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.
Authors
- Utkarsh Kohli (ORCID: https://orcid.org/0000-0003-3410-840X)
- Krishna Kishore Umapathi (ORCID: https://orcid.org/0000-0003-1644-7395)
- Stanley Schmidt
Institutions
- West Virginia University (US)
- Charleston Area Medical Center (US)
- West Virginia University Hospitals (US)
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