Heart failure & cardiomyopathies
Deep Phenotyping of p.(V142I)-Associated Variant Transthyretin Amyloid Cardiomyopathy: Distinct from Wild-Type Transthyretin Amyloidosis?
Authors' conclusion
p.(V142I)-ATTRv-CM has an aggressive phenotype characterized by myocyte loss and widespread myocardial infiltration which may account for frequent biventricular failure and poor prognosis in this ATTR-CM genotypic subgroup.
Study context
- Population
- Patients with p.(V142I) ATTRv-CM attending the UK National Amyloidosis Centre, evaluated at diagnosismatched cohort
- Participants
- 413 vs 413
- Exposure
- p. ATTRv-CM vs matched ATTRwt-CM
- ATTRv-CMn = 413
- ATTRwt-CMn = 413reference
Methodological detailsmatched comparator group, single-centre (UK National Amyloidosis Centre)
- Matched comparator group
- Single-centre (UK National Amyloidosis Centre)
Main finding
As reported in the abstract
Median survival · median 5-year
P < 0.001
Observational data: associations, not effects.
Further findings
- Functional status at diagnosis (ATTRv-CM)
- 38% · NYHA class ≥ III · 6-min walk distance, median 276 m
Echocardiography and prognostic factors (ATTRv-CM)
- Biventricular impairment, high burden of regurgitant valvular disease and low cardiac output
- RV dysfunction prognostically important on multivariable analysis
- Cardiac magnetic resonance (CMR) and histology: myocyte atrophy and widespread myocardial infiltration
Original publication
Deep Phenotyping of p.(V142I)-Associated Variant Transthyretin Amyloid Cardiomyopathy: Distinct from Wild-Type Transthyretin Amyloidosis? Eur J Heart Fail. Published 28 January 2024. doi:10.
Summarised from the published abstract; every number is checked against it