Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.
Cardiol Young
; 24(4): 735-8, 2014 Aug.
Article
en En
| MEDLINE
| ID: mdl-23930893
ABSTRACT
We describe a case of neonatal Marfan syndrome diagnosed because of a family history, dysmorphic features, and cardiac abnormality. The echocardiogram showed aortic root dilatation. Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and father. The infant was treated with losartan, which significantly slowed the rate of enlargement of the aorta.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Aorta
/
Síndrome de Marfan
/
Proteínas de Microfilamentos
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Cardiol Young
Asunto de la revista:
ANGIOLOGIA
/
CARDIOLOGIA
/
PEDIATRIA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Estados Unidos