Increased genetic testing could identify hidden cardiomyopathy

Journal of the American College of Cardiology (2022). DOI: 10.1016/j.jacc.2022.09.029″ width=”800″ height=”530″/>

Central illustration. Credit: Journal of the American College of Cardiology (2022). DOI: 10.1016/j.jacc.2022.09.029

Centenary Institute researchers have found that hidden cardiomyopathy is an important cause of sudden cardiac death in which no cause is found by autopsy, and genetic testing can help identify cases of hidden cardiomyopathy providing a cause of death and also helps guide the care of relative survivors.

Published in Journal of the American College of CardiologyThe researchers’ study performed genetic tests on victims of sudden cardiac death in which autopsy results were inconclusive.

The study found that in 22 percent of cases of undetermined sudden cardiac death by autopsy, a disease-causing gene linked to sudden cardiac death could be identified. Seventy percent of these were genetic variants associated with cardiomyopathy (diseases of the heart muscle that can cause fatal heart rhythms) that would not be routinely tested.

Dr. Julia Isbister, a research scientist at the Agnes Ginges Center for Molecular Cardiology and lead author of the study, said genetic testing guidelines currently only recommend genetic testing for cardiomyopathy genes when physical signs of cardiomyopathy can be seen. during the autopsy examination.

“The problem with this approach is that the deadly heart rhythms in these conditions can occur before the changes to the heart muscle that would be detected at autopsy,” said Dr. Isbister.

“That is, that the heart appears structurally normal when sighted at autopsy, but the victim has an underlying genetic change that explains her death.”

The researchers say that without visible cardiomyopathy changes seen at autopsy, genetic testing of the cardiomyopathy gene is not currently recommended or routinely done. This risks missing hidden cardiomyopathy, leaving unsolved cases.

“We believe that genetic testing of unexplained sudden cardiac death cases after autopsy should be more extensive so that hidden cardiomyopathy can be identified. Identifying the cause of death also helps us provide optimal care for surviving relatives,” he said. stated Dr. Isbister.

“Where a genetic heart condition is identified, family screening and targeted management of at-risk relatives can be undertaken to prevent further family tragedies, while unaffected family members can be reassured that they are not at risk and released from follow-up, she he explained.

In the study, family members of victims of sudden cardiac death (in which a genetic cause of death was identified) were also genetically tested. It was found that 43% of the relatives tested had the same genetic variant that causes the disease and are closely followed up, receiving targeted treatment.

The study’s senior author, Professor Christopher Semsarian AM, head of the Centenary Institute’s Agnes Ginges Center for Molecular Cardiology and a cardiologist at the Royal Prince Alfred Hospital (Sydney) and the University of Sydney, said this demonstrated the l importance of genetic testing for surviving family members.

“Our research highlights the broad spectrum of genes implicated in sudden cardiac death including autopsy and the importance of identifying hidden cardiomyopathy for the continued care of families of sudden cardiac death,” said Professor Semsarian.

“Sudden cardiac death is a tragedy, but increased genetic testing can provide certainty and closure as to why the death occurred, as well as guide us in taking the appropriate next steps in the care of family members with the same genetic problems.” “.

More information:
Julia C. Isbister et al, Hidden cardiomyopathy in autopsy-inconclusive cases of sudden cardiac death and implications for families, Journal of the American College of Cardiology (2022). DOI: 10.1016/j.jacc.2022.09.029

Provided by Centenary Institute

Citation: Increased Genetic Testing Could Identify Hidden Cardiomyopathy (2022, Nov 25) Retrieved Nov 25, 2022 from

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