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Brugada Syndrome: Warning of a Systemic Condition?
Sara D'Imperio1, Michelle M Monasky1, Emanuele Micaglio1
1Arrhythmology Department, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Donato, Milan, Italy.
Frontiers in Cardiovascular Medicine
|November 1, 2021
Summary
Brugada syndrome (BrS) is a systemic disorder, not just cardiac. Research suggests it affects multiple organs, and a blood test may diagnose it, avoiding risky ajmaline drug use.
Area of Science:
- Cardiology
- Genetics
- Systems Biology
Background:
- Brugada syndrome (BrS) is a hereditary cardiac disorder linked to sudden cardiac death.
- The SCN5A gene mutation, common in BrS, is expressed widely, suggesting systemic involvement.
- Triggers like large meals and alcohol, plus ajmaline drug side effects, indicate roles for digestive and metabolic pathways.
Purpose of the Study:
- To review associations between Brugada syndrome and various organ systems.
- To support the hypothesis that BrS is a systemic disorder affecting the whole body.
- To explore multi-omics approaches for diagnosing BrS via blood tests.
Main Methods:
- Review of existing literature on Brugada syndrome associations.
- Analysis of SCN5A gene expression and its systemic implications.
- Discussion of multi-omics strategies (genomics, proteomics, metabolomics, etc.) for biomarker discovery.
Main Results:
- Brugada syndrome is linked to neural, digestive, and metabolic pathways.
- Potential biomarkers for BrS have been identified in serum and plasma.
- The BrS ECG pattern may represent a final common pathway for life-threatening events.
Conclusions:
- Brugada syndrome is a systemic condition impacting multiple organs, not solely the heart.
- A multi-omics approach is proposed for comprehensive BrS study and biomarker identification.
- A minimally invasive blood test could potentially diagnose BrS, replacing risky ajmaline testing.
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