Broader genetic tests identify coexisting cardiomyopathy and heart arrhythmia, study finds

Broader genetic testing identified 11 percent more patients with cardiomyopathy or heart arrhythmia who would have otherwise been missed, according to a study published Aug. 10 in JAMA Cardiology.

Currently, genetic tests are usually given for specific disease subtypes and are too narrow to catch related issues. Researchers from Evanston, Ill.-based Northwestern University found that broader genetic tests can identify coexisting diseases or can predict the development of the disease.

"Heart failure and arrhythmia conditions are often thought of as separate disorders, but these findings, along with some other recent reports, have really highlighted how intertwined arrhythmias and cardiomyopathies are, and having one increases the chances of getting the other," author Elizabeth McNally, MD, director of the Center for Genetic Medicine at Northwestern University Feinberg School of Medicine, said in a news release. 

"It turns out there is genetic crossover in which the same gene can be linked to both cardiomyopathy and arrhythmias, so ordering a larger test improves the odds of getting a result."

The study included 4,782 individuals suspected of inheriting cardiomyopathy or arrhythmia. One in five received a genetic diagnosis after using a combined cardiomyopathy and arrhythmia panel, and 10.9 percent of patients with a diagnosis would have been missed had the genetic panel looked for only one of the subtypes.

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