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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
|November 17, 2025
PubMed

Insights

This study found a higher genetic burden in patients with congenital heart defects affecting heart valves and chambers. These findings highlight a strong genetic predisposition for these complex cardiac malformations.

Area of Science:

  • Cardiovascular Genetics
  • Developmental Biology
  • Medical Genomics

Background:

  • Congenital heart disease (CHD) is a common birth defect with complex genetic and environmental causes.
  • Congenital anomalies of the atrioventricular valve or septum (CAAVAS) and functionally univentricular heart (FUH) are severe CHD subtypes.
  • Understanding the genetic factors contributing to CAAVAS and FUH is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate the genetic burden in patients with CAAVAS or FUH.
  • To identify specific gene variants associated with these congenital heart anomalies.
  • To assess the role of genetic predisposition in the etiology of CAAVAS and FUH.

Main Methods:

  • Case-control study with 24 patients and 24 healthy controls.
  • Whole-exome sequencing (WES) to analyze genetic variations.
  • Evaluation of minor allele frequencies (MAF) using gnomAD and REVEL scores for variant impact.
  • Secondary filtration focused on 349 genes related to heart valve morphology (HPO:0001654).

Main Results:

  • Patients with CAAVAS or FUH showed a significantly higher median number of common genetic variants compared to controls (p=0.035).
  • Identified variants in genes encoding contractile proteins (MYH3, ACTC1), extracellular matrix proteins (FBN1, FREM1, HSPG2), and signaling proteins (TGFB2, CCDC22).
  • Variants were also found in genes related to ciliary function (EVC2, PKD1L1), enzymes (POLG, DNASE1L3), and transcription factors (NKX2-5, NONO).

Conclusions:

  • There is a significant role of genetic burden and specific gene variants in congenital mitral and tricuspid valve anomalies.
  • Findings support a strong genetic predisposition underlying CAAVAS and FUH.
  • Increased genetic burden in affected individuals underscores the genetic component of these heart malformations.

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

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