Hundreds of descendants from a 16th-century Limburg couple carry an increased risk of sudden cardiac arrest, as discovered by Limburg researchers after the death of a 43-year-old woman in 2008. Dr. Paul Volders of Maastricht UMC+ told regional broadcaster L1 that the woman seemed healthy until she suddenly collapsed.
The cause was identified as a genetic mutation, named the Worm mutation, which has been passed down in the area for generations. Women are particularly at risk, although the reason is still unknown.
Through genealogical and genetic research, it was determined that this mutation originated around 1550, approximately 18 generations ago. Volders estimates that 120 to 150 living descendants have been identified and advised to use medication and avoid strenuous activities.
In some cases, a defibrillator has been implanted. A carrier of the gene shared her experience, noting that several family members have died from the defect, and she must avoid certain triggers.
Volders encourages doctors to report patients with sudden arrhythmias, as they may also be distant descendants. Research is ongoing at Maastricht UMC+ and Maastricht University to find a solution, which could take another decade.
Source: NOS