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

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.