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Valvular and supravalvular aortic stenosis in heterozygous familial hypercholesterolemia, a case report

Kiyoshi Ozumi1, Hiromi Tasaki, Kazuhiko Yamashita

  • 1Second Department of Internal Medicine, University of Occupational and Environmental Health, School of Medicine, Iseigaoka 1-1, Yahatanishiku, Kitakyushu, Fukuoka 807-8555, Japan.

Journal of Atherosclerosis and Thrombosis
|October 6, 2005
PubMed

Insights

Familial hypercholesterolemia (FH) can cause severe aortic stenosis, a rare complication. This case highlights aortic valve replacement as a treatment for FH patients with valvular and supravalvular aortic stenosis.

Area of Science:

  • Cardiology
  • Genetics
  • Vascular Biology

Background:

  • Familial hypercholesterolemia (FH) is an inherited disorder causing high LDL-cholesterol and premature atherosclerosis.
  • Heterozygous FH (HeFH) presents a significant risk for cardiovascular complications.
  • Aortic stenosis is a known, though less common, manifestation of severe hypercholesterolemia.

Observation:

  • A 64-year-old woman with HeFH presented with chest pain and dyspnea.
  • Coronary angiography showed no significant coronary artery stenosis.
  • Severe valvular and supravalvular aortic stenosis of the ascending aorta was identified.

Findings:

  • The patient underwent aortic valve replacement for severe aortic stenosis.
  • Coronary flow studies revealed functional ischemia and reduced coronary flow reserve.
  • This case illustrates a rare complication of HeFH involving aortic valve and supravalvular stenosis.

Implications:

  • Aortic valve replacement can be a necessary intervention for FH patients with severe aortic stenosis.
  • Early recognition and management of aortic complications in FH are crucial.
  • This case expands understanding of the vascular manifestations of familial hypercholesterolemia.

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