Aortic valve involvement and premature coronary artery disease in Heterozygous Familial Hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by an elevation of LDL cholesterol concentration in plasma leading to deposition of excess LDL-derived cholesterol in tendons, skin and arteries. We studied a 34 year old woman who applied to dermatology department due to multiple xanthomas. Cardiac consulting was demanded by dermatology department to determine development of atherosclerosis. Patient had no risk factor and symptom related to cardiac problem, except family history included premature coronary artery disease (CAD). On examination systolic murmur was present in aortic area. Echocardiography showed valvular severe aortic stenosis with a good left ventricle systolic function and severe left ventricular hypertrophy. The coronary arteriogram showed widespread CAD involving 3 coronary vessels. We report a case of heterozygous FH type II a with premature CAD and aortic valve involvement.

Keywords

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Heterozigot Ailevi Hiperkolesterolemide aort kapağı tutulumu ve erken koroner arter hastalığı

Abstract

Ailesel hiperkolesterolemi (AH) arterlerde, ciltte ve tendonlarda aşırı kolesterol birikimine yol açan plazma kolesterol yüksekliği ile karakterize otozomal dominant bir hastalıktır. Multipl ksantomlar nedeniyle cildiye polikliniğine başvuran 34 yaşında bayan hasta için aterosklerotik hastalık açısından kardiyoloji konsültasyonu istendi. Hastanın herhangi bir kardiyak şikayeti yoktu. Koroner arter hastalığı (KAH) açısından risk faktörü olarak ailede erken KAH öyküsü mevcuttu. Fizik muayenede aort odakta 3/6 sistolik üfürüm saptandı. Yapılan ekokardiyografide ciddi aort darlığı saptandı. Yapılan koroner anjiografide 3 koroner damarın etkilendiği yaygın KAH saptandı. Biz bu yazıda aort kapak tututulumu ve erken yaşta KAH nın eşlik ettiği heterozigos AH vakasını sunduk.

Keywords

• Aort stenozu, koroner arter hastalığı, heterozigoz ailesel hiperlipidemi

References

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholes- terolemia. In: The Metabolic Basis of Inherited Disease. 8th
2. as well as the aorta and coronary vessels, resulting Ed, by Scriver CR, Beaudet AL, Sly WS, Vale I, McGraw- Hill. New York, USA. pp 2863-2913, 2001.
3. Mabuchi H, Tatami R, Haba T, et al. Homozygous familial hypercholesterolemia in Japan. Am J Med 1978;65(2):290- 97
4. Cliveria F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclero- sis 2004;173(1): 55-68.
5. Mabuchi H, Miyamoto S, Ueda K, et al. Causes of death in patients with familial hypercholesterolemia. Atherosclero- sis 1986;61(1):1-6.
6. Rossebo AB, Pedersen TR. Hyperlipidaemia and aortic valve disease. Curr Opin Lipidol 2004; 15(4): 447-51.
7. Austin MA, Hutter CM, Zimmern RL, et al. Familial hyper- cholesterolemia and coronary heart disease: a HuGE asso- ciation review. Am J Epidemiol 2004;160(4):421-9.
8. Miettinen TA, and Gylling H. Mortality and cholesterol me- tabolism in familial hypercholesterolemia. Long-term fol- low-up of 96 patients. Atherosclerosis 1988;8(2): 163-6.

9. George Y, Jian W, Robert A. Hegele. Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ 2006;174(11):1124-9.
10. Kawaguchi A, Yutani C, and Yamamoto A: Hypercholester- olemic valvulopathy: an aspect of malignant atherosclero- sis. Ther Apher Dial 2003;7(4): 439-43.
11. Weyman AE. Exploring the relationship between hyper- lipidemia and aortic stenosis. Rev Cardiovasc Med 2002;3: 160-1.