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Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study

Felix-Julian Campos-Garcia1,2,3,4, Addy-Manuela Castillo-Espinola5, Carolina-Elizabeth Medina-Escobedo2

  • 1Doctoral Program in Medical Sciences, National Autonomous University of Mexico, Mexico City, Mexico.

Pediatric Cardiology
|January 24, 2026
PubMed

Insights

Individuals with congenital heart defects, specifically atrioventricular valve anomalies and univentricular hearts, exhibit a higher genetic burden. This study found more common genetic variants in affected patients, highlighting a strong genetic predisposition for these complex heart conditions.

Area of Science:

  • Cardiovascular Genetics
  • Developmental Biology
  • Human Genetics

Background:

  • Congenital heart disease (CHD) is the most common birth defect, often multifactorial with genetic and environmental influences.
  • Congenital anomalies of the atrioventricular valve or septum (CAAVAS) and functionally univentricular heart (FUH) are complex CHD subtypes linked to molecular pathway disruptions.

Purpose of the Study:

  • To investigate the genetic burden contributing to CAAVAS and FUH.
  • To identify specific genetic variants associated with these congenital heart anomalies.

Main Methods:

  • Case-control study with 24 patients (CAAVAS/FUH) and 24 healthy controls.
  • Whole-exome sequencing (WES) to evaluate genetic burden using gnomAD MAF and REVEL scores.
  • Secondary filtration focused on 349 HPO-defined heart valve morphology genes.

Main Results:

  • Significantly higher median number of common variants in the case group compared to controls (p=0.035).
  • Identified variants in genes encoding contractile proteins (MYH3, ACTC1), ECM proteins (FBN1), ciliary proteins (EVC2), enzymes (POLG), signaling proteins (TGFB2), and transcription factors (NKX2-5).

Conclusions:

  • Increased genetic burden and specific gene variants are significantly associated with CAAVAS and FUH.
  • Findings reinforce a strong genetic predisposition for congenital mitral and tricuspid valve anomalies.

Keywords:
Congenital anomalies of the atrioventricular valve or septumCongenital heart diseaseFunctionally univentricular heartWhole exome sequencing

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