A Fatal Congenital Heart Defect Is Identified
October 22, 2007 by Kendra James, RN
Filed under Diseases & Conditions
Researchers at the Sahlgrenska Academy have discovered a previously unknown congenital disease that is caused by a genetic defect resulting in muscle cells not being able to store energy from sugar. In the worst case, the disease can lead to the heart stopping.
The researchers identified three sisters who had previously had an undetermined disease. Their parents must have both been carriers as that is what is needed for this congenital heart defect to transpire. The eldest of the siblings collapsed suddenly while on a playground and died. She had previously been treated for epilepsy with diminished energy and strength.
It wasn’t till after her death and a post mortem exam that they discovered that her heart was not “normal”. When the next sibling started with similar symptoms, they biopsied her heart and found the same… the heart muscle lacked glycogen, one of the major sources of fast energy for muscles.
How is that imperative? When the heart muscle, which is constantly at work, is strained it must derive energy from glycogen. This research could also prove to be a stepping stone for type 2 diabetes as well as saving many of children’s lives.
