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A young male child with familial hypercholesterolaemia developed rare, severe pure valvar aortic stenosis with a peak gradient of 118 mm Hg over a 3.5-year period.
Case Report (n=1)
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This case highlights the rare presentation of severe valvar aortic stenosis in a very young child with familial hypercholesterolaemia.
A 2 year old male child, born of second degree consanguineous marriage, presented with multiple, nodular, raised, firm, yellowish cutaneous swellings, each 1–2 cm in size, over the knees, elbows, ankles, buttocks, and the extensor aspect of wrist and hands …
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Harikrishnan et al. (2004) conducted a case report in Familial hypercholesterolaemia (n=1). A young male child with familial hypercholesterolaemia developed rare, severe pure valvar aortic stenosis with a peak gradient of 118 mm Hg over a 3.5-year period.
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