Journal of cardiovascular electrophysiology · 2026
SCN5A R814W-Associated Multifocal Ventricular Ectopy and Dilated Cardiomyopathy: A Treatable Channelopathy.
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Bernardo Marta Catarina, Moreira Isabel Martins, Guimarães José Pedro, Margato Renato, Borges Sara, Carvalho Sofia Silva, Moreira José Ilídio
Аннотация
INTRODUCTION: Multifocal ectopic Purkinje-related premature contractions (MEPPC) is a syndrome caused by gain-of-function SCN5A variants, characterized by multifocal ventricular ectopy and dilated cardiomyopathy (DCM).
METHODS AND RESULTS: We report a case of a 63-year-old woman with longstanding DCM and a high burden of multifocal premature ventricular contractions arising from the His-Purkinje system, refractory to multiple antiarrhythmic drugs and associated with progressive heart failure. Genetic testing identified the pathogenic SCN5A R814W variant. Quinidine resulted in complete suppression of ventricular ectopy, marked improvement in left ventricular function, and clinical recovery.
CONCLUSION: This case supports the role of a rare SCN5A variant in MEPPC and the efficacy of quinidine.
METHODS AND RESULTS: We report a case of a 63-year-old woman with longstanding DCM and a high burden of multifocal premature ventricular contractions arising from the His-Purkinje system, refractory to multiple antiarrhythmic drugs and associated with progressive heart failure. Genetic testing identified the pathogenic SCN5A R814W variant. Quinidine resulted in complete suppression of ventricular ectopy, marked improvement in left ventricular function, and clinical recovery.
CONCLUSION: This case supports the role of a rare SCN5A variant in MEPPC and the efficacy of quinidine.