Vol 12, No 4 (2017)
Case report
Published online: 2016-09-14
Isolated severe aortic stenosis in a tricuspid aortic valve in a 8-year-old boy
Folia Cardiologica 2017;12(4):375-377.
Abstract
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.
Keywords: heterozygous FHrheumatictricuspid aortic valvexanthomatous lesions
References
- Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis. 1999; 142(1): 105–112.
- Neil HA, Hammond T, Huxley R, et al. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ. 2000; 321(7254): 148.
- Kawaguchi A, Yutani C, Yamamoto A. Hypercholesterolemic valvulopathy: an aspect of malignant atherosclerosis. Ther Apher Dial. 2003; 7(4): 439–443.
- Weyman AE. Exploring the relationship between hyperlipidemia and aortic stenosis. Rev Cardiovasc Med. 2002; 3(3): 160–161.