Hereditary Transthyretin Amyloidosis: How to Differentiate Carriers and Patients Using Speckle-Tracking Echocardiography
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Published:2023-12-09
Issue:24
Volume:13
Page:3634
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ISSN:2075-4418
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Container-title:Diagnostics
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language:en
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Short-container-title:Diagnostics
Author:
Di Lisi Daniela12ORCID, Brighina Filippo3ORCID, Manno Girolamo12, Comparato Francesco12, Di Stefano Vincenzo3ORCID, Macaione Francesca12, Damerino Giuseppe12, Di Caccamo Leandro12, Cannizzo Noemi12, Ortello Antonella12, Galassi Alfredo R.12, Novo Giuseppina12
Affiliation:
1. Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy 2. Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) “G. D’Alessandro”, University of Palermo, 90127 Palermo, Italy 3. Section of Neurology, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, 90127 Palermo, Italy
Abstract
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–control 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—GLS, 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.
Subject
Clinical Biochemistry
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