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Laminopathies: should Wenckebach be a cause for concern? A case report
1Cardiology Department, Salisbury Hospital, Odstock Rd, Salisbury SP2 8BJ, UK.
European Heart Journal. Case Reports
|November 24, 2021
Summary
LMNA cardiomyopathy, a genetic condition, can cause aggressive dilated cardiomyopathy (DCM) and sudden cardiac death (SCD). This case highlights the critical need for specialized care in managing these complex inherited cardiomyopathies.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetic Basis of Cardiomyopathy
Background:
- LMNA cardiomyopathy is a severe form of dilated cardiomyopathy (DCM) associated with high risks of heart failure, arrhythmias, and sudden cardiac death (SCD).
- This case report details a male patient with a confirmed LMNA mutation presenting with aggressive DCM.
Observation:
- A 42-year-old male experienced lethargy and dizziness, with ECG showing Mobitz type 1 atrioventricular block and non-sustained ventricular tachycardia.
- Cardiac MRI revealed mild LV dilatation and specific enhancement patterns suggestive of DCM, despite preserved ejection fraction.
- Initial management included pacemaker implantation for arrhythmia suppression, with plans for an implantable defibrillator pending genetic confirmation of laminopathy.
Findings:
- The patient unfortunately experienced an out-of-hospital ventricular fibrillation (VF) arrest and died.
- Post-mortem examination confirmed subtle cardiomyopathy consistent with DCM.
- Genetic testing results revealed a pathogenic variant in the LMNA gene, confirming the diagnosis of LMNA-related cardiomyopathy.
Implications:
- LMNA-related cardiac disease is complex and requires management by centers specializing in inherited cardiomyopathies.
- Early identification and specialized follow-up are crucial for patients with LMNA mutations to mitigate risks of aggressive cardiac events.
- This case underscores the importance of genetic testing in diagnosing and managing cardiomyopathies with a high risk of sudden cardiac death.
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