Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: Case report Ailesel hiperkolesterolemide supravalvüler aort darliǧi ve ostial koroner darlik: Vaka sunumu
Turk Kardiyoloji Dernegi Arsivi, cilt.32, sa.5, ss.331-334, 2004 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 32 Sayı: 5
- Basım Tarihi: 2004
- Dergi Adı: Turk Kardiyoloji Dernegi Arsivi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.331-334
- Anahtar Kelimeler: Familial hypercholesterolemia, Ostial coronary stenosis, Supravalvular aortic stenosis
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Familial hypercholesterolemia is an inherited metabolic disorder caused by a low-density-lipopotein (LDL) receptor abnormality that results in severe hypercholesterolemia which leads to the accumulation of LDL-derived cholesterol in skin, tendons and arterial walls. In familial hypercholesterolemia, especially the atheromatous plaquing on the aortic root is significant and results in supravalvular aortic stenosis and ostial stenosis of the coronary artery. These complications are fatal and occur in youth. They can be prevented by early diagnosis and accurate lipid-lowering treatment. We present a patient with familial hypercholesterolemia at the age of twenty one. He had xanthelasmas, arcus limbus and tendinous xanthomas. In addition to these lesions he also had valvular, supravalvular aortic stenosis and ostial coronary artery stenosis. Besides cholesterol lowering treatment, he underwent coronary artery bypass surgery and had an aortic valve replacement.