A STORY OF INHERITED HEART DISEASE CARDIAC RISK SHOWS BENEFIT OF CARDIAC TESTING EARLY DETECTION AND SCREENING

Why His Son Collapsed A Father's Determination to Find the Answer

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People at risk for heart problems and heart disease are mostly adults. But kids can have inherited heart disease or inherited heart disease risk. Inherited cardiac heart disease is discovered late because people don't associate heart problems with kids. But inherited heart disease can be in the genes of a family and learning about cardiac disease in kids is a wise decision.




















In the Unites States places like the Mayo Clinic can detect heart disease and inherited cardiac risk using tests of the heart as well as genetic tests for inherited heart problems. For example, the Mayo Clinic web site talks about Long QT syndrome. This is a "heart rhythm disorder that is often present from birth. It gets its name from the peculiar pattern of the electrocardiogram (EKG) seen in people with the disease. It affects one person in every 5,000 to 7,000 people in the United States. Tests needed to diagnose it vary with each individual. The diagnosis can sometimes be made from an electrocardiogram (EKG)". Genetic testing blood tests can check for mutations in the genes currently known to cause it.



A young British lad, "Adam Payne was just eight years old when he collapsed during a football match and died. For months nobody was able to tell his family why it had happened, but doctors said they suspected epilepsy to be the cause. Unhappy with this, Adam's father, Nick, searched the internet. "He soon found the (British) Cardiac Risk in the Young website and case studies on it that mirrored Adam's". His father suspected that his son had suffered from an inherited heart condition called Long QT Syndrome but it was too late to test the boy. At the Mayo Clinic doctors diagnose and evaluate it with an EKG (electrocardiogram) as well as a variety of other tests.



Later Adam's brother "Liam was due to go into hospital for a hernia operation and so his father demanded screening(which would be an electrocardiogram) worried that the strain of an anesthetic might prove too much for his heart."But his GP said there was a three-month wait for an EKG. "I was alarmed. I said Liam could not have an anesthetic without an EKG," said Nick. "I phoned the surgeon who was due to carry out Liam's hernia operation and told him our fears. He said 'come to the hospital and I will give him an EKG'." This confirmed Long QT Syndrome and because it was now known to be genetic, Nick and his wife were also screened and she tested positive. Both now receive treatment for the condition and are doing well".




Tests for Cardiac Problems include:

"Electrocardiograms. This test studies the heart's rhythm and gauges the severity of the problem. Some people with suspected long QT syndrome have a clearly prolonged QT interval on an ECG. However others do not, making the condition more difficult to diagnose. Other testing may then be necessary".

"Ambulatory EKG monitoring (Holter monitoring). This test is used to monitor the heart for rhythm irregularities during normal activity for an uninterrupted 24-hour period. During the test, electrodes attached to the chest are connected to a portable recorder that attaches to a person's belt or is carried by a shoulder strap. The recorded information can then be analyzed by computer to check for heart rhythm irregularities, such as prolonged QT intervals".

"Exercise stress test. This ECG test is performed while the patient is walking on a treadmill or pedaling a stationary bike".

"Epinephrine QT stress test. This QT stress test is performed while the patient is given a medication that stimulates the heart in a way similar to exercise. The medication is given through a vein in the arm and may include epinephrine (adrenaline). In some people with long QT syndrome, fainting spells are triggered by sudden bursts of adrenaline in the body, such as are experienced during intense exercise or emotional upset".

Echocardiograms. They visualize the heart and heart wall motion.

Genetic testing. Blood tests can check for mutations in the genes currently known to cause inherited long QT syndrome. The first genetic mutations responsible for long QT were initially discovered in 1995. Over the past decade, genetic testing has been available at only a few research laboratories throughout the world, including Mayo Clinic's Sudden Death Genomics Laboratory. There are now a variety of genetic tests for various inherited diseases and disease susceptibility. Genetic testing tests include tests like: genetic risk for some blood clots, genetic susceptibility to some kinds of cancer, blood problems, paternity testing and ancestry. Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to investigate a person's ancestry and for paternity testing.

Heart Tests at Mayo Clinic for Long QT

My fight to find out why Adam died