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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 (upper panels). The cutaneous lesions were suggestive of tuberous xanthomas. The child was evaluated and found to have severe dyslipidaemia. An echocardiogram done at that time showed the valves and chambers were normal. This patient satisfied the criteria for the diagnosis of familial hypercholesterolaemia (FH).
The child, who was lost to follow up, presented three and half years later with a cardiac murmur. Echocardiographic evaluation found the child having severe aortic valvar stenosis with a peak gradient of 118 mm Hg and mild aortic regurgitation (lower panel). The aortic wall near the valve was thickened and echogenic. There was no supravalvar narrowing. He had high concentrations of total and low density lipoprotein cholesterol, while high density lipoprotein cholesterol and triglyceride values were normal. His parents were not willing for him to undergo further evaluation and management. Aortic valvar gradients in familial hypercholesterolaemia are usually caused by supravalvar narrowing. Pure valvar aortic stenosis is rare in FH, especially in young children.
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