hrp0092p2-180 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Sudden Death in an Infant Attributed to Arrhythmia Associated with Beckwith-Wiedemann Syndrome due to Hypomethylation of Imprinting Control Region 2 on Chromosome 11p15.5

Petkovic Grace , Sethi Aashish , Apperley Louise , Senniappan Senthil , Blair Joanne , Kokai George , Didi Mohammed

Introduction: Hypomethylation at the imprinting control region 2 (IC2) on chromosome 11p15.5 is the commonest identifiable cause of Beckwith-Wiedemann Syndrome (BWS). IC2 is located in KCNQ1 intron 10 and is associated with Long QT syndrome (LQTS). A recent consensus statement on BWS1 recommends annual cardiac evaluation with electrocardiogram (ECG) in these patients. The natural history of LQTS secondary to hypomethylation at IC2 in BWS is...