Maria Beatrice Musumeci1, Francesco Cappelli2, Domitilla Russo1, Giacomo Tini3, Marco Canepa3, Agnese Milandri4, Rachele Bonfiglioli5, Gianluca Di Bella6, Filomena My7, Marco Luigetti8, Marina Grandis9, Camillo Autore1, Stefano Perlini10, Federico Perfetto11, Claudio Rapezzi4. 1. Cardiology Department, Clinical and Molecular Medicine Department, Sapienza University of Rome, Rome, Italy. 2. Tuscan Regional Amyloidosis Centre, Careggi University Hospital, Florence, Italy. Electronic address: cappellif@aou-careggi.toscana.it. 3. Cardiovascular Disease Unit, IRCCS Ospedale Policlinico San Martino, and IRCCS Italian Cardiovascular Network & Department of Internal Medicine, University of Genova, Genova, Italy. 4. Cardiology, Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater University of Bologna, Bologna, Italy. 5. Nuclear Medicine, Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater University of Bologna, Bologna, Italy. 6. Clinical and Experimental Department of Medicine and Pharmacology, University of Messina, Messina, Italy. 7. Division of Neurology, Vito Fazzi Hospital, Lecce, Italy. 8. Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Rome, Italy; Università Cattolica del Sacro Cuore, Sede di Roma, Rome, Italy. 9. Department of Neurology, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genova, Italy; IRCCS Ospedale Policlinico San Martino, Genova, Italy. 10. Emergency Medicine, Department of Internal Medicine, Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy. 11. Tuscan Regional Amyloidosis Centre, Careggi University Hospital, Florence, Italy.
Abstract
OBJECTIVES: The aim of this study was to assess the diagnostic accuracy of bone scintigraphy in a large multicenter cohort of patients with cardiac amyloidotic involvement and Phe64Leu transthyretin (TTR) mutation. BACKGROUND: Diagnostic accuracy of bone scintigraphy for transthyretin-related cardiac amyloidosis (TTR-CA) is considered extremely high, enabling this technique to be the noninvasive diagnostic standard for TTR-CA. Nevertheless, this approach has not been systematically validated across the entire spectrum of TTR mutations. METHODS: A total of 55 patients with Phe64Leu TTR mutation were retrospectively analyzed and evaluated between 1993 and 2018 at 7 specialized Italian tertiary centers. Cardiac involvement was defined as presence of an end-diastolic interventricular septum thickness ≥12 mm, without other possible causes of left ventricular hypertrophy (i.e., arterial hypertension or valvulopathies). A technetium-99m (99mTc)-diphosphonate (DPD) or 99mTc-hydroxyl-methylene-diphosphonate (HMDP) bone scintigraphy was reviewed, and visual scoring was evaluated according to Perugini's method. RESULTS: Among 26 patients with definite cardiac involvement, 19 underwent 99mTc-DPD or 99mTc-HMDP bone scintigraphy. Of them, 17 (89.5%) patients had low or absent myocardial bone tracer uptake, whereas only 2 (10.5%) showed high-grade myocardial uptake. The sensitivity and the accuracy of bone scintigraphy in detecting TTR-CA were 10.5% and 37%, respectively. Patients with cardiac involvement and low or absent bone tracer uptake were similar to those with high-grade myocardial uptake in terms of age, sex, and electrocardiographic and echocardiographic findings. CONCLUSIONS: The sensitivity of bone scintigraphy (DPD and HMDP) in detecting TTR-CA is extremely low in patients with Phe64Leu TTR mutation, suggesting the need to assess diagnostic accuracy of bone scintigraphy to identify cardiac involvement across a wider spectrum of TTR mutations.
OBJECTIVES: The aim of this study was to assess the diagnostic accuracy of bone scintigraphy in a large multicenter cohort of patients with cardiac amyloidotic involvement and Phe64Leutransthyretin (TTR) mutation. BACKGROUND: Diagnostic accuracy of bone scintigraphy for transthyretin-related cardiac amyloidosis (TTR-CA) is considered extremely high, enabling this technique to be the noninvasive diagnostic standard for TTR-CA. Nevertheless, this approach has not been systematically validated across the entire spectrum of TTR mutations. METHODS: A total of 55 patients with Phe64LeuTTR mutation were retrospectively analyzed and evaluated between 1993 and 2018 at 7 specialized Italian tertiary centers. Cardiac involvement was defined as presence of an end-diastolic interventricular septum thickness ≥12 mm, without other possible causes of left ventricular hypertrophy (i.e., arterial hypertension or valvulopathies). A technetium-99m (99mTc)-diphosphonate (DPD) or 99mTc-hydroxyl-methylene-diphosphonate (HMDP) bone scintigraphy was reviewed, and visual scoring was evaluated according to Perugini's method. RESULTS: Among 26 patients with definite cardiac involvement, 19 underwent 99mTc-DPD or 99mTc-HMDP bone scintigraphy. Of them, 17 (89.5%) patients had low or absent myocardial bone tracer uptake, whereas only 2 (10.5%) showed high-grade myocardial uptake. The sensitivity and the accuracy of bone scintigraphy in detecting TTR-CA were 10.5% and 37%, respectively. Patients with cardiac involvement and low or absent bone tracer uptake were similar to those with high-grade myocardial uptake in terms of age, sex, and electrocardiographic and echocardiographic findings. CONCLUSIONS: The sensitivity of bone scintigraphy (DPD and HMDP) in detecting TTR-CA is extremely low in patients with Phe64LeuTTR mutation, suggesting the need to assess diagnostic accuracy of bone scintigraphy to identify cardiac involvement across a wider spectrum of TTR mutations.
Authors: Marcus V Simões; Fabio Fernandes; Fabiana G Marcondes-Braga; Philip Scheinberg; Edileide de Barros Correia; Luis Eduardo P Rohde; Fernando Bacal; Silvia Marinho Martins Alves; Sandrigo Mangini; Andréia Biolo; Luis Beck-da-Silva; Roberta Shcolnik Szor; Wilson Marques Junior; Acary Souza Bulle Oliveira; Márcia Waddington Cruz; Bruno Vaz Kerges Bueno; Ludhmila Abrahão Hajjar; Aurora Felice Castro Issa; Felix José Alvarez Ramires; Otavio Rizzi Coelho Filho; André Schmidt; Ibraim Masciarelli Francisco Pinto; Carlos Eduardo Rochitte; Marcelo Luiz Campos Vieira; Cláudio Tinoco Mesquita; Celso Dario Ramos; José Soares-Junior; Minna Moreira Dias Romano; Wilson Mathias Junior; Marcelo Iório Garcia Junior; Marcelo Westerlund Montera; Marcelo Dantas Tavares de Melo; Sandra Marques E Silva; Pedro Manoel Marques Garibaldi; Aristóteles Comte de Alencar Neto; Renato Delascio Lopes; Diane Xavier de Ávila; Denizar Viana; José Francisco Kerr Saraiva; Manoel Fernandes Canesin; Glaucia Maria Moraes de Oliveira; Evandro Tinoco Mesquita Journal: Arq Bras Cardiol Date: 2021-09 Impact factor: 2.000
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Authors: Timothy J Poterucha; Pierre Elias; Sabahat Bokhari; Andrew J Einstein; Albert DeLuca; Mona Kinkhabwala; Lynne L Johnson; Kathleen R Flaherty; Sunil E Saith; Jan M Griffin; Adler Perotte; Mathew S Maurer Journal: JACC Cardiovasc Imaging Date: 2020-11-18