• Profile
Close

Association of titin variations with late-onset dilated cardiomyopathy

JAMA Feb 15, 2022

Findings indicate that late-onset dilated cardiomyopathy could represent a specific subgroup of patients and favor the use of extensive genetic testing in older patients as it could offer crucial etiologic and prognostic information.

  • In this cohort study of 184 patients with late-onset dilated cardiomyopathy, the prevalence, type, and prognostic effect of disease-related rare variants were determined.

  • A total of 66 patients (36%) were identified to be carriers of a pathogenic or likely pathogenic (P/LP) variant.

  • Most prevalent were titin-truncating variants (present in 46 [25%] of the total population and accounting for 46 [69%] of all genotype-positive patients).

  • A median (interquartile range) follow-up of 42 (10-115) months revealed deaths of 23 patients (13%); 17 (25%) of these were carriers of P/LP variants, while 6 patients (5.1%) were genotype-negative.

  • Higher mortality was noted in patients with a positive genetic test vs genotype-negative patients.

  • Relative to the current epidemiology, findings demonstrated a high genetic variation burden, largely because of titin-truncating variants.

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