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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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| Published in: | Pediatric cardiology 2006-04, Vol.27 (2), p.282-285 |
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| Main Authors: | , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c404t-a17a42ff88bbee3251e993df5d6164b7165910e8608ab444705a6ed02348db943 |
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| cites | cdi_FETCH-LOGICAL-c404t-a17a42ff88bbee3251e993df5d6164b7165910e8608ab444705a6ed02348db943 |
| container_end_page | 285 |
| container_issue | 2 |
| container_start_page | 282 |
| container_title | Pediatric cardiology |
| container_volume | 27 |
| creator | Arora, G Fraser, C D Kearney, D L Vincent, J A |
| description | 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. |
| doi_str_mv | 10.1007/s00246-005-5809-0 |
| format | article |
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| fulltext | fulltext |
| identifier | ISSN: 0172-0643 |
| ispartof | Pediatric cardiology, 2006-04, Vol.27 (2), p.282-285 |
| issn | 0172-0643 1432-1971 |
| language | eng |
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| source | Springer Nature:Jisc Collections:Springer Nature Read and Publish 2023-2025: Springer Reading List |
| 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 |
| title | Severe supravalvar aortic stenosis in familial homozygous hypercholesterolemia |
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