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A rare genetic variant in PRDM16 is associated with Wolff–Parkinson–White syndrome with complex accessory pathway characteristics and left ventricular non-compaction cardiomyopathy

Published online by Cambridge University Press:  03 February 2025

Krishna Kishore Umapathi ,
Stanley B. Schmidt  and
Utkarsh Kohli Open the ORCID record for Utkarsh Kohli [Opens in a new window]
Krishna Kishore Umapathi
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Charleston Area Medical Center, Charleston, WV, USA
Stanley B. Schmidt
Affiliation:
Department of Cardiology, Division of Electrophysiology, West Virginia University School of Medicine and Heart and Vascular Institute, Morgantown, WV, USA
Utkarsh Kohli*
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, West Virginia University School of Medicine and West Virginia University Children’s Heart Center, Morgantown, WV, USA
*
Corresponding author: Utkarsh Kohli; Email: [email protected]
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Abstract

Not only has Wolff–Parkinson–White syndrome been associated with congenital cardiac abnormalities and cardiomyopathies, but familial clustering of Wolff–Parkinson–White syndrome has also been reported. Despite these well-known associations, direct genetic aetiology is rarely implicated in patients with Wolff–Parkinson–White syndrome. We report a 17-year-old girl with Wolff–Parkinson–White syndrome and left ventricular non-compaction cardiomyopathy due to a rare genetic variant in PR-domain containing protein 16. The report is supplemented by a comprehensive review of literature on association between PRDM16, left ventricular non-compaction and Wolff–Parkinson–White syndrome.

Keywords

PRDM16Wolff–Parkinson–Whiteleft ventricular non-compaction
Type
Brief Report
Information
Cardiology in the Young , First View , pp. 1 - 8
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Copyright
© The Author(s), 2025. Published by Cambridge University Press

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