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Rare genetic variants predispose to sudden cardiac death


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Sudden cardiac deaths annually affect 220,000 US adults, most of whom have no previous symptoms of a heart problem. By identifying rare variants of DNA that significantly increase the risk of sudden cardiac death, researchers led by the Massachusetts General Hospital (MGI) and the MIT and Harvard Institute of Broadcasters laid the foundations for attempts to identify faces Benefit from prevention strategies before experiencing symptoms.

Scientists have also found that such variants are present in approximately 1% of asymptomatic adults – corresponding to 3 million people in the United States.

The findings are presented at the American Heart Association Scientific Sessions and published in Journal of the American College of Cardiology.

The authors sequenced the gene in 600 cases of sudden cardiac death and 600 controls that remained healthy – the largest such study to date and the first used a control group. A clinical geneticist reviewed all identified DNA variants, classifying 15 as clinically relevant pathogenic variants.

"Astonishingly, all 15 of these pathogenic variants were in sudden cases of cardiac death without any controls," lead author Amit V. said. Kera, PhD, cardiologist and associate director of the Department of Precision Medicine at the MGG Genomic Medicine Center and the Institute's Cardiovascular Disease Initiative. The prevalence of the pathogenic variant was found to be 2.5% in cases and 0% in controls.

Next, the researchers studied the genes of 4,525 middle-aged adults without any signs of heart disease, finding that 41 (0.9 percent) carry a pathogenic variant. These individuals have been followed for more than 14 years, and those who inherited the pathogenic variant have more than 3 times the risk of dying from cardiovascular causes.

"In my clinical practice, I often come across families destroyed by sudden and unexpected deaths. This finding shows that genetic testing – if widely available – can provide a way to identify high-risk individuals currently flying under the radar. identify, we have proven different approaches to prevent the emergence of diseases available within routine clinical practice, "said Kera.

In addition to Khera, the research team was led by Sekar Katireesan, PhD, CEO of Verve Therapeutics; Dr. Anthony Filipakis, cardiologist and chief data officer at the Broad Institute; and Christine Albert, Ph.D., Chair of Cardiology at the Smith Heart Institute in Cedar-Sinai.

Based on these results, Khera and colleagues plan to conduct genetic tests to sequester thousands of adult patients at MGH and affiliated hospitals who have volunteered for a research program designed to understand how genetic and environmental factors influence the risk of important diseases. They aim to find 1% of people with rare genetic variants related to heart disease and to offer tailor-made prevention programs in the Cardiovascular Genetics Program or a new MGH Preventive Genomics Clinic that Kera is co-leading and integrated into primary care. .

"Our hope is to empower our patients to better understand, predict and prevent bad health outcomes – especially irreversible tragedies such as sudden cardiac death – with the help of genetic information," Kera said.

Molecular autopsy can shed light on sudden death in young people

More info:
Amit W. Kera et al., Rare genetic variants associated with sudden cardiac death in adults, Journal of the American College of Cardiology (2019). DOI: 10.1016 / j.jacc.2019.08.1060

Provided by
Massachusetts General Hospital

Rare genetic variants predispose to sudden cardiac death (2019, November 16)
Retrieved November 16, 2019

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