Inherited arrhythmia syndromes From genotype to phenotype in hiPSC-derived cardiomyocytes

Inherited arrhythmia syndromes account for a large subset of sudden cardiac death in the young. Despite a substantial increase in knowledge obtained in the last two decades, many issues regarding the genotype to phenotype relationship within these syndromes remain elusive. Recently, a technique has been developed in which human unipotent cells are reprogrammed into a pluripotent state (human induced pluripotent stem cells; hiPSC), which can be cultured and differentiated into a limitless number of cardiomyocytes, allowing the study of inherited arrhythmia syndromes in patient-specific, human cardiomyocytes. This thesis has focused on the application of hiPSC-derived cardiomyocytes to study the genotype to phenotype relationships of inherited arrhythmia syndromes.