Severe aortic valve stenosis in a 14-year-old boy with sitosterolemia.
J Clin Lipidol
; 13(1): 49-53, 2019.
Article
em En
| MEDLINE
| ID: mdl-30528907
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aorta
/
Estenose da Valva Aórtica
/
Fitosteróis
/
Hipercolesterolemia
/
Enteropatias
/
Erros Inatos do Metabolismo Lipídico
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
J Clin Lipidol
Assunto da revista:
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
China