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

Helen M Stanley; Brian R White; Christopher J LaRosa; Mark W Cocalis; J William Gaynor; Alanna Strong; Balram Gangaram

doi:10.1002/ajmg.a.63500

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

Am J Med Genet A. 2024 Apr;194(4):e63500. doi: 10.1002/ajmg.a.63500. Epub 2023 Dec 9.

Authors

Helen M Stanley¹, Brian R White¹, Christopher J LaRosa², Mark W Cocalis³, J William Gaynor⁴, Alanna Strong⁵, Balram Gangaram^{6

7}

Affiliations

¹ Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
² Division of Nephrology, Department of Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
³ Division of Pediatric Cardiology, University of California San Francisco, San Francisco, California, USA.
⁴ Division of Cardiothoracic Surgery, Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
⁵ Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
⁶ Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California, USA.
⁷ Division of Genetics and Metabolism, Valley Children's Healthcare, Madera, California, USA.

PMID: 38071433
DOI: 10.1002/ajmg.a.63500

Abstract

Patent ductus arteriosus (PDA) and coarctation of the aorta (CoA) are relatively common congenital heart defects. Pathogenic variants in PRDM6, which encodes a smooth-muscle-cell-specific transcription factor, have now been etiologically associated with non-syndromic PDA. We present three patients with PDA and CoA found to harbor PRDM6 variants, including a novel, likely-pathogenic variant.

Keywords: aortic coarctation; cardiology; congenital heart defect; pediatrics.

Publication types

Case Reports

MeSH terms

Aortic Coarctation* / genetics
Ductus Arteriosus, Patent* / diagnosis
Ductus Arteriosus, Patent* / genetics
Heart Defects, Congenital* / diagnosis
Heart Defects, Congenital* / genetics
Humans
Transcription Factors / genetics

Substances

Transcription Factors