Heart failure & cardiomyopathies
Family Screening in Hypertrophic Cardiomyopathy: Identification of Relatives With Low Yield From Systematic Follow-Up
Authors' conclusion
In HCM, the diagnostic yield of a single screening visit was 1 in 4, and the additional yield during 7 years of follow-up was 4%. Gene carriers and relatives from gene-elusive families with a baseline MWT of ≥10 mm were at the highest risk of developing HCM during follow-up.
Study context
- Population
- Relatives of hypertrophic cardiomyopathy (HCM) patients screened at inherited cardiomyopathy clinics in Eastern Denmark, 2006–2023531 families
- Participants
- 1,230 relatives
- Outcome
- Diagnostic yield of family screening and predictors of HCM development during follow-up
Main finding
As reported in the abstract
Combined clinical and genetic yield at baseline
26%
n = 321
Additional relatives developing HCM after 7 years (mean) of follow-up (6,762 person-years)
43
4%
Predictor: likely pathogenic/pathogenic variant, HR
4.58
95% CI 2.50–8.40; P < 0.001
Predictor: larger LV maximum wall thickness, HR per mm
2.21
95% CI 1.76–2.77; P < 0.001
Observational data: associations, not effects.
Further findings
Maximum wall thickness (MWT) ≥10 mm as threshold for developing HCM (gene-elusive families)
- AUC
- 0.80
- Relatives with MWT <10 mm developing HCM during follow-up
- 2 (0.4%)
Original publication
Summarised from the published abstract; every number is checked against it