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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.
Insights
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.
Background:
LMNA cardiomyopathy is a cause of dilated cardiomyopathy (DCM) characterized by aggressive heart failure, high risk of arrhythmias, and sudden cardiac death. We present a case of a male presenting with an LMNA mutation with an aggressive DCM leading to sudden cardiac death (SCD).
Case Summary:
A 42-year-old male presented with the feeling of lethargy and intermittent dizziness. Electrocardiogram demonstrated atrioventricular block in keeping with Mobitz type 1, at a rate of 40 b.p.m. and cardiac monitoring showed non-sustained ventricular tachycardia. Cardiac magnetic resonance imaging showed preserved left ventricular (LV) ejection function (59%) but features suggesting DCM. These included mild LV dilatation with an end diastolic volume (EDV) of 213 mL and late enhancement showing a single mid myocardial focus of high signal over the distal right ventricular insertion point inferiorly and a linear area of high signal over the basal septum. After discussion at the cardiology multi-disciplinary meeting, a pacemaker was implanted so that beta-blockers could be initiated to suppress the ventricular arrhythmias. A laminopathy was suspected and if this was confirmed from genetic testing the plan was to upgrade to an implantable defibrillator. Due to stability, this was decided to be done in an outpatient setting. He unfortunately had an out-of-hospital VF arrest and died. Post-mortem showed subtle cardiomyopathy in keeping with a DCM. Genetic tests results were returned a few months later which confirmed a pathogenic variant in LMNA.
Discussion:
Because of the complexity of LMNA-related cardiac disease, they should be managed and followed up in centres with special expertise in inherited cardiomyopathy.
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