A series of cases of transthyretin amyloid cardiomyopathy with negative bone scintigraphy but a confirmed positive endomyocardial biopsy

• Published in: Orphanet journal of rare diseases 2024-10, Vol.19 (1), p.381-10, Article 381
• Main Authors: Fraix, Antoine, Itti, Emmanuel, Zaroui, Amira, Kharoubi, Mounira, Poullot, Elsa, Lerman, Lionel, Guendouz, Soulef, Huttin, Olivier, Damy, Thibaud, Galat, Arnault
• Format: Article
• Language: English
• Subjects: Aged; Aged, 80 and over; Amyloid Neuropathies, Familial - diagnostic imaging; Amyloid Neuropathies, Familial - metabolism; Amyloid Neuropathies, Familial - pathology; Amyloidosis; Biopsy; Bone and Bones - diagnostic imaging; Bone and Bones - metabolism; Bone and Bones - pathology; Cardiac patients; Cardiomyopathies - diagnostic imaging; Cardiomyopathies - metabolism; Cardiomyopathies - pathology; Cardiomyopathy; Case series; Case studies; Diagnosis; Female; Heart; Heart diseases; Humans; Male; Medical research; Medicine, Experimental; Middle Aged; Mutation; Myocardium - metabolism; Myocardium - pathology; Negative bone scintigraphy; Prealbumin - metabolism; Radioisotope scanning; Radionuclide Imaging - methods; Retrospective Studies; Risk factors; Transthyretin amyloid cardiomyopathy
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-024-03401-9

Bone scintigraphy (BS) is established as an accurate, non-invasive method for the diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM). In a real-life setting, however, some patients with no cardiac uptake on BS turn out to have cardiac-biopsy-confirmed ATTR-CM. We retrospectively included all patients diagnosed at the French Referral Center for ATTR-CM and who had data for BS and a cardiac biopsy. Of 271 patients with positive cardiac biopsy, 14 (5%) had no cardiac uptake on Tc-hydroxymethylene diphosphonate BS. Cardiac uptake was found in four of the seven patients who had a second BS assessment with Tc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD). A retrospective review of the BS data found low cardiac uptake in four patients (two with HMDP and two with both radiotracers). Ultimately, six of the 14 patients with a biopsy-confirmed diagnosis of ATTR-CM did not show any cardiac radiotracer uptake. An endomyocardial biopsy may be necessary for confirming the diagnosis of ATTR-CM in patients with clinical and imaging signs of cardiac amyloidosis but no cardiac radiotracer uptake in BS.