Genética y cardiopatías congénitas / Genetic and congenital heart defects

ABSTRACT

The understanding of the etiology of congenital heart disease is rapidly progressing from the recognition of embryologic origins to insight into the genetic basis for these disorders. Better understanding of the clinical implications of specific mutations should allow not only for more sensitive and specific diagnoses to be made but also for improvements in therapeutics options an efficacy. Mutations in the T-box transcription factor TBX5 cause Holt-Oram syndrome, an autosomal-dominant condition characterized by a familial history of congenital heart disease and upper limb defects. This review summarizes recent developments in the study of Holt-Oram Syndrome.