ArticleOrphanet journal of rare diseases2024
Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Automated machine learning of echocardiographic strain enables identification of early myocardial changes in pre-symptomatic TTR carriers.medRxiv : the preprint server for health sciences · 2026Article
- Parallel Neurological and Cardiac Progression in Hereditary Transthyretin Amyloidosis: An Integrated Clinical and Imaging Study.Diagnostics (Basel, Switzerland) · 2025Article
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Authors and funding
12 authors.
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Abstract
backgroundHereditary transthyretin (ATTRv) amyloidosis is rare, autosomal dominant disease with a fatal outcome if left untreated. Early stages detection is crucial for intervention. We aimed identifying early indexes of cardiac involvement and their eventual correlation with neurological indexes, in pre-symptomatic subjects with TTR gene mutation.
methodsSixteen TTR-mutation carriers (mean age 51 ± 9 years, 6 males, 7 with Val30Met and 9 with Phe64Leu mutation) without left ventricular hypertrophy were studied. Predicted Age of Disease Onset (PADO) and time to PADO (Time-to PADO = PADO-age at evaluation) were computed. Subjects underwent: cardiological and echocardiographic assessment including global longitudinal strain (GLS); tactile and thermal quantitative sensory testing (QST); Perugini score by bone scintigraphy.
resultsTime to PADO was 30 ± 15 years. Nine subjects showed abnormal GLS (> -20%), unrelated to age, LVMi, MWT, E/e', NT-proBNP or Time-to PADO. QST findings were abnormal in most subjects. At a worse cold pain threshold corresponded a worse GLS (r = 0.786, p < 0.001). Perugini score was positive in 1 subject.
conclusionsGLS and QST findings support an early involvement of heart and small nerve fibers even many years before PADO. Interestingly, cardiac impairment seems to parallel that of small, nerve fibers, at least in the earliest stage of disease.
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