Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia.
ATP Binding Cassette Transporter, Subfamily G, Member 5
/ genetics
Adolescent
Aorta
/ diagnostic imaging
Aortic Valve Stenosis
/ diagnosis
Computed Tomography Angiography
Diet Therapy
Humans
Hypercholesterolemia
/ diagnosis
Intestinal Diseases
/ diagnosis
Lipid Metabolism, Inborn Errors
/ diagnosis
Lipoproteins
/ genetics
Male
Phenotype
Phytosterols
/ adverse effects
ABCG5
Aortic valve stenosis
Hypercholesterolemia
Sitosterolemia
Xanthoma
Journal
Journal of clinical lipidology
ISSN: 1933-2874
Titre abrégé: J Clin Lipidol
Pays: United States
ID NLM: 101300157
Informations de publication
Date de publication:
Historique:
received:
17
01
2018
revised:
08
11
2018
accepted:
08
11
2018
pubmed:
12
12
2018
medline:
6
5
2020
entrez:
12
12
2018
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30528907
pii: S1933-2874(18)30459-8
doi: 10.1016/j.jacl.2018.11.002
pii:
doi:
Substances chimiques
ABCG5 protein, human
0
ATP Binding Cassette Transporter, Subfamily G, Member 5
0
Lipoproteins
0
Phytosterols
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
49-53Informations de copyright
Copyright © 2018 National Lipid Association. Published by Elsevier Inc. All rights reserved.