Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy

<b>Background:</b> Bisphosphonate scintigraphy (BS) is a recognized tool for diagnosing amyloid transthyretin cardiomyopathy (ATTR-CA). However, its sensitivity for rare transthyretin (TTR) variants, like Glu54Gln, remains underexplored. <b>Methods</b>: This was a retrospective descriptive study including all known patients with the Glu54Gln variant diagnosed between 2017 and 2023 in Romania, aiming to evaluate the diagnostic performance of BS in Glu54Gln ATTR-CA. <b>Results</b>: All symptomatic patients (<i>n</i> = 22) with histologically confirmed ATTR-CA had positive BS results (100% sensitivity). No false negatives were observed in asymptomatic carriers (<i>n</i> = 4). The Perugini visual score correlated with disease severity, with grade 3 scores associated with advanced cardiac involvement. We proposed a new parameter, heart-to-liver-uptake (H/L) ratio, which proved a strong positive correlation with both the heart-to-contralateral-uptake (H/CL) ratio (R<sup>2</sup> = 0.768, <i>p</i> < 0.001) and interventricular septum thickness (R<sup>2</sup> = 0.584, <i>p</i> < 0.001) and a weak correlation with the global longitudinal strain (R<sup>2</sup> = 0.212, <i>p</i> = 0.023). <b>Conclusions</b>: BS demonstrates high diagnostic accuracy for Glu54GlnATTR-CA, underscoring its utility in early diagnosis and clinical management. The H/L ratio presents a novel approach to semiquantitative analysis of bisphosphonate uptake in cardiac amyloidosis, potentially addressing key limitations of the traditional H/CL ratio.

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Journal
Journal of Clinical Medicine
Published
2025-05-26
DOI
https://doi.org/10.3390/jcm14113734
Primary Topic
Amyloidosis: Diagnosis, Treatment, Outcomes
Type
article
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article

Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy

Sorina Bădeliță, Camelia Dobrea, Irena Grierosu, Gabriela Neculae et al.
1 links
Journal of Clinical Medicine
Amyloidosis: Diagnosis, Treatment, Outcomes
article

Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy

Sorina Bădeliță, Camelia Dobrea, Irena Grierosu, Gabriela Neculae, Cipriana Ștefănescu, Sebastian Onciul, Ana-Maria Stătescu, Robert Adam, Ruxandra Jurcuţ, Claudiu Stan, D. Stanescu, Daniel Coriu, Răzvan Alexandru Capşa, Mirela Drăghici, Andreea Jercan, Mihai Guțu, Alessia Argirò, Francesco Cappelli, Cristina Chirion, Teodor-Marian Ionescu
article en

Abstract

<b>Background:</b> Bisphosphonate scintigraphy (BS) is a recognized tool for diagnosing amyloid transthyretin cardiomyopathy (ATTR-CA). However, its sensitivity for rare transthyretin (TTR) variants, like Glu54Gln, remains underexplored. <b>Methods</b>: This was a retrospective descriptive study including all known patients with the Glu54Gln variant diagnosed between 2017 and 2023 in Romania, aiming to evaluate the diagnostic performance of BS in Glu54Gln ATTR-CA. <b>Results</b>: All symptomatic patients (<i>n</i> = 22) with histologically confirmed ATTR-CA had positive BS results (100% sensitivity). No false negatives were observed in asymptomatic carriers (<i>n</i> = 4). The Perugini visual score correlated with disease severity, with grade 3 scores associated with advanced cardiac involvement. We proposed a new parameter, heart-to-liver-uptake (H/L) ratio, which proved a strong positive correlation with both the heart-to-contralateral-uptake (H/CL) ratio (R<sup>2</sup> = 0.768, <i>p</i> < 0.001) and interventricular septum thickness (R<sup>2</sup> = 0.584, <i>p</i> < 0.001) and a weak correlation with the global longitudinal strain (R<sup>2</sup> = 0.212, <i>p</i> = 0.023). <b>Conclusions</b>: BS demonstrates high diagnostic accuracy for Glu54GlnATTR-CA, underscoring its utility in early diagnosis and clinical management. The H/L ratio presents a novel approach to semiquantitative analysis of bisphosphonate uptake in cardiac amyloidosis, potentially addressing key limitations of the traditional H/CL ratio.

Journal of Clinical MedicineVol. 14(11)
Ştefan cel Mare University of Suceava (RO), Carol Davila University of Medicine and Pharmacy (RO), Clinical Emergency Hospital Bucharest (RO), Grigore T. Popa University of Medicine and Pharmacy (RO), Institutul de Urgenţă pentru Boli Cardiovasculare "Prof.Dr. C.C. Iliescu" (RO), Azienda Ospedaliero-Universitaria Careggi (IT), Spitalul Clinic Judeţean de Urgenţe "Sf. Spiridon" Iaşi (RO), Institutul Clinic Fundeni (RO), University of Florence (IT)
Good health and well-being
Openalex Percentile: Top 89%
Amyloidosis: Diagnosis, Treatment, Outcomes
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