A Californian family had a precious newborn baby who appeared to be healthy, until a doctor listened to her heart. The doctor knew the baby’s heart was failing, so she was treated with medication to help her heart keep pumping. In the years following, as this little girl grew up, doctors discovered her older sister also had a heart condition, as did a previous unsuccessful pregnancy.
The little girl was diagnosed with left ventricular noncompaction (LVNC), and if it has just been her with the condition doctors may have assumed it was just a by chance, without an inherited component. However, because there was evidence of heart troubles in both of the little girls, and their sibling that did not make it to term, it was clear there was some genetic cause to be discovered.
Researchers from the Gladstone Institutes and the University of California, San Francisco, were able to get to the root of the issue. By looking at the genome of the two parents they were able to discover three rare genetic mutations, that when combined created the problem. Having one of the gene mutations, or perhaps even two would not create any problem in their children, but the mixture of all three was a tipping point that resulted in the heart condition. To confirm their results the researchers bred mice that had the same combination of gene mutations and saw that the mice also had hearts that were not fully matured.
Both girls are now regularly monitored by a cardiologist to ensure they are healthy. It seems that their hearts have now matured to a point where the genetic mutations that cause the defect in their hearts when they were young are no longer a problem.
Source: STAT news
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