People suffering from inherited heart conditions may now be diagnosed early, allowing for immediate treatment to be initiated. Researchers have developed a groundbreaking test called the TruSight Cardio Sequencing Kit that can quickly detect all known genes associated with such diseases.
What Are Inherited Heart Conditions?
Inherited heart conditions can affect people of all ages and can be life threatening. Sometimes, people with these conditions die suddenly with no obvious cause. Many people would not even suspect that they have the disease until a family member dies unexpectedly and doctors point to a genetic cardiac disorder as the cause.
These conditions are most commonly caused by the abnormal genes inherited from parents. If one of the parents has a faulty gene that can lead to the development of a heart condition, there's a 50-50 chance that the child could inherit it. Some carriers may not manifest signs of having a heart condition, and often they are unaware that they may be passing the faulty gene on to their children, who may be the ones to develop symptoms.
There are 17 inherited heart conditions that include structural heart disease, long and short QT syndrome, aortic valve disease, familial atrial fibrillation, cardiomyopathies and Noonan syndrome.
The Blood Test
The genetic tests currently available can identify genes linked to inherited heart conditions, but only in small numbers. This limitation means the tests may fail at detecting gene mutations important in diagnosing inherited heart conditions.
The new blood test's gene sequencing technology allows it to simultaneously identify the 174 genes that lead to an increased risk of inherited heart conditions. With this test, doctors are able to identify abnormalities right away and begin treatment immediately to reduce the risk of death.
"As research advances and technology develops, we are identifying more and more genetic mutations that cause these conditions," Dr. Peter Weissberg, medical director of the British Heart Foundation, says in his comments on the study findings.
"In this rapidly evolving field of research the aim is to achieve ever greater diagnostic accuracy at ever-reducing cost," he adds.
100 Percent Accuracy
The researchers, led by Dr. James Ware of Imperial College London, assessed the accuracy of the test by using it on 348 participants at the National Heart Center in Singapore. Based on the assessment of the results, the researchers conclude that the test was able to identify all genetic mutations in the blood samples with 100 percent accuracy.
The doctors who analyzed the blood samples said that the new test is faster and more reliable than other tests used today. This will allow for immediate and cost-effective treatment of these conditions.
The study was published in the Journal of Cardiovascular Translational Research.