüler aort darlığı

Kaynakça

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