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Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A

Carolina Putotto1, Marco Masci2, Monia Magliozzi3

  • 1Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.

Birth Defects Research
|July 8, 2024
PubMed

Insights

Genetic variants in GDF1 and NOTCH1 may predispose infants to congenital heart defects like atrioventricular canal defect and aortic coarctation. This suggests oligogenic inheritance plays a role in these complex conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Developmental Biology

Background:

  • Partial or complete atrioventricular canal defect (AVC) can present with left-sided obstructions, including right ventricular dominance and aortic coarctation.
  • While associated with genetic syndromes, the molecular basis of nonsyndromic AVC with aortic coarctation remains unclear.
  • Oligogenic inheritance, involving multiple gene variants, is hypothesized for some nonsyndromic AVC cases.

Observation:

  • A case of a nonsyndromic infant with mesocardia, situs solitus, partial AVC, right ventricular dominance, and aortic coarctation is presented.
  • Next-generation sequencing identified variants in GDF1 and NOTCH1 genes.
  • GDF1 variants are linked to AVC, while NOTCH1 variants are associated with left-sided obstructive lesions.

Findings:

  • The infant harbored variants in both GDF1 and NOTCH1.
  • These genetic findings align with the patient's complex congenital heart defect presentation.
  • This case supports the role of combined genetic variants in specific congenital heart defects.

Implications:

  • The co-occurrence of multiple genetic variants may represent a predisposing risk factor for specific congenital heart defects.
  • Understanding oligogenic inheritance patterns is crucial for diagnosing and managing complex congenital heart diseases.
  • Further research into gene-gene interactions is warranted for nonsyndromic AVC and related left-sided obstructions.
Abstract

Keywords:
GDF1NOTCH1aortic coarctationatrioventricular canal defectcongenital heart defect

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