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Genetic insights into non-syndromic Tetralogy of Fallot

Nouf J Althali1,2, Kathryn E Hentges1

  • 1Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom.

Frontiers in Physiology
|October 24, 2022
PubMed

Insights

This review updates knowledge on genes linked to Tetralogy of Fallot (TOF), a common congenital heart defect. Understanding these genetic factors is crucial for diagnosing and treating non-syndromic TOF.

Area of Science:

  • Cardiovascular Genetics
  • Pediatric Cardiology
  • Congenital Heart Disease Research

Background:

  • Congenital heart defects (CHD) are structural abnormalities present at birth, affecting about 1% of newborns globally.
  • Tetralogy of Fallot (TOF) is the most common cyanotic CHD, occurring in 3 in 10,000 live births and accounting for 5-10% of all CHDs.
  • While 20% of TOF cases are linked to known genetic conditions, the etiology of the remaining 80% (non-syndromic TOF) remains largely unknown.

Purpose of the Study:

  • To provide an updated review of well-characterized genes associated with non-syndromic Tetralogy of Fallot.
  • To highlight recent genetic variants identified as significant risk factors for non-syndromic TOF.
  • To address the knowledge gap regarding causative genes in non-syndromic TOF.

Main Methods:

  • Literature review of existing studies on genetic variants in congenital heart defects.
  • Analysis of recent research identifying genes and variants implicated in non-syndromic Tetralogy of Fallot.
  • Synthesis of current understanding of genetic factors contributing to TOF etiology.

Main Results:

  • Rare genetic variants are increasingly recognized as significant contributors to CHD, including TOF.
  • Specific genes and novel variants have been identified in studies of non-syndromic TOF patients.
  • The genetic landscape of non-syndromic TOF is complex, involving multiple genes and variants.

Conclusions:

  • Genetic factors play a critical role in the development of non-syndromic Tetralogy of Fallot.
  • Continued research into genetic variants is essential for improving diagnosis and understanding the pathogenesis of TOF.
  • Identifying causative genes for non-syndromic TOF will aid in risk assessment and potential therapeutic strategies.

Keywords:
FLT4NOTCH1Tetralogy of Fallotcongenital heart diseasegeneticsnon-syndromictranscription factors

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