title: Homozygous familial hypercholestrolaemia presents with supravalvular aortic stenosis.
abstract: 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.
authors: Department of Internal Medicine, Sir Ganga Ram Hospital, FJMC, Lahore, Pakistan.
authors: Sharoon
authors: S
authors: Qaiser
authors: Sidrah
authors: S
authors: Sheikh
authors: Muhammad Shoaib
authors: MS
authors: Malik
mesh_terms: D000293:Adolescent; D021921:Aortic Stenosis, Supravalvular / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004452:Echocardiography; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D014057:Tomography, X-Ray Computed