Progression Towards Cracking Long QT Syndrome

As has been studied in lecture, Long QT Syndrome is when the patient has a very dangerously irregular heart rhythm due to excessively slow relaxation periods after a contraction. It has been found however, in the University of Rochester Medical Center in New York (along with the collaboration of researchers from Japan, Denmark, and Holland) that there is a genetic mutation that links to concluding how much of a risk there is for someone who has this condition. There is a gene that codes for a protein named KCNQ1, which is linked to the defect in at least 50% of the population affected. Tests have been done and observations have been made as to deducing that patients who have the specific mutation of this gene are at least twice as more likely to experience the severe effects. The studies were deduced by reviewing medical records and histories of patients affected and by engineering frog eggs to express the mutation of this gene. Therefore, this information could be coupled with age and gender to perhaps figure out when a patient would need to seek treatment. However, since this theory is still in the making (the two-fold risk calculated is still not substantial enough), there would need to be more tests conducted. This could bring many developments as to people affected with this condition, however (and less people would avoid the risk of randomly dropping dead one day.)


This article was very significant to me since it tied into the lecture that we had over Cardiovascular Physiology. It also impacted me since Long QT syndrome seemed like a mysterious one; a syndrome that someone could just mysteriously be affected by on a random day.




http://news.sciencemag.org/sciencenow/2011/03/heart-defect-medicate-or-wait.html?ref=hp