Heart failure & cardiomyopathiesDiagnostic or prognostic study
MRI-derived wall thickness heterogeneity in hypertrophic cardiomyopathy and in carriers of sarcomeric gene mutations
- Cardiac magnetic resonance diagnostic study
- age- and sex-specific thresholds
Authors' conclusion
WTSD is a robust imaging biomarker that detects both overt and early sarcomeric HCM with high accuracy. Incorporating WT heterogeneity into diagnostic algorithms may enhance early identification, especially in women and mutation carriers.
Study context
- Population
- Healthy controls, patients with hypertrophic cardiomyopathy (HCM), sarcomere mutation carriers without overt hypertrophy, and patients with other cardiac conditionshealthy controls 382 · patients with HCM 297 · sarcomere mutation carriers without overt hypertrophy 82 · patients with other cardiac conditions 180
- Participants
- 297 / 82 / 382 / 180
- Comparison
- Diagnostic performance was compared with other wall thickness (WT)-derived parameters using age- and sex-specific thresholds
- HCMn = 297
- mutation carriersn = 82
- controlsn = 382
- other cardiac conditionsn = 180
Performance
As reported in the abstract
WTSD
- Wall thickness standard deviation (WTSD) higher in HCM and mutation carriers than in controls
- P < 0.0001
Further findings
Diagnostic performance of WTSD
- HCM identified
- 97%
- carriers identified
- 64%
- specificity
- 99%
Diagnostic performance of WTSD in females
- sensitivity for HCM
- 98.9%
- specificity for HCM
- 100%
- carriers detected
- 74%
WTSD vs demographic-based thresholds and BSA-indexed maximal WT
- WTSD outperformed demographic-based thresholds and BSA-indexed maximal WT in all subgroups
Remodelling in mutation carriers
- heterogeneous remodelling with both hypertrophic and thinned segments despite normal absolute WT
WTSD vs other cardiac conditions
- significantly higher in HCM than in all cardiac conditions with LV hypertrophy and in mutation carriers vs. non-hypertrophic conditions, except post-ischaemic severe LV dysfunction
Original publication
MRI-derived wall thickness heterogeneity in hypertrophic cardiomyopathy and in carriers of sarcomeric gene mutations. Eur Heart J Cardiovasc Imaging. Published 2 April 2026. doi:10.1093/ehjci/jeag086
Summarised from the published abstract; every number is checked against it