Heart failure & cardiomyopathiesCohort study
Optimizing Screening Intervals for At-Risk Relatives of Dilated Cardiomyopathy Carrying a TTNtv
- Multicenter longitudinal screening study with multistate model development
- 7 centers
Authors' conclusion
An evidence-based genotype-specific longitudinal screening algorithm that integrates age, sex, and echocardiographic measurements may improve patient care and improve efficiency of clinical resource allocation.
Study context
- Population
- Likely pathogenic/pathogenic titin-truncating variant relatives who underwent cardiac screeningfollow-up data available in 301 relatives (median follow-up 5.7 years)
- Participants
- 413 relatives
- Exposure
- genotype-positive/phenotype-negative vs partial dilated cardiomyopathy (DCM)
Main finding
As reported in the abstract
Development of left ventricular dysfunction or dilatation, and DCM · median follow-up 5.7 years
developed left ventricular dysfunction or dilatation (of the 301 with follow-up)
24.6%
developed DCM (of the 301 with follow-up)
17.3%
Observational data: associations, not effects.
Further findings
Major adverse cardiac event after DCM diagnosis
- relatives experiencing a major adverse cardiac event after DCM diagnosis
- 16 (5.3%)
Risk factors and risk profiles
- Identified risk factors: age ≥30 years, male sex, and partial DCM
- 3 profiles: (1) relatives with partial DCM, (2) females ≥30 years and males, (3) female relatives <30 years
Screening algorithm
- recommended screening intervals
- 1, 3, and 5 years
Original publication
Optimizing Screening Intervals for At-Risk Relatives of Dilated Cardiomyopathy Carrying a TTNtv. Circ Heart Fail. Published 21 September 2026. doi:10.1161/circheartfailure.125.013822
Summarised from the published abstract; every number is checked against it