TECRL , a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

What is it about?

In this study we describe the discovery of a new gene (TECRL) that is involved in inherited cardiac arrhythmias. Mutations in this gene can cause lethal cardiac arrhythmias at a very young age. We generated patient-derived stem cells that we used to make heart cells and study the disease at a cellular and molecular level. Importantly, were able to show a beneficial effect of the drug Flecainide on these patient-derived heart cells. Further studies are needed to test its effectiveness on the patients themselves.

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Why is it important?

With our current knowledge we can screen for mutations in this gene in families that suffer from this disease and prevent unnecessary deaths by giving appropriate medication and/or surgical intervention.