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Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
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Human Genetics of Congenital Heart Defects

Anna Wilsdon1,2, Siobhan Loughna3

  • 1School of Life Sciences, University of Nottingham, Nottingham, UK. anna.wilsdon1@nhs.net.

Advances in Experimental Medicine and Biology
|June 17, 2024
PubMed

Insights

Congenital heart diseases (CHDs) are birth defects affecting the heart and blood vessels. This review explores the known genetic factors contributing to these complex conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Developmental Biology

Background:

  • Congenital heart diseases (CHDs) encompass a spectrum of structural abnormalities present at birth.
  • These defects range from minor issues needing no treatment to severe conditions requiring early surgical intervention.

Purpose of the Study:

  • To review the current understanding of the genetic underpinnings of congenital heart diseases.
  • To consolidate knowledge on the genetic etiology of CHDs for researchers and clinicians.

Main Methods:

  • Literature review of existing research on CHD genetics.
  • Synthesis of data from genetic studies, including family studies and population-based research.

Main Results:

  • Identification of numerous genetic factors implicated in CHD development.
  • Understanding of the complex interplay between genetic mutations and environmental influences.

Conclusions:

  • Genetic factors play a significant role in the etiology of congenital heart diseases.
  • Further research into CHD genetics is crucial for improved diagnosis and treatment strategies.

Keywords:
Congenital heart defectsCongenital heart diseaseExome sequencingGeneticsGenome sequencingInheritedLife spanPediatric cardiologyReduced penetranceScreening

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