Aktuğlu Çiğdem ZEYBEK, Cenap ZEYBEK, Ahmet ÇELEBİ, Mehmet Salih BİLAL, Yalım YALÇIN

Çocukluk çağındaki koroner "by pass" cerrahisi gerektiren ailevi hiperkolesterolemi olgusu

Ailevi hiperkolesterolemi otozomal baskın (dominan) geçişli bir dislipidemi olup erken koroner arter hastalığı nedenidir. 12 yaşındaki ailesel hiperkolesterolemi olgusu son altı ayda ortaya çıkan göğüs ağnsı ve senkop nedeniyle başvurdu. Ekokardiyografik incelemesinde, çıkan aortada aort kapağının hemen üzerinde başlayan, yanmay şeklinde her iki koroner arter ostiyumunu daralttığı izlenimi alınan ve aterom plağı olabileceği düşünülen hiperekojen bir yapı görüldü. Koroner anjiyografide sol ana koroner arterde %40, sağ koroner arter ostiyumunda %95, sol ön inen arterde %80, sirkumfleks arterin proksimalinde %50 darlık saptandı. Bu bulgularla, koroner "by-pass" yapıldı. Ailesel hiperlipidemi olgularında erken koroner arter hastalığı riski yüksektir. Bu nedenle iskemik yakınmalan olan bu hastalara koroner anjiyografi yapılması yararlıdır.

A case of familial hypercholesterolemia that necessitated coronary by-pass surgery in childhood

Familial hypercholesterolemia is an autosomal dominant dyslipidemia, causing premature coronary artery disease. A 12- year-old girl with complaints of chest pain and syncope during the last six months was referred for cardiac evaluation. Echocardiographic examination revealed a hyperechogenic crescentic mass in the ascending aorta (wich was thought to be an atheroma) just above the aortic valve narrowing both coronary ostia. Coronary angiography showed 40% stenosis in the left main coronary artery, 80% stenosis in the left anterior descending artery, 95% stenosis in the ostium of the right coronary artery and 50% stenosis in the proximal part of the circumflex artery. She underwent a coronary artery by-pass grafting operation. The risk of premature coronary artery disease is high in familial hypercholesterolemia. Therefore, coronary angiography is useful in those patients who have ischemic symptoms.

PDF

___

1. Berenson GS, Srinivasan SR, Bao W, Newman WP, Tracy RE, Wattigney WA. Association between multiple cardiovascular risk factors and atherosclerosis in children and young adults. The Bogalusa Heart study. N Engl J Med 1998; 338: 1650-6.
2. Humphries SE, Mailly F, Gudnason V, Talmud P. The molecular genetics of pediatric lipid disorders: recent progress and future research directions.-Pediatr Res 1993; 34: 403-15.
3. Kawaguchi A, Miyatake K, Yutani C, et al. Characteristic cardiovascular manifestation in homozygous and heterozygous familial hypercholesterolaemia. Am Heart J 1999; 137:410-8.
4. Klein JM, Drobinski G, Bruckert E, Dairou F, Thomas D. Results of serial coronary angiography in patients with homozygous familial hypercholesterolaemia. Eur Heart J 1988; 9: 1067- 73.
5. Allen JM, Thompson GR, Myant NB, Steiner R, Oakley CM. Cardiovascular complications of homozygous familial hypercholesterolaemia. Br Heart J 1980; 44: 361- 8.
6. Zweiner RJ, Uauy R, Petruska ML, Huet BA. Low-density lipoprotein apheresis as long-term treatment for children with homozygous familial hypercholesterolaemia. J Pediatr 1995; 126:728-35.
7. Mehan VK, Salzmann C, Pfammatter JP, Stacker FP, Meier B. Left main coronary angioplasty in a ten year old boy with homozygous familial hypercholesterolaemia. Cathet Cardiovasc Diagn 1993; 29: 24- 7.
8. Pfammatter JP, Stacker FP, Oetliker O, Wiesmann U, Meier B. Familial hypercholesterolaemia with severe cardiac involvement in a boy: successful management and mid-term follow-up. Acta Paediatr 1996; 85: 254- 7.