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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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Sixteen TTR-mutation carriers (mean age 51\u2009\u00b1\u20099\u00a0years, 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\u2009=\u2009PADO-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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Time to PADO was 30\u2009\u00b1\u200915\u00a0years. Nine subjects showed abnormal GLS (&gt;\u2009\u221220%), unrelated to age, LVMi, MWT, E\/e\u2019, NT-proBNP or Time-to PADO. QST findings were abnormal in most subjects. At a worse cold pain threshold corresponded a worse GLS (r\u2009=\u20090.786, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). Perugini score was positive in 1 subject.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>GLS 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.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03473-7","type":"journal-article","created":{"date-parts":[[2024,12,5]],"date-time":"2024-12-05T07:51:42Z","timestamp":1733385102000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis"],"prefix":"10.1186","volume":"19","author":[{"given":"Grazia","family":"Canciello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Tozza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaetano","family":"Todde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Nolano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felice","family":"Borrelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Palumbo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella","family":"Lombardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Cassano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanda","family":"Acampa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Esposito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1442-9604","authenticated-orcid":false,"given":"Fiore","family":"Manganelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Angela","family":"Losi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,5]]},"reference":[{"issue":"Suppl 2","key":"3473_CR1","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1007\/s10072-020-04889-2","volume":"43","author":"F Manganelli","year":"2022","unstructured":"Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D. 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