pone.0287206.g001.tif (1.85 MB)
First index patient ECG, positions of KCNH2 mutations and second index patient ECG.
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posted on 2024-01-05, 18:32 authored by Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M. Cordeiro, Makarand DeoA. ECG of first index patient. ECG revealed prolonged QT and visible T-wave alternans. B. Cartoon of the KCNH2 gene showing the location of P632L and S432P. C. Representative ECG of the second index patient. The R-R intervals is shown in milliseconds. Patient exhibited pause dependent torsade de pointes. Figure was taken from Viskin et al. [4].
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long qt syndromeexperimental findings suggestcell derived cardiomyocytesamino acid changeheterozygous missense mutationherg current compareddiv >< pherg current blockades428p ), respectivelypurkinje cells exhibithek cells producedgo related geneherg currentherg ),partial blockadewild typeventricular myocytestransiently transfectedposition 428outer loopold infantold girlkcnh2 human etherhigher susceptibilityheterologous expressiongenetic screeningfirst mutationcomputer simulationsarrhythmogenic substratearrhythmogenic potentialsaction potentials>, resulting
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