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MEPPC Syndrome: A Systematic Review and State-of-the-Art Paper
Paolo Basile1, Maria Cristina Carella1, Stefania Zaccaro1
1University Cardiology Unit, Interdisciplinary Department of Medicine, "Aldo Moro" University School of Medicine, Polyclinic University Hospital, Bari, Italy (P.B., M.C.C., S.Z., M.M.D., Y.K., V.E.S., C.F., M.M.C., A.I.G.).
Abstract:
Multifocal ectopic Purkinje-related premature contractions syndrome presents as a rare cardiac disorder characterized by frequent multifocal ectopic ventricular beats with narrow QRS complexes, originating from various ectopic foci along the fascicular-Purkinje system. It is characterized by mutations in the SCN5A gene, inducing a gain-of-function in the human cardiac voltage-gated Na+ channel (Nav1.5), which causes an alteration in the action potentials of the cardiomyocytes. The syndrome was initially delineated in 2012 by Laurent et al in 3 Dutch families, subsequently garnering recognition through several reported cases worldwide. Clinically, it often manifests with a familial predisposition to other arrhythmogenic cardiac diseases, alongside symptoms such as palpitations and syncope. A key diagnostic hallmark is the high daily burden of multifocal premature ventricular contractions observed on 24-hour dynamic ECG, with evidence of repetitive ventricular arrhythmias. This can potentially induce a reversible form of left ventricular dilation with systolic dysfunction, known as premature ventricular contraction-induced cardiomyopathy. Diagnosis may be challenging, requiring exclusion of the most frequent causes of ventricular arrhythmias first. The disappearance of arrhythmias during a stress test and the inefficacy of catheter ablation procedures may serve as additional elements to bolster the suspicion of multifocal ectopic Purkinje-related premature contractions syndrome. Genetic testing and electrophysiological studies are pivotal in confirming the diagnosis. Therapeutic management of this syndrome primarily involves medical therapy with class I antiarrhythmic drugs, such as flecainide and quinidine, which may reduce ventricular arrhythmias and associated symptoms. In this systematic review, our aim was to provide an exhaustive insight into the genetic basis, diagnosis, and treatment strategies for this intriguing yet relatively underexplored syndrome.
Insights
Multifocal ectopic Purkinje-related premature contractions syndrome, caused by SCN5A gene mutations, leads to frequent ventricular arrhythmias. Treatment focuses on antiarrhythmic drugs to manage symptoms and prevent cardiomyopathy.
Area of Science:
- Cardiology
- Genetics
- Electrophysiology
Background:
- Multifocal ectopic Purkinje-related premature contractions syndrome is a rare cardiac disorder.
- Characterized by frequent, narrow QRS ventricular beats from the Purkinje system.
- Linked to SCN5A gene mutations affecting the Nav1.5 sodium channel.
Purpose of the Study:
- To provide an exhaustive insight into the genetic basis, diagnosis, and treatment of this syndrome.
- To review current understanding of this rare cardiac arrhythmia.
- To highlight diagnostic challenges and therapeutic strategies.
Main Methods:
- Systematic review of existing literature.
- Analysis of genetic testing and electrophysiological study findings.
- Review of clinical manifestations and diagnostic hallmarks.
Main Results:
- Mutations in SCN5A cause gain-of-function in Nav1.5, altering cardiomyocyte action potentials.
- High burden of multifocal premature ventricular contractions on ECG is a key diagnostic feature.
- Can lead to reversible premature ventricular contraction-induced cardiomyopathy.
Conclusions:
- Diagnosis requires excluding other causes and may be supported by stress test results and failed ablation.
- Genetic testing and electrophysiology are crucial for confirmation.
- Class I antiarrhythmic drugs like flecainide and quinidine are primary treatments.
