Mayo Clinic genetic testing provided insights to sudden unexplained deaths in Amish community

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On Jan. 8, 2020, Mayo Clinic researchers reported that they had used post-mortem genetic testing to find the underlying cause of multiple sudden deaths in young people and sudden cardiac arrests in two large Amish families.

A molecular autopsy revealed a common genetic factor among all four siblings. Each had the same homozygous multiexon duplication in RYR2, as did multiple distantly related relatives who also experienced a sudden cardiac arrest during exercise. Researchers then compared a second, unrelated Amish family that also has multiple exertion-related sudden deaths and sudden cardiac arrests in the young. Genetic testing confirmed that both families possessed the exact same gene duplication.

To date, 23 family members had been identified as being affected. Of those 23 family members, 18 tragically died suddenly at a young age. The findings were published in JAMA Cardiology.

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Source: Mayo Clinic
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