Hereditary Transthyretin Amyloidosis: How to Differentiate Carriers and Patients Using Speckle-Tracking Echocardiography

• Published in: Diagnostics (Basel) Vol. 13; no. 24; p. 3634
• Main Authors: Di Lisi, Daniela, Brighina, Filippo, Manno, Girolamo, Comparato, Francesco, Di Stefano, Vincenzo, Macaione, Francesca, Damerino, Giuseppe, Di Caccamo, Leandro, Cannizzo, Noemi, Ortello, Antonella, Galassi, Alfredo R, Novo, Giuseppina
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 09.12.2023
• Subjects: Amyloidosis; Aortic stenosis; apical sparing; cardiac amyloidosis; Cardiology; Cardiomyopathy; Ejection fraction; Electrocardiography; Genotype & phenotype; Ischemia; Multiple myeloma; Mutation; speckle-tracking echocardiography; Statistical analysis; transthyretin; Norway; cardiac amyloidosis; apical sparing; speckle-tracking echocardiography; transthyretin
• ISSN: 2075-4418; 2075-4418
• DOI: 10.3390/diagnostics13243634

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. 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. Analyzing groups C and B, we only found a significant difference in the SAB ( -value 0.001) and RAS ( -value 0.039). These parameters were significantly more impaired in group A compared to group B (SAB -value 0.008; RAS -value 0.002). Also, atrial stiffness was significantly impaired in groups A and B compared to group C. 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.