Mayo Clinic research solves deadly Amish medical mystery
Research led by Mayo Clinic has solved a twodecade-old mystery about why so many otherwise healthy children and young people in Amish communities have been suffering sudden unexplained cardiac deaths.
Examining the DNA of four Amish siblings who suffered cardiac deaths while playing or exercising, researchers found they all had a duplication of specific genetic material that put them at risk.
Further research found the same genetic defect in children from other Amish families who suffered unexplained cardiac deaths – and that the defect could be passed down only if both birth parents carried the defect.
Genetic testing wasn’t sophisticated enough to find the defect after the deaths of the first two adolescents in 2004, and before the more recent deaths of two of their siblings. But the discovery now provides a way to find out if future generations of children are at risk, said
Dr. Michael Ackerman of Mayo’s Windland Smith Rice Sudden Death Genomics Laboratory.
“What we have for this community is a gold standard biomarker for them to figure out who are the carriers,” he said. He said there are no known heart scans or tests that identify the at-risk children.
The genetic defect in these children is linked to the practice in some Amish communities of close relatives marrying and having children together.
Screening and genetic counseling could dissuade carriers of the defect from having children together, though Ackerman said that could be disruptive to the Amish social order. He said researchers hope that ongoing work will find medications or treatments that can protect at-risk children.
Families also can consider having defibrillators implanted in children who received “double doses” of the genetic defect from their parents.
The discovery was reported in the medical Journal JAMA Cardiology.