A new study led by researchers at University College London (UCL) suggests that magnetic resonance imaging (MRI) of the heart could help detect lamin heart disease earlier and better predict which patients face the highest risk.
Lamin heart disease is a rare genetic disorder that weakens the heart’s ability to pump blood and can cause dangerous irregular heart rhythms. It is caused by mutations in the LMNA gene, which produces proteins essential for heart cell function. The condition usually affects people in their 30s and 40s.
Though rare, lamin disease is often undiagnosed. About one in 5,000 people carry a harmful LMNA mutation, and up to 10% of those with a family history of heart failure may have lamin heart disease.
The study, published in JACC: Cardiovascular Imaging, found that cardiac MRI detected inflammation, scarring, and reduced heart function in carriers of the LMNA mutation whose hearts appeared normal on standard tests.
Researchers argue that MRI, considered the gold standard for heart imaging, should be included in risk assessments. This could guide decisions on treatments such as heart transplants or implantable defibrillators—devices that monitor heart rhythms and deliver shocks if dangerous arrhythmias occur.
Currently, doctors estimate risk using electrocardiograms (ECGs), which measure electrical activity, along with patient sex, genetics, symptoms, and ultrasound-based measures of heart function.
Dr. Gaby Captur, senior author and researcher at UCL’s Institute of Cardiovascular Science and the Royal Free Hospital in London, said, “Genetics alone cannot predict how this disease will progress. Two people with the same mutation can have very different outcomes.”
She added, “The current risk prediction tool is not very effective and works particularly poorly for women. Predicting risk is critical because it decides who should receive a defibrillator. These devices are permanent, and the decision to implant one is major and life-changing. Currently, seven out of 10 people who get one do not actually benefit from it.”
Dr. Captur noted the need to repeat the study with a larger group but said the findings show that cardiac MRI could improve risk predictions and become a routine part of managing lamin heart disease.
The research was funded by the British Heart Foundation, the National Institute of Health and Care Research (NIHR), Barts Charity, the Society for Cardiovascular Magnetic Resonance, and the NIHR UCLH Biomedical Research Centre.
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