Arrhythmias & electrophysiology
Extensive cardiac involvement in laminopathies diagnosed in pediatric-aged patients: A single-center study
Authors' conclusion
Cardiac involvement, specifically cardiomyopathy and progressive conduction system abnormalities, were common in pediatric patients with pathogenic LMNA variants.
Study context
- Population
- Patients ≤18 years with genetically confirmed pathogenic lamin A/C (LMNA) variants, single centre, 2003–2024
- Participants
- 12 patients
- Outcome
- Natural history of cardiac disease
- Follow-up
- Median 9.5 years
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Cardiac involvement · median follow-up 9.5 years (IQR, 7.0-13.3 years)
- Cardiac manifestations
- 9 (75%)
- Conduction abnormalities or arrhythmias (AV block, ventricular/atrial tachycardias)
- 9 (75%)
- Cardiovascular implantable electronic devices placed
- 4 (33%)
- Cardiomyopathy
- 2 (17%)
- Heart transplant
- 1 (8%)
- Death during study
- 2 (17%)
Observational data: associations, not effects.
Further findings
Baseline characteristics
- Median age at diagnosis (IQR, 3.7-10.7 years)
- 4.9 years
- Male
- 9 (75%)
- Skeletal muscle involvement
- 10 (83%)
Original publication
Extensive cardiac involvement in laminopathies diagnosed in pediatric-aged patients: A single-center study. Heart Rhythm. Published 31 January 2025. doi:10.
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