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Significance A major aim of this study was to develop an experimental pipeline for the analysis and assessment of variants potentially causal in sudden cardiac death of infants (SCDI). TheTNNI R37C+/− variant in this study was reliably and reproducibly disruptive to the normal physiology, in contrast to that in isogenic controls, across a battery of in silico and in vitro assays. This strengthens the evidence of pathogenicity and implicates a neonatal gene paralog encoding a sarcomeric contractile protein as having likely contributed to SCDI through a proarrhythmic pathway. This platform has the potential to be applied broadly as part of a standardized and clinically relevant death investigation in cases of SCDI where novel variants are identified.

In vitro analyses of suspected arrhythmogenic thin filament variants as a cause of sudden cardiac death in infants