Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1 -F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes

Conclusion</div>The main functional derangement in <span style="font-style:italic;">CALM1</span>-F142L was prolonged repolarization with altered rate-dependency and sensitivity to β-adrenergic stimulation. Impaired CDI of I<sub>CaL</sub> underlined the electrical abnormality, which was sensitive to I<sub>CaL</sub> blockade. High mutation penetrance was confirmed in the presence of the native genotype, implying strong dominance of effects.</span>
Source: Cardiovascular Research - Category: Cardiology Source Type: research