Severe supravalvar aortic stenosis in familial homozygous hypercholesterolemia

Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations. Patients often present with cutaneous xanthomas, particularly in the Achilles' tendon. They may have significant cardiovascular involvement, including premature atherosclerotic coronary artery diseas...

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Bibliographic Details
Published in:Pediatric cardiology 2006-04, Vol.27 (2), p.282-285
Main Authors: Arora, G, Fraser, C D, Kearney, D L, Vincent, J A
Format: Article
Language:English
Subjects:
Aortic Stenosis, Supravalvular - etiology
Aortic Stenosis, Supravalvular - pathology
Aortic Stenosis, Supravalvular - surgery
Aortic valve stenosis
Atherosclerosis - etiology
Atherosclerosis - pathology
Atherosclerosis - surgery
Case studies
Child, Preschool
Disease Progression
Echocardiography
Humans
Hypercholesterolemia
Hyperlipoproteinemia Type II - complications
Hyperlipoproteinemia Type II - therapy
Male
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Description
Summary:Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations. Patients often present with cutaneous xanthomas, particularly in the Achilles' tendon. They may have significant cardiovascular involvement, including premature atherosclerotic coronary artery disease and valvar and supravalvar aortic stenosis. Standard therapy includes diet modulation, pharmacotherapy, and lipid apheresis. Rarely, patients require surgical intervention for coronary artery bypass grafting and/or relief of the aortic stenosis. We present the case of a patient with severe progressive supravalvar aortic stenosis that ultimately required surgical resection despite aggressive medical therapy.
ISSN:0172-0643
1432-1971
DOI:10.1007/s00246-005-5809-0