Key result
Heterozygous familial hypercholesterolemia manifests as rare severe aortic stenosis in an 8-year-old child.
Why the study?
Severe aortic stenosis in a morphologically normal tricuspid aortic valve is a rare complication of heterozygous familial hypercholesterolemia.
Case Report (n=1)
Answers are grounded in this paper and cite their sources.
Highlights that severe aortic stenosis can occur in a morphologically normal tricuspid aortic valve as a rare complication of heterozygous familial hypercholesterolemia in children.
A 8-year-old boy was referred for evaluation of ejection systolic murmur. On examination multiple xanthomas and xanthelesmas were noted. Investigations confirmed familial hypercholesterolemia and severe aortic stenosis in background of tricuspid aortic valve. We report a case of severe aortic stenosis in background of morphologically normal valve, a rare complication of heterozygous familial hypercholesterolaemia.
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Sinha et al. (2016) conducted a case report in Severe aortic stenosis and heterozygous familial hypercholesterolemia (n=1). Heterozygous familial hypercholesterolemia was evaluated. An 8-year-old boy with heterozygous familial hypercholesterolemia presented with isolated severe aortic stenosis in a morphologically normal tricuspid aortic valve, a rare complication.
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