• Profile
Close

Identification of a novel homozygous multi-exon duplication in RYR2 among children with exertion-related unexplained sudden deaths in the Amish community

JAMA Jan 16, 2020

J. Tester DJ, Bombei HM, Fitzgerald KK, et al. - In this study, researchers explored the underlying cause of multiple sudden deaths in young individuals and sudden cardiac arrests that occurred in 2 large Amish families. They enrolled two large extended Amish families with multiple sudden deaths in young individuals and sudden cardiac arrests. They distinguished a novel homozygous multiexon duplication in RYR2 young Amish individuals with exertion-related sudden deaths and sudden cardiac arrests without an overt phenotype to suggest RYR2-mediated catecholaminergic polymorphic ventricular tachycardia. They demonstrated that identification of unaffected heterozygous carriers may serve potentially lifesaving premarital counseling and reproductive planning, considering that no cardiac tests reliably distinguish at-risk patients, and given the high rate of consanguinity in Amish families.
Go to Original
Only Doctors with an M3 India account can read this article. Sign up for free or login with your existing account.
4 reasons why Doctors love M3 India
  • Exclusive Write-ups & Webinars by KOLs

  • Nonloggedininfinity icon
    Daily Quiz by specialty
  • Nonloggedinlock icon
    Paid Market Research Surveys
  • Case discussions, News & Journals' summaries
Sign-up / Log In
x
M3 app logo
Choose easy access to M3 India from your mobile!


M3 instruc arrow
Add M3 India to your Home screen
Tap  Chrome menu  and select "Add to Home screen" to pin the M3 India App to your Home screen
Okay