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Clinical Sequencing for Long QT Syndrome

A baby born at Lucile Packard Children's Hospital Stanford had her heart stop multiple times in the hours after she was born and quickly had a defibrillator implanted, Stanford Medicine's Scope blog says.

As cardiologist Euan Ashley and his colleagues report in an article in press at Heart Rhythm, they performed rapid whole-genome sequencing on this baby girl to inform their treatment strategy for her severe Long QT Syndrome.

Within 10 days — sooner, they note, than standard gene-panel testing would have provided data — they had an answer. The team found a paternally inherited known pathogenic variant in KCNH2 as well as a maternally inherited variant of unknown significance in RNF207, which is involved in the ubiquitin pathway

Based on that KCNH2 variant, the clinicians could treat the newborn with a gene-specific drug.

Ashley and his colleagues note that there typically is clinical heterogeneity in how people with long QT syndrome present, such as variations in that QT interval. Researchers suspect that other loci or environmental factors may influence how the disease presents itself. Here, the researchers say the maternally inherited VUS may contribute in this case to the disease severity.

"In the case of an infant like this, the difference in turnaround between two months and two days could be the difference between life and death," Ashley tells the Scope blog.