Combination of multimodal imaging and computer simulations for the investigation of the arrhythmic substrate of NPPA gene mutations.
Masé M., Cristoforetti A., Disertori M., Ravelli F.
Mounting evidence supports the role of heritability in the pathogenesis of cardiac arrhythmias. Nevertheless the mechanisms by which specific gene mutations provide a proarrhythmic substrate are not fully understood. By combining signal and image processing with biophysically detailed computer simulations, this study aimed to characterize the substrates of two recently discovered mutations in atrial natriuretic peptide precursor A gene, and to investigate their relationship with the emergent arrhythmic phenotype. The analysis of multimodal imaging data revealed specific mutation-induced, electro-structural alterations in patients atrial tissue. The realization of patient-specific, mutation-tailored simulations suggested the role of these alterations in dictating arrhythmia properties.