Genetics and genetic testing in congenital heart disease.
Clin Perinatol
; 42(2): 373-93, ix, 2015 Jun.
Article
en En
| MEDLINE
| ID: mdl-26042910
ABSTRACT
Congenital heart defects (CHDs) are structural abnormalities of the heart and great vessels that are present from birth. The presence or absence of extracardiac anomalies has historically been used to identify patients with possible monogenic, chromosomal, or teratogenic CHD causes. These distinctions remain clinically relevant, but it is increasingly clear that nonsyndromic CHDs can also be genetic. This article discusses key morphologic, molecular, and signaling mechanisms relevant to heart development, summarizes overall progress in molecular genetic analyses of CHDs, and provides current recommendations for clinical application of genetic testing.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Cardiopatías Congénitas
Tipo de estudio:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Límite:
Humans
/
Newborn
Idioma:
En
Revista:
Clin Perinatol
Año:
2015
Tipo del documento:
Article
País de afiliación:
Estados Unidos