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

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

1. Nemati MH, Astaneh B, Joubeh A. Triple coronary artery bypass graft in a 10–year-old child with familial hypercholes- terolemia. Gen Thorac Cardiovasc Surg 2009;57:94-7.
2. Kawasuji M, Sakakibara N, Takemura H, Matsumoto Y, Mabuchi H, Watanabe Y. Coronary artery bypass grafting in familial hypercholesterolemia. J Thorac Cardiovasc Surg 1995;109:364-9.
3. Civeira F, Castillo S, Alonso R, Merino-İbarra E, Cenarro A, Artied M, et al; Spanish Familial Hypercholesterolemia Group. Tendon xanthomas in familial hypercholesterolemia are asso- ciated with cardiovascular risk independently of the low-den- sity lipoprotein receptor gene mutation. Aterioscler Thromb Vas Biol 2005; 25:1960-5.
4. Berenson GS, Srinivasan SR, Bao W, Newman WP, Tra- cy RE, Wattigney WA. Association between multiple cardi- ovascular risk factors and atherosclerosis in children and young adults. The Bogalusa Heart study. N Engl J Med 1998;338:1650-6.
5. Bhan A, Swain S, Juneja R, Saxena P, Venugopal P. To- tal arterial revascularization in a child with familial homozy- gous hypercholesterolemia. J Thorac Cardiovasc Surg 2005; 129:932-4.
6. Kawaguchi A, Miyatake K, Yutani C, Beppu S, Tsushima M, Yamamura T, et al. Characteristic cardiovascular manifestati- on in homozygous and heterozygous familial hypercholeste- rolemia. Am Heart J 1999;137:410-8.
7. Klein JM, Drobinski G, Bruckert E, Dairou F, Thomas D, De Gennes JL, et al. Results of serial coronary angiography in patients with homozygous familial hypercholesterolemia. Eur Heart J 1988; 9;1067-73.
8. Barr DP, Rothbard S , Eder HA. Atherosclerosis and aor- tic stenosis in hypercholesteremic xanthomatosis. JAMA 1954;156:943-7.

9. Weglicki WB , Ganda OP, Soeldner JS, Murawski BJ, Cohn LH, Couch NP. Portacaval diversion for severe hypercholeste- rolemia. Report of a case with measurements of glucose tole- rance, insulin and glucagon levels. Arch Surg 1977;112:634-6. 10. Zweiner RJ , Uauy R, Petruska ML, Huet BA. Low-density lipoprotein apheresis as long-term treatment for children with homozygous familial hypercholesterolemia. J Pediatr 1995; 126(5 Pt 1):728-35.
10. Mehan VK, Salzmann C, Pfammatter JP, Stocker FP, Meier B. Left main coronary angioplasty in a ten-year-old boy with homozygous familial hypercholesterolemia . Cathet Cardio