Heart failure & cardiomyopathies
Diagnostic Yield and Predictive Value on Left Ventricular Remodelling of Genetic Testing in Dilated Cardiomyopathy
Authors' conclusion
Our results confirm the high diagnostic yield of genetic testing in selected DCM patients and suggest that identification of P/LP variants in DCM portends poorer LVRR in response to guideline-directed medical therapy.
Study context
- Population
- Outpatients with dilated cardiomyopathy (DCM) (LV ejection fraction (LVEF) ≤40% and left ventricular (LV) dilatation not explained by CAD or other causes) at an HF outpatient clinic66 genetically tested
- Participants
- 70 outpatients
- Exposure
- P/likely pathogenic (LP) variant carriers vs non-carriers
- P/LP variantsn = 16
- Outcome
- Diagnostic yield of genetic testing (42 DCM genes, next-generation sequencing) and relationship of LV reverse remodelling with P/LP variants
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Diagnostic yield of genetic testing
- Diagnostic yield (18 P/LP variants in 16 patients)
- 24%
- Truncating TTN variants
- n = 7
- LMNA
- n = 3
- Cytoskeleton Z-disc
- n = 3
- Ion channel
- n = 2
- Motor sarcomeric
- n = 2
- Desmosomal
- n = 1
Observational data: associations, not effects.
Further findings
| Outcome | P/LP variants | No P/LP variants | P value |
|---|---|---|---|
| LV reverse remodelling: change in LVEF · median follow-up 53 months (IQR 20-111) | +1% | +14% | P = 0.0008 |
| LV reverse remodelling: change in indexed LV end-diastolic diameter · median follow-up 53 months (IQR 20-111) | −2 mm/m² | −6.5 mm/m² | P = 0.03 |
SBP, DBP and BNP · median follow-up 53 months (IQR 20-111)
- No P/LP variants: higher SBP and DBP, lower plasma BNP
Original publication
Diagnostic Yield and Predictive Value on Left Ventricular Remodelling of Genetic Testing in Dilated Cardiomyopathy. ESC Heart Fail. Published 6 June 2023. doi:10.
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