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Medical Edge: Genetic Testing

Posted at: 10/16/2012 5:52 PM
By: Ellery McCardle

(ABC 6 NEWS) -- In recent years, genetic discoveries have made the diagnosis and treatment of many diseases much more effective.  

For example, heart problems can go undiagnosed for years, and sometimes the first symptom is cardiac arrest. But there are preventive measures people can take starting right now. 

The heart condition hypertrophic cardiomyopathy is most commonly associated with sudden death in athletes. But genetic testing is helping patients become more heart healthy before it’s too late.

"I want them to be able to go and do the things they want to do," said Amber Kindberg. To her, nothing is more important than the safety and health of her kids.

But when she learned that a genetic condition called hypertrophic cardiomyopathy runs in her family, and was the cause of some of her relatives' deaths, Amber went to a cardiologist to find out if she has the gene.

"I think knowledge is power," said Kindberg.

"For an individual with hypertrophic cardiomyopathy, there would be a 50 percent chance that they would pass this gene along to their children and possibly the disease, and there would be a high likelihood that you would find this disease in other close family members," said Dr. Steven Lester, a Mayo Clinic cardiologist. 

Dr. Lester says the condition causes heart muscles to thicken. That can impair the ability of the heart to fill and eject or pump blood properly. It can cause shortness of breath and chest pain. Even sudden death.

"When we see individuals with hypertrophic cardiomyopathy, it's important to embark upon a family-screening program," said Dr. Lester. 

A heart ultrasound, also called an Echocardiogram is used to look for structural changes. If the disease is present, patients and their families can get proper treatment.

After genetic testing, which consists of a simple blood draw, Amber found she did not have the gene. That means her kids don't have it either. 

There is no cure for hypertrophic cardiomyopathy, but Dr. Lester says there are treatments available to help improve symptoms and survival.