Linking Heart and Brain: The Relationship Between Long QT Syndrome and Seizures
In a significant development, researchers at the University of Rochester Medical Center have uncovered a genetic link between Long QT Syndrome (LQTS) and an increased risk of seizures. Funded by the University of Rochester Clinical and Translational Science Institute, this study provides a compelling case for doctors to pay more attention to what is happening in LQTS patients' brains.
The study, led by researcher Christine Beuckelmann, delved into the genetic links between LQTS type 2 (LQTS2) and an increased risk of seizures. The investigation utilised the Rochester-based LQTS Patient Registry, which houses information about more than 18,000 people, including LQTS patients and their affected and unaffected family members.
The research revealed that the specific location of the LQTS-causing mutation greatly affects the risk of cardiac arrhythmias and seizures. Intriguingly, in one location on the gene, the mutation protects against cardiac arrhythmias and seizures, but in another location, it increases the risk.
The findings suggest that LQTS1 and LQTS2 patients showed a much higher prevalence of seizures compared to LQTS3 or no mutation, with LQTS2 at the greatest risk. Shockingly, about 20% of the LQTS patients in the study who had a history of seizures had survived at least one lethal cardiac arrhythmia.
These findings underscore the importance of physicians treating LQTS patients to look outside the heart for potential symptoms. As Dr. Arthur Moss, M.D., the developer of the registry 40 years ago, suggests, this discovery may shed new light on a basic mechanism of seizures and provide viable therapeutic targets to treat LQTS.
The University of Rochester Medical Center, home to approximately 3,000 researchers, conducts research on various diseases, including cancer, heart disease, Parkinson's, pandemic influenza, and autism. The study was partially supported by a KL2 Mentored Career Development Award (NIH-NCATS KL2TR000095, DSA).
The study set a new clinical precedence for the link between seizures and LQTS, and it has improved human health locally, regionally, and globally. To learn more about the research conducted at the University of Rochester Medical Center, visit their website.
It is crucial to note that the study minimised the chance that the seizures were simply misdiagnosed cardiac side effects by investigating the effect of beta blockers, drugs often prescribed to LQTS patients to prevent cardiac arrhythmias.
In conclusion, the discovery of this genetic link between LQTS and an increased risk for seizures is a significant step forward in understanding the complexities of LQTS. People with LQTS who experience seizures are at greater risk of sudden cardiac death, and further research in this area could pave the way for improved treatments and outcomes for these patients.
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