{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T01:27:16Z","timestamp":1792200436716,"version":"4.4.0"},"reference-count":37,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T00:00:00Z","timestamp":1702080000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Hereditary transthyretin amyloidosis is a rare disease caused by transthyretin (TTR) gene mutations. The aim of our study was to identify early signs of cardiac involvement in patients with a TTR gene mutation in order to differentiate carriers from patients with neurological or cardiac disease. Methods: A case\u2013control study was carried out on 31 subjects with the TTR mutation. Patients were divided into three groups: 23% with cardiac amyloidosis and polyneuropathy (group A), 42% with only polyneuropathy (group B) and 35% carriers (group C). Speckle-tracking echocardiography (left-ventricular global longitudinal strain\u2014GLS, atrial stiffness) was performed in all patients. The apical\/basal longitudinal strain ratio (SAB) and relative apical sparing (RAS) were assessed in all subjects. Results: Analyzing groups C and B, we only found a significant difference in the SAB (p-value 0.001) and RAS (p-value 0.039). These parameters were significantly more impaired in group A compared to group B (SAB p-value 0.008; RAS p-value 0.002). Also, atrial stiffness was significantly impaired in groups A and B compared to group C. Conclusions: Our study suggests the diagnostic role of the SAB and RAS in cardiac amyloidosis. The SAB and RAS showed a gradual increase from carriers to patients with neurological and cardiac diseases. Thus, these parameters, in addition to atrial stiffness, could be used to monitor carriers. More extensive data are needed.<\/jats:p>","DOI":"10.3390\/diagnostics13243634","type":"journal-article","created":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T11:24:43Z","timestamp":1702293883000},"page":"3634","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Hereditary Transthyretin Amyloidosis: How to Differentiate Carriers and Patients Using Speckle-Tracking Echocardiography"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4510-6805","authenticated-orcid":false,"given":"Daniela","family":"Di Lisi","sequence":"first","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5875-3126","authenticated-orcid":false,"given":"Filippo","family":"Brighina","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Girolamo","family":"Manno","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Comparato","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9805-1655","authenticated-orcid":false,"given":"Vincenzo","family":"Di Stefano","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Macaione","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Damerino","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leandro","family":"Di Caccamo","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noemi","family":"Cannizzo","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Ortello","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo R.","family":"Galassi","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Novo","sequence":"additional","affiliation":[{"name":"Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy"},{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) \u201cG. D\u2019Alessandro\u201d, University of Palermo, 90127 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Gertz, M., Adams, D., Ando, Y., Beir\u00e3o, J.M., Bokhari, S., Coelho, T., Comenzo, R.L., Damy, T., Dorbala, S., and Drachman, B.M. (2020). Avoiding misdiagnosis: Expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Fam. Pract., 21.","DOI":"10.1186\/s12875-020-01252-4"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1804","DOI":"10.1177\/2047487319884371","article-title":"Red flags in cardiac amyloidosis","volume":"27","author":"Kwok","year":"2020","journal-title":"Eur. J. Prev. 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