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Vol. 53. Núm. 1.
Páginas 30-39 (julio 2000)
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Vol. 53. Núm. 1.
Páginas 30-39 (julio 2000)
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Genética de las cardiopatías congénitas
Congenital heart malformations
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14541
M. Moreno García
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mmoreno@tdi.es

Correspondencia: Servicio de Genética. Hospital 12 de Octubre.Edificio Materno-Infantil 2.a planta B. Carretera de Andalucía, km 5,4. 28041 Madrid.
, M.J. Gómez Rodríguez, E. Barreiro Miranda
Servicio de Genética. Hospital 12 de Octubre. Madrid
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Las cardiopatías son las malformaciones congénitas más frecuentes, afectan al 0,5-1% de los recién nacidos vivos. Una parte son de origen genético. Se han visto patrones de herencia autosómica dominante, autosómica recesiva, herencia ligada al cromosoma X y herencia mitocondrial. Pueden ser también causadas por anomalías cromosómicas. Se han identificado varios genes responsables de cardiopatías congénitas. En este artículo revisamos el estado actual de conocimiento de las cardiopatías congénitas de origen genético.

Palabras clave:
Cardiopatías congénitas
Genética
Etiología

Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

Key words:
Congenital heart malformations
Genetics
Etiology
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