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Updated: Jan 21, 2026

Multifocal Electroretinograms
Published on: December 4, 2011
SCN5A R814W-Associated Multifocal Ventricular Ectopy and Dilated Cardiomyopathy: A Treatable Channelopathy
Marta Catarina Bernardo1, Isabel Martins Moreira1, José Pedro Guimarães1
1Cardiology Department, Local Health Unit of Trás-os-Montes e Alto-Douro, Vila Real, Portugal.
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.
Insights
Multifocal ectopic Purkinje-related premature contractions (MEPPC), a syndrome linked to SCN5A variants, can cause heart failure. This case highlights quinidine
Area of Science:
- Cardiology
- Genetics
- Electrophysiology
Background:
- Multifocal ectopic Purkinje-related premature contractions (MEPPC) is a genetic syndrome.
- It is characterized by SCN5A gain-of-function variants, multifocal ventricular ectopy, and dilated cardiomyopathy (DCM).
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