Takotsubo cardiomyopathy and Brugada syndrome in a patient with a novel loss-of-function variant in the cardiac sodium channel Nav1.5

Key Teaching Points•We found a novel variant in the SCN5A gene (p. Arg376Leu (R376L)) in a patient with a coexistence of Brugada syndrome and takotsubo cardiomyopathy.•Electrophysiological investigations are consistent with a loss of function in the cardiac sodium channel Nav1.5.•This case report highlights the uncertainty that follows the finding of rare genetic variants and coexisting phenotypes. •We found a novel variant in the SCN5A gene (p. Arg376Leu (R376L)) in a patient with a coexistence of Brugada syndrome and takotsubo cardiomyopathy.•Electrophysiological investigations are consistent with a loss of function in the cardiac sodium channel Nav1.5.•This case report highlights the uncertainty that follows the finding of rare genetic variants and coexisting phenotypes.