In a breakthrough discovery, researchers have identified genetic risk factors that are linked to a rare type of heart disease.
Stress-induced cardiomyopathy (SIC), is the rare form of heart disease, in which patients show no symptoms until they suffer some form of intense emotional or physiological distress. It is sometimes referred to as ‘broken heart syndrome.’
Researchers at The Translational Genomics Research Institute used ultra-high resolution cameras and supercomputers and 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.
In the study, 21 patients who were diagnosed with SIC volunteered for the study.
Lead author Yashar Kalani said that they propose that SIC was an example of a hidden heart disease with a distinct physiological trigger, and suggested that alternative clinical approaches to these patients might be warranted.
Among the gene variants identified in the study as associated with SIC were MYLK2, DSG2, FKTN, and LDB3. . Importantly, all of these genes were previously known to play a role in other cardiac diseases, but not in SIC.
SIC, also known as or Takotsubo cardiomyopathy, is a poorly understood, and likely under-diagnosed, phenomenon.
Kalani said that SIC was challenge to treat in the critically ill patient, in part because the treatment might exacerbate the sickness, adding that a blood-based biomarker for SIC had been elusive until recently and could greatly aid with early identification of patients at risk.
The study is published in the Journal Neurosurgery.
