Genetic and genomics in congenital heart disease: a clinical review

摘要: Abstract Objective Discuss evidence referring to the genetic role in congenital heart diseases, whether chromosomic alterations or monogenic diseases. Data source LILACS, PubMed, MEDLINE, SciELO, Google Scholar, and references of articles found. Review articles, case reports, book chapters, master’s theses, doctoral dissertations were included. Summary findings Congenital diseases are among most common type birth defects, afflicting up 1% liveborn. Traditionally, etiology was defined as a multifactorial model, with both external contribution, less recognized. Recently, however, natural evolution epidemiology change, identification factors has an expanding significance clinical surgical management syndromic non-syndromic providing tools for understanding development. Conclusions Concrete knowledge disease recognition may be helpful bedside management, defining prognosis anticipating complications.