Mustafa TUNCER, Hakkı ŞİMŞEK, Ali Hasan GÜMRÜKÇÜOĞLU, Beyhan ERYONUCU, Musa ŞAHİN

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

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. Klin Deney Ar Derg 2011; 2 (3): 308-311.

Heterozigot Ailevi Hiperkolesterolemide aort kapağı tutulumu ve erken koroner arter hastalığı

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. J Clin Exp Invest 2011; 2 (3): 308-311.

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