Genetic and genomics in congenital heart disease: a clinical review

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 the articles found. Review articles, case reports, book chapters, master's theses, and doctoral dissertations were included.

Summary of findings

Congenital heart diseases are among the most common type of birth defects, afflicting up to 1% of the liveborn. Traditionally, the etiology was defined as a multifactorial model, with both genetic and external contribution, and the genetic role was less recognized. Recently, however, as the natural evolution and epidemiology of congenital heart diseases change, the identification of genetic factors has an expanding significance in the clinical and surgical management of syndromic or non‐syndromic heart defects, providing tools for the understanding of heart development.

Conclusions

Concrete knowledge of congenital heart disease etiology and recognition of the genetic alterations may be helpful in the bedside management, defining prognosis and anticipating complications.