関連する実験動画

Updated: Jan 21, 2026

Multifocal Electroretinograms

Multifocal Electroretinograms

Published on: December 4, 2011

SCN5A R814W関連多巣性心室異型および拡張型心筋症：治療可能なチャネル病

Marta Catarina Bernardo¹, Isabel Martins Moreira¹, José Pedro Guimarães¹

¹Cardiology Department, Local Health Unit of Trás-os-Montes e Alto-Douro, Vila Real, Portugal.

Journal of cardiovascular electrophysiology

|January 20, 2026

要旨

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.

キーワード:

SCN5A MEPPC Dilated Cardiomyopathy Quinidine Channelopathy Ventricular Ectopy Heart Failure

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