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Review
. 2022 Oct 6:13:1012665.
doi: 10.3389/fphys.2022.1012665. eCollection 2022.

Genetic insights into non-syndromic Tetralogy of Fallot

Nouf J Althali  1   2 , Kathryn E Hentges  1
Affiliations
Review

Genetic insights into non-syndromic Tetralogy of Fallot

Nouf J Althali et al. Front Physiol. .

Abstract

Congenital heart defects (CHD) include structural abnormalities of the heart or/and great vessels that are present at birth. CHD affects around 1% of all newborns worldwide. Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital cardiac abnormality, affecting three out of every 10,000 live infants with a prevalence rate of 5-10% of all congenital cardiac defects. The four hallmark characteristics of TOF are: right ventricular hypertrophy, pulmonary stenosis, ventricular septal defect, and overriding aorta. Approximately 20% of cases of TOF are associated with a known disease or chromosomal abnormality, with the remaining 80% of TOF cases being non-syndromic, with no known aetiology. Relatively few TOF patients have been studied, and little is known about critical causative genes for non-syndromic TOF. However, rare genetic variants have been identified as significant risk factors for CHD, and are likely to cause some cases of TOF. Therefore, this review aims to provide an update on well-characterized genes and the most recent variants identified for non-syndromic TOF.

Keywords: FLT4; NOTCH1; Tetralogy of Fallot; congenital heart disease; genetics; non-syndromic; transcription factors.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Tetralogy of Fallot features. A schematic representation of a heart with: Ventricular Septal Defect, Overriding Aorta, Pulmonary Stenosis and Right Ventricular Hypertrophy. Created with BioRender.com.
See this image and copyright information in PMC

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