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Broken-Heart Syndrome Genes Discovered by Phoenix Researchers

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Researchers in Phoenix have found genes identified with so-called broken-heart syndrome, a severe heart condition that appears during times of intense stress.

The discovery could lead to better treatment for patients who are at risk for the problem, officially known as stress-induced cardiomyopathy (SIC) and also called Takotsubo cardiomyopathy, say scientists at Phoenix's Barrow Neurological Institute and their colleagues at Translational Genomics Research Institute, a.k.a. TGen.

One of the mysterious and hallmark traits of SIC is that its victims "generally show no symptoms until they suffer some form of intense emotional or physiological distress," states TGen today about the discovery, adding that the syndrome has "captured the attention of physicians for centuries."

"[SIC] is a weakening of the left ventricle, the heart’s main pumping chamber, usually as the result of severe emotional or physical stress, such as a sudden illness, the loss of a loved one, a serious accident, or a natural disaster such as an earthquake," according to an online article about the condition on a Harvard University Medical School site. About 90 percent of its victims are women between ages 58 and 75.

The new gene finding was published in the November 24 issue of Neurosurgery, the journal of the Congress of Neurological Surgeons.

Knowing if patients have the genes is useful, they say, because sometimes a drug used to treat a heart attack only makes people with SIC worse.

With the help of "ultra-high resolution cameras and supercomputers," the scientists analyzed the genomic makeup of seven women at Barrow who had suffered brain aneurysms that stressed their hearts.

"We have identified a series of rare genetic changes associated with this disease that may be used for early identification of patients at risk,"  states Matt Huentelman, Ph.D., an associate professor in TGen’s Neurogenomics Division. "Identification of patients at risk for SIC, based on genetic predispositions, would allow for tailored treatment upon admission of these patients to the intensive care unit, and perhaps prior to a decline of the heart and brain."

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