Are Mutants Lurking in Your Genes?


From your mother you got those sparkly blue eyes and your father took credit for your thick curly hair. But has anyone taken credit for your genetics that could lead to an life-threatening irregular cardiac rhythm. It only takes one mistake.

Awareness of genetics in cancer, such the BRCA1 and BRCA2 genes which predisposes women to breast cancer, are fairly well known by the public. The recent film “Decoding Annie Parker” will further increase peoples’ knowledge about genetics and cancer.

The link between heart disease and genetics is not far behind. Robert Roberts, M.D., University of Ottawa Heart Institute, notes that “It has long been recognized that 50% of the susceptibility for coronary artery disease (CAD) is due to predisposing genetic factors.” Genetic counseling is becoming part of the medical treatment plan in heart disease, too.

The Inherited Cardiovascular Disease Clinic located inside The Heart Hospital Baylor Plano’s outpatient center, is an important dot on a big Texas map.

“One of the best features of the clinic from my standpoint is that we have on site genetics counselors that have previous CV exposure,” says David Edwards, M.D., Ph.D., FACC, and physician leader who oversees the genetics clinic.

“To my knowledge, there is nothing like this clinic in the region, and I believe in the middle of the country.  The combination of good and face-to-face genetics counselors with a physician familiar with the ins and outs of treating the rare diseases results in a clinic rarely available outside of large academic centers.”

“The clinic is modeled after the focused cardiovascular genetics clinics at Johns Hopkins,” explains Dr. Edwards, where he did a fellowship.

“We have tried to put together a clinic that encompasses and tests for a wide array of rare familial diseases – the same array of diseases such as Marfan syndrome, Long QT syndrome, Brugada syndrome, hypertrophic cardiomyopathy, familial dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia and others.”

This is definitely not a routine list of cardiac disorders.

Edwards cautions that interpreting results can be challenging in this relatively new field. Some genetic tests, such as the one for long QT, an arrhythmia, can have an accuracy rate of as high as 90 percent told Dallas Morning News writer Nancy Churnin in an February 2013 article about genetics and heart disease.

In other conditions, such as hypertrophic cardiomyopathy, a thickening of the heart muscle, mutations may lurk in a larger pool of possible genes. Also, while tests may reveal common family mutations, not all mutations may be dangerous or harmful. Sometimes even an expert might have to make a diagnosis based on probabilities rather than certainties, he says.

“There’s a whole new level of information available, but it can give you a false sense of security because the results are rarely black and white,” Edwards says in the Dallas Morning News article.

To help people learn more about this new field, Dr. Edwards gave a recent talk, “Families & Heart Failure – What Role Do Genetics Play?” Click here for the full power point presentation.

About the author

Susan Hall
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Susan joined Baylor many years ago when Baylor University Medical Center at Dallas was the only Baylor facility in the area. When not at work, she’s outside – Big Bend National Park is her favorite with Glacier National Park a close second.

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Are Mutants Lurking in Your Genes?