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

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 <i>PRDM16</i>, left ventricular non-compaction and Wolff-Parkinson-White syndrome.

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Publication Details

Journal
Cardiology in the Young
Published
2025-02-03
DOI
https://doi.org/10.1017/s1047951124036631
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Utkarsh Kohli, Krishna Kishore Umapathi, Stanley Schmidt
Cardiology in the Young
Cardiomyopathy and Myosin Studies
article

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

Utkarsh Kohli, Krishna Kishore Umapathi, Stanley Schmidt
article en

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 <i>PRDM16</i>, left ventricular non-compaction and Wolff-Parkinson-White syndrome.

Cardiology in the YoungVol. 35(3)
West Virginia University (US), Charleston Area Medical Center (US), West Virginia University Hospitals (US)
Openalex Percentile: Top 96%
Cardiomyopathy and Myosin Studies
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