Heart failure & cardiomyopathies
Evaluation of the 2021 European Society of Cardiology (ESC) Recommendations for Family Screening in Hereditary Transthyretin Cardiac Amyloidosis
Authors' conclusion
Screening according to the 2021 ESC position statement performs well in daily clinical practice.
Study context
- Population
- Relatives at risk for ATTRv cardiomyopathy (ATTRv-CM) (carriers of a pathogenic transthyretin amyloidosis variant)median age 55.6 years, 52% male
- Participants
- 159 relatives
- Outcome
- ATTRv-CM diagnosis (cardiac tracer uptake on bone scintigraphy or transthyretin-positive cardiac biopsy)
- Follow-up
- Baseline
Methodological details10 centres
- 10 centres
Main finding
As reported in the abstract
ATTRv-CM at baseline
Relatives diagnosed with ATTRv-CM
40 of 159
25%
Observational data: associations, not effects.
Secondary outcomes
HF (NYHA ≥II) or pacemaker-requiring conduction disorders, among ATTRv-CM · baseline
- Met secondary endpoint
- 20 (50%)
Indication to screen (≤10 years before predicted onset, no extracardiac amyloidosis)
- NPV
- 97%
Other pre-screening predictors of ATTRv-CM
- Infrequently identified variants and male sex
ATTRv-CM without signs on first-line tests (ECG, echocardiogram, laboratory)
- Relatives with ATTRv-CM without signs of cardiac involvement
- 13%
Yield of serial evaluation · 3-year interval
- Yield
- 9.4%
- n = 41 relatives; follow-up 3.1 [2.2-5.2] years
Original publication
Evaluation of the 2021 ESC Recommendations for Family Screening in Hereditary Transthyretin Cardiac Amyloidosis. Eur J Heart Fail. Published 17 June 2024. doi:10.
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