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Scientists have identified genetic risk factors that are linked to stress-induced cardiomyopathy (SIC), a rare type of heart disease.

Patients with SIC generally show no symptoms until they suffer some form of intense emotional or physiological distress. For this reason the disorder is sometimes referred to as “broken heart syndrome,” and because of its unusual presentation has captured the attention of physicians for centuries.

In a study published Nov. 24 in the journal Neurosurgery, researchers report on the identification of new genetic risk factors through the use of the powerful approach of genomic sequencing. Knowing which patients harbor the genes associated with SIC could help guide their care and treatment before, and after, they suffer a life-threatening stressor that induces SIC.

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Using ultra-high resolution cameras and supercomputers, researchers identified the suspect genes by next generation DNA sequencing, essentially by spelling out the billions of bits of information in the genomes of seven women who exhibited SIC following a brain aneurysm.

“We hypothesize that patients at highest risk for SIC likely live in a compensated state of cardiac dysfunction that manifests clinically only after the heart muscle is stressed,” said Matt Huentelman, Ph.D., Associate Professor of TGen’s Neurogenomics Division, and the senior author of the study. “We have identified a series of rare genetic changes associated with this disease that may be used for early identification of patients at risk.”

Patients who volunteered for the study were among the 21 victims of hemorrhagic stroke treated at Barrow between 2005-13, and who were diagnosed with SIC. None of the patients had significant prior cardiac history. Barrow is a leading neurotrama center with more than 300 hemorrhagic stroke patients each year.

“We propose that SIC is an example of a hidden heart disease with a distinct physiological trigger, and suggest that alternative clinical approaches to these patients may be warranted,” said Yashar Kalani, M.D. and Ph.D., a chief resident in Neurological Surgery.

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