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Volume 14
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10.3390/jcm14113734
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Article

Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy

by
Claudiu Stan
1,2,*,†,
Gabriela Neculae
1,3,†,
Robert-Daniel Adam
1,3,
Andreea Jercan
4,
Sorina-Nicoleta Badelita
4,
Mirela-Ramona Draghici
5,
Camelia Dobrea
6,
Sebastian Onciul
1,7,
Razvan Capşa
1,8,
Cristina Chirion
2,
Dan Stanescu
2,
Cipriana Stefanescu
9,10,
Irena-Cristina Grierosu
9,10,
Teodor-Marian Ionescu
9,
Ana-Maria Statescu
10,
Mihai Gutu
11,12,
Alessia Argiro
13,14,
Francesco Cappelli
13,14,
Daniel Coriu
1,4 and
Ruxandra Jurcuţ
1,3
1
Faculty of Medicine, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania
2
Department of Nuclear Medicine and Ultrasonography, Fundeni Clinical Institute, No. 258, 022328 Bucharest, Romania
3
Department of Cardiology, Expert Center for Rare Genetic Cardiovascular Diseases, “Prof. Dr. C.C. Iliescu” Emergency Institute for Cardiovascular Diseases, 022328 Bucharest, Romania
4
Department of Hematology, Fundeni Clinical Institute, No. 258, 022328 Bucharest, Romania
5
Department of Neurology, Fundeni Clinical Institute, No. 258, 022328 Bucharest, Romania
6
Department of Pathological Anatomy, Fundeni Clinical Institute, No. 258, 022328 Bucharest, Romania
7
Department of Cardiology, Floreasca Emergency Clinical Hospital, 014461 Bucharest, Romania
8
Department of Radiology, Fundeni Clinical Institute, No. 258, 022328 Bucharest, Romania
9
Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania
10
Department of Nuclear Medicine, “Prof. Dr. Valeriu Rusu” Emergency Clinical Hospital “St. Spiridon”, 700111 Iasi, Romania
11
Department of Nuclear Medicine, Suceava Emergency Hospital “Sf. Ioan Cel Nou”, 720224 Suceava, Romania
12
Faculty of Medicine and Biological Sciences, “Stefan Cel Mare” University of Medicine, 720229 Suceava, Romania
13
Department of Experimental and Clinical Medicine, University of Florence, 50134 Florence, Italy
14
Tuscan Regional Amyloidosis Referral Center for Cardiac Amyloidosis, Careggi University Hospital, 50134 Florence, Italy
 
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*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
J. Clin. Med. 2025, 14(11), 3734; https://doi.org/10.3390/jcm14113734
Submission received: 17 April 2025 / Revised: 14 May 2025 / Accepted: 23 May 2025 / Published: 26 May 2025
(This article belongs to the Section Cardiology)
Versions Notes

Abstract

Background: 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. Methods: 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. Results: All symptomatic patients (n = 22) with histologically confirmed ATTR-CA had positive BS results (100% sensitivity). No false negatives were observed in asymptomatic carriers (n = 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 (R2 = 0.768, p < 0.001) and interventricular septum thickness (R2 = 0.584, p < 0.001) and a weak correlation with the global longitudinal strain (R2 = 0.212, p = 0.023). Conclusions: 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.
Keywords: cardiac amyloidosis; transthyretin; bisphosphonate scintigraphy; bone scan; ATTR; Glu54Gln; H/CL ratio; H/L ratio cardiac amyloidosis; transthyretin; bisphosphonate scintigraphy; bone scan; ATTR; Glu54Gln; H/CL ratio; H/L ratio

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MDPI and ACS Style

Stan, C.; Neculae, G.; Adam, R.-D.; Jercan, A.; Badelita, S.-N.; Draghici, M.-R.; Dobrea, C.; Onciul, S.; Capşa, R.; Chirion, C.; et al. Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy. J. Clin. Med. 2025, 14, 3734. https://doi.org/10.3390/jcm14113734

AMA Style

Stan C, Neculae G, Adam R-D, Jercan A, Badelita S-N, Draghici M-R, Dobrea C, Onciul S, Capşa R, Chirion C, et al. Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy. Journal of Clinical Medicine. 2025; 14(11):3734. https://doi.org/10.3390/jcm14113734

Chicago/Turabian Style

Stan, Claudiu, Gabriela Neculae, Robert-Daniel Adam, Andreea Jercan, Sorina-Nicoleta Badelita, Mirela-Ramona Draghici, Camelia Dobrea, Sebastian Onciul, Razvan Capşa, Cristina Chirion, and et al. 2025. "Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy" Journal of Clinical Medicine 14, no. 11: 3734. https://doi.org/10.3390/jcm14113734

APA Style

Stan, C., Neculae, G., Adam, R.-D., Jercan, A., Badelita, S.-N., Draghici, M.-R., Dobrea, C., Onciul, S., Capşa, R., Chirion, C., Stanescu, D., Stefanescu, C., Grierosu, I.-C., Ionescu, T.-M., Statescu, A.-M., Gutu, M., Argiro, A., Cappelli, F., Coriu, D., & Jurcuţ, R. (2025). Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy. Journal of Clinical Medicine, 14(11), 3734. https://doi.org/10.3390/jcm14113734

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