Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia

Yu Wang; Yuan-Lin Guo; Qiu-Ting Dong; Jian-Jun Li

doi:10.1016/j.jacl.2018.11.002

Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia

J Clin Lipidol. 2019 Jan-Feb;13(1):49-53. doi: 10.1016/j.jacl.2018.11.002. Epub 2018 Nov 14.

Authors

Yu Wang¹, Yuan-Lin Guo¹, Qiu-Ting Dong¹, Jian-Jun Li²

Affiliations

¹ Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
² Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address: lijianjun938@126.com.

PMID: 30528907
DOI: 10.1016/j.jacl.2018.11.002

Abstract

We report a 14-year-old boy finally diagnosed with sitosterolemia, presenting with severe aortic valve stenosis. Genetic analysis revealed homozygous null mutation c.1336 C > T (p.R446X) in ABCG5 gene. His cardiac ultrasound presented aortic valve stenosis and moderate aortic regurgitation. His whole aorta computed tomography angiogram scan revealed aortic stenosis superior to the aortic valve, followed by ascending aorta dilation, whereas his coronary and peripheral arteries appeared normal. His maximum total cholesterol and low-density lipoprotein-cholesterol levels dropped dramatically after diet control, and ezetimibe was prescribed for treatment. The current case indicated that sitosterolemia may be a heterogeneous disease in clinical phenotype.

Keywords: ABCG5; Aortic valve stenosis; Hypercholesterolemia; Sitosterolemia; Xanthoma.

Publication types

Case Reports

MeSH terms

ATP Binding Cassette Transporter, Subfamily G, Member 5 / genetics
Adolescent
Aorta / diagnostic imaging*
Aorta / pathology
Aortic Valve Stenosis / diagnosis*
Aortic Valve Stenosis / diet therapy
Aortic Valve Stenosis / genetics
Computed Tomography Angiography
Diet Therapy
Humans
Hypercholesterolemia / diagnosis*
Hypercholesterolemia / diet therapy
Hypercholesterolemia / genetics
Intestinal Diseases / diagnosis*
Intestinal Diseases / diet therapy
Intestinal Diseases / genetics
Lipid Metabolism, Inborn Errors / diagnosis*
Lipid Metabolism, Inborn Errors / diet therapy
Lipid Metabolism, Inborn Errors / genetics
Lipoproteins / genetics
Male
Phenotype
Phytosterols / adverse effects*
Phytosterols / genetics

Substances

ABCG5 protein, human
ATP Binding Cassette Transporter, Subfamily G, Member 5
Lipoproteins
Phytosterols

Supplementary concepts

Sitosterolemia