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Genetic and genomics in congenital heart disease: a clinical review

Aline Saliba1, Ana Carolina Vaqueiro Figueiredo2, José Eduardo Baroneza3

  • 1Universidade de Brasília, Programa de Pós-Graduação em Ciências da Saúde, Brasília, DF, Brazil; Secretaria de Saúde do Distrito Federal, Brasília, DF, Brazil; Instituto de Cardiologia do Distrito Federal, Brasília, DF, Brazil.

Jornal De Pediatria
|August 18, 2019
PubMed

Insights

Genetic factors play a significant role in congenital heart diseases (CHDs). Understanding these genetic alterations, including chromosomal and monogenic causes, is crucial for improved clinical management and prognosis.

Area of Science:

  • Cardiovascular Genetics
  • Developmental Biology

Background:

  • Congenital heart diseases (CHDs) are common birth defects affecting up to 1% of live births.
  • Historically, CHDs were viewed under a multifactorial model, with less emphasis on genetic contributions.
  • Recent shifts in understanding CHD epidemiology highlight the expanding significance of genetic factors.

Purpose of the Study:

  • To review evidence on the genetic basis of congenital heart diseases.
  • To discuss the role of chromosomal alterations and monogenic diseases in CHD etiology.
  • To explore the clinical implications of identifying genetic factors in CHD.

Main Methods:

  • Comprehensive literature search across LILACS, PubMed, MEDLINE, SciELO, and Google Scholar.
  • Inclusion of review articles, case reports, book chapters, master's theses, and doctoral dissertations.
  • Analysis of cited references from identified articles.

Main Results:

  • Evidence supports a substantial genetic contribution to CHD development.
  • Both chromosomal abnormalities and monogenic defects are implicated in various forms of CHD.
  • Genetic identification aids in understanding heart development and managing syndromic and non-syndromic CHDs.

Conclusions:

  • Knowledge of CHD etiology, particularly genetic alterations, is vital for clinical practice.
  • Understanding genetic factors aids in prognosis and anticipating complications.
  • Genetic insights offer valuable tools for the management of congenital heart defects.
Abstract

Keywords:
AneuploidiaAneuploidyCNVCNVsCongenital/epidemiologyCongênita/epidemiologiaDefeitos cardíacosEmbriologiaEmbryologyGenetic predisposition to diseaseHeart defectsPredisposição genética à doença

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