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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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