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Updated: Aug 9, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Brugada-Brugada syndrome. An atypical case]
H W Breuer1, G Breithardt, M Borggrefe
1Abteilung für Innere Medizin, St.-Carolus-Krankenhaus Görlitz Chefarzt. Breuer.SCKHG@t-online.de
Brugada syndrome, a heart rhythm disorder, is diagnosed using specific ECG criteria. Early recognition of these ECG changes is crucial for timely treatment with an implantable cardioverter-defibrillator (ICD).
Area of Science:
- Cardiology
- Electrophysiology
- Medical Diagnostics
Background:
- Brugada syndrome is a genetic heart rhythm disorder characterized by specific electrocardiogram (ECG) abnormalities.
- These ECG findings include a high-take off descending ST segment in right precordial leads, often accompanied by right bundle branch block.
Observation:
- A 47-year-old female presented with enteritis and syncope.
- Electrocardiogram (ECG) alterations in the right precordial leads were noted but initially not recognized as Brugada syndrome.
Findings:
- The patient's ECG findings were eventually identified as characteristic of Brugada syndrome.
- Diagnosis was confirmed after recognizing similar ECG patterns presented at a congress lecture.
Implications:
- Prompt diagnosis of Brugada syndrome is essential for preventing potentially life-threatening events like syncope and ventricular fibrillation.
- Treatment with an implantable cardioverter-defibrillator (ICD) can mitigate risks associated with Brugada syndrome.
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