Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis

被引：5

作者：

Prajapati, Rajpal ^{[1
]}

Agrawal, Vikas ^{[1
]}

机构：

[1] Banaras Hindu Univ, Inst Med Sci, Dept Cardiol, Varanasi, Uttar Pradesh, India

来源：

INDIAN HEART JOURNAL | 2018年 / 70卷 / 04期

关键词：

Xanthoma; Aortic stenosis; Hypercholesterolemia; Familial;

D O I：

10.1016/j.ihj.2018.01.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Premature malignant atherogenesis leading to aortic root abnormalities causing supravalvular aortic stenosis is rare. Our case demonstrates the diagnostic imaging findings of the phenotype of patients who have severe elevated LDL with familial hypercolesterolemia. (C) 2018 Published by Elsevier B.V. on behalf of Cardiological Society of India.

引用

页码：575 / 577

页数：3

共 11 条

[1]

Sprecher D.L., Schaefer E.J., Kent K.M., Et al., Cardiovascular feature of homozygous familial hypercholesterolemia: analysis of 16 patients, Am J Cardiol, 54, pp. 20-30, (1984)

[2]

Kolansky D.M., Cuchel M., Clark B.J., Et al., Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia, Am J Cardiol, 102, pp. 1438-1443, (2008)

[3]

Allen J.M., Thompson G.R., Myant N.B., Steiner R., Oakley C.M., Cardiovascular complication of homozygous familial hypercholesterolemia, Br Heart J, 44, pp. 361-368, (1980)

[4]

Keating M.T., Genetic approaches to cardiovascular disease: supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome, Circulation, 92, pp. 142-147, (1995)

[5]

Daniels S.R., Greer F.R., Committee on Nutrition. Lipid screening and cardiovascular health in childhood, Pediatrics, 122, 1, pp. 198-208, (2008)

[6]

Arambepola C., Farmer A.J., Perera R., Neil H.A., Statin treatment for children and adolescentswith heterozygous familial hypercholesterolemia: a systemic review and meta-analysis, Atherosclerosis, 195, 2, pp. 339-347, (2007)

[7]

Ballantyne C.M., Houri J., Notarbartolo A., Et al., Efffect of ezetimibe coadministered with atorvastatin in 628 patients with primary hypercholesterolemia: a prospective, randomized, double-blind trial, Circulation, 107, 19, pp. 2409-2415, (2003)

[8]

Ference B.A., Cannon C.P., Landmesser U., Et al., Reduction of low density lipoprotein–cholesterol and cardiovascular events with Proprotein Convertase Subtilisin–Kexin type 9 (PCSK9) inhibitors and statins: an analysis of FOURIER, SPIRE and the Cholesterol treatment trialists collaboration, Eur Heart J, August (14), (2017)

[9]

Orringer C.E., Jacobson T.A., Saseen J.J., Et al., Update on the use of PCSK9 inhibitors in adults: recommendations from an Expert Panel of the National Lipid Association, J Clin Lipodol, 11, 4, pp. 880-890, (2017)

[10]

Quinn D.W., Spinler S.A., Efficacy of statins in preventing progression of aortic stenosis, Am J Health Syst Pharm, 62, 9, pp. 979-981, (2005)

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