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Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants

Helen M Stanley1, Brian R White1, Christopher J LaRosa2

  • 1Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

American Journal of Medical Genetics. Part A
|December 10, 2023
PubMed

Insights

Genetic variants in PRDM6 are linked to patent ductus arteriosus (PDA). This study identifies new PRDM6 variants in patients with PDA and coarctation of the aorta, suggesting a role in these congenital heart defects.

Area of Science:

  • Cardiovascular Genetics
  • Developmental Biology

Background:

  • Patent ductus arteriosus (PDA) and coarctation of the aorta (CoA) are common congenital heart defects.
  • PRDM6 is a gene encoding a transcription factor crucial for smooth muscle cell development.

Observation:

  • This study investigated three patients presenting with both PDA and CoA.
  • Genetic analysis revealed that these patients carried variants in the PRDM6 gene.

Findings:

  • Pathogenic variants in PRDM6 have been previously associated with non-syndromic PDA.
  • The identified PRDM6 variants in these patients, including a novel one, are likely pathogenic.
  • This suggests PRDM6 plays a role in the etiology of combined PDA and CoA.

Implications:

  • The findings expand the known spectrum of PRDM6-associated cardiovascular conditions.
  • PRDM6 variants may be a significant genetic factor in complex congenital heart defects.
  • Further research into PRDM6 function could reveal new therapeutic targets for PDA and CoA.

Keywords:
aortic coarctationcardiologycongenital heart defectpediatrics

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