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Gender differences in the prevalence of congenital heart disease in Down's syndrome: a brief meta-analysis

Tereza Cristina Pinheiro Diogenes1,2, Felipe Alves Mourato3,4,5, José Luiz de Lima Filho2

  • 1Círculo do Coração de Pernambuco, Recife, Pernambuco, Brazil.

BMC Medical Genetics
|October 8, 2017
PubMed

Insights

Congenital heart disease (CHD), especially atrioventricular septal defects, is more common in female patients with Down's syndrome (DS). This finding highlights gender as a potential factor in DS-associated heart conditions.

Area of Science:

  • Genetics and Developmental Biology
  • Cardiology
  • Pediatrics

Background:

  • Down's syndrome (DS) affects 1 in 700 live births.
  • Congenital heart disease (CHD) impacts 40-60% of individuals with DS.
  • The association between DS and CHD is complex, with gender being explored as a contributing factor.

Purpose of the Study:

  • To investigate the prevalence of CHD in Down's syndrome patients.
  • To determine if gender influences the occurrence of CHD in individuals with DS.
  • To identify specific CHD types that may be more prevalent in one gender.

Main Methods:

  • A meta-analysis was conducted on the prevalence of CHD in DS, stratified by gender.
  • Searches were performed across three databases, reviewing 578 articles.
  • Twelve relevant articles were included in the final analysis.

Main Results:

  • Quantitative analysis revealed a higher prevalence of CHD in female DS patients.
  • Atrioventricular septal defects (AVSD) were particularly more common in females.
  • No significant gender-based differences were observed in other forms of CHD.

Conclusions:

  • Congenital heart disease, especially AVSD, occurs more frequently in females with Down's syndrome.
  • Gender is a significant factor influencing CHD prevalence in the DS population.
  • Further research into gender-specific mechanisms is warranted.
Abstract

Keywords:
Congenital heart diseaseDownGenderMeta-analysisSystematic review

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