Homozygous familial hypercholestrolaemia presents with supravalvular aortic stenosis

Homozygous Familial Hypercholestrolaemia is a metabolic disorder which usually presents with early cardiac disease ranging from premature ischaemic heart disease, including myocardial infarction to aortic root stenosis, but rarely it may present with earlier anginal symptoms due to supravalvular aor...

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Bibliographic Details
Published in:Journal of the Pakistan Medical Association 2012-06, Vol.62 (6), p.612-614
Main Authors: Qaiser, Sharoon, Sheikh, Sidrah, Malik, Muhammad Shoaib
Format: Article
Language:English
Subjects:
Adolescent
Aortic Stenosis, Supravalvular - complications
Aortic Stenosis, Supravalvular - diagnosis
Aortic valve stenosis
Diagnosis
Diagnosis, Differential
Echocardiography
Humans
Hypercholesterolemia
Hyperlipoproteinemia Type II - complications
Hyperlipoproteinemia Type II - diagnosis
Hyperlipoproteinemia Type II - therapy
Male
Tomography, X-Ray Computed
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Summary:Homozygous Familial Hypercholestrolaemia is a metabolic disorder which usually presents with early cardiac disease ranging from premature ischaemic heart disease, including myocardial infarction to aortic root stenosis, but rarely it may present with earlier anginal symptoms due to supravalvular aortic stenosis. A 17-year old South Asian boy presented himself with chest pain associated with mild to moderate exercise. He was diagnosed as a case of Homozygous Familial Hypercholestrolaemia. His anginal symptoms were due to an underlying supravalvular aortic stenosis lesion which is a rare presentation of Homozygous Familial Hypercholestrolaemia.
ISSN:0030-9982