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Myotonic dystrophy and Brugada syndrome: A common pathophysiologic pathway?
Andrés Ricardo Pérez-Riera1, Adrian Baranchuk2, Li Zhang3
1Design of Studies and Scientific Writing Laboratory at the ABC School of Medicine, Santo André, São Paulo, Brazil.
Journal of Electrocardiology
|April 9, 2017
Summary
Type 1 myotonic dystrophy (DM1) affects multiple organs. This case study highlights a DM1 patient with Brugada ECG patterns, suggesting a shared pathway between these conditions.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Type 1 myotonic dystrophy (DM1) is a progressive, multi-systemic hereditary neuromuscular disorder.
- DM1 commonly affects adults, leading to muscle weakness and visual impairment.
Observation:
- A 42-year-old male diagnosed with DM1 presented with progressive muscle weakness and vision loss.
- Cardiac evaluation was initiated due to ophthalmologist referral for cataract surgery risk assessment.
Findings:
- Electrophysiology study revealed a type 1 Brugada ECG pattern, positive late potentials, and inducible ventricular fibrillation.
- Literature review indicated that these ECG abnormalities are documented in DM1 patients.
Implications:
- The findings suggest a potential shared pathophysiologic mechanism between DM1 and Brugada syndrome.
- This highlights the importance of cardiac screening in DM1 patients.
- Further research into the common pathways may lead to novel therapeutic strategies.
Keywords:
Brugada phenocopyBrugada syndromeIntraventricular conduction systemSteinert's diseaseType 1 Brugada ECG patternMore Related Videos
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