Homozygote form of the familial hypercholesterolemia with valvar aortic stenosis

A. Nemeth, T. Szamosi, E. Horvath, J. Szabolcs, C. C. Kurer, A. Csaszar, A. Nemeth

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Two cases of rapidly progressive aortic stenosis in association with type II hyperlipidemias are presented. The first patient is a Hungarian male whose valvar aortic stenosis was detected at 5 years of age. He was examined because of xanthomatous skin lesions and familial hypercholesterolemia homozygous form was diagnosed. At 10 years of age an atherosclerotic plaque was removed from the orifice of the left coronary artery. After surgery, the patient was treated with low density lipoprotein (LDL) plasmapheresis to lower his serum cholesterol, however, due to progressive aortic stenosis surgical intervention was necessary one year later. This was followed by regular plasmapheresis with the heparin indicated extracorporeal LDL- Cholesterol precipitation (HELP) system. The second patient is an American female who was noted to have a markedly elevated serum cholesterol level at 8 years of age. Work-up revealed the diagnosis of type lib hyperlipoproteinemia homozygous form. At age 12 years a systolic murmur was detected and valvar aortic stenosis of moderate severity was diagnosed. Thirteen months later she developed exertional symptoms and underwent open aortic valve commisurotomy. The authors present these cases because of the unusual association of both diaseases, as just a single such case has been reported previously.

Original languageEnglish
Pages (from-to)106-109
Number of pages4
JournalInternational Pediatrics
Issue number2
Publication statusPublished - 2000


  • Aortic valve disease
  • Atherosclerosis
  • Familial hypercholesterolemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Nemeth, A., Szamosi, T., Horvath, E., Szabolcs, J., Kurer, C. C., Csaszar, A., & Nemeth, A. (2000). Homozygote form of the familial hypercholesterolemia with valvar aortic stenosis. International Pediatrics, 15(2), 106-109.