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Left sided arrhythmogenic ventricular dysplasia in siblings
1Cardiac Services, Flinders Medical Centre, Flinders Drive, Bedford Park, 5042, South Australia, Australia. carmine.depasquale@fmc.sa.gov.au
Heart (British Cardiac Society)
|July 17, 2001
Summary
Sudden cardiac death in a young man was linked to a rare left-sided form of arrhythmogenic ventricular dysplasia. Family screening revealed similar abnormalities, highlighting the importance of genetic testing for sudden cardiac death survivors.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic heart muscle disease.
- Typically, ARVD affects the right ventricle, causing arrhythmias and sudden cardiac death.
- Left ventricular involvement is rare but can occur.
Observation:
- A 32-year-old man with no prior medical history experienced sudden cardiac death.
- Post-mortem examination revealed extensive fibro-fatty infiltration of the left ventricle, characteristic of ARVD but unusually localized.
- Screening of his family identified a brother with a functionally and electrically abnormal left ventricle, suggesting a familial left-sided ARVD.
Findings:
- The index case presented with a unique left ventricular manifestation of arrhythmogenic ventricular dysplasia.
- The affected brother exhibited left ventricular dysfunction and electrical abnormalities, with relative sparing of the right ventricle.
- These cases suggest a potential left-sided variant of arrhythmogenic ventricular dysplasia.
Implications:
- This case highlights the importance of considering left ventricular involvement in arrhythmogenic ventricular dysplasia.
- Family screening is crucial for identifying at-risk relatives of individuals who experience sudden cardiac death.
- Early diagnosis and intervention can potentially prevent further cardiac events in affected families.