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

Abstract

Abstract Background 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. Results Of 271 patients with positive cardiac biopsy, 14 (5%) had no cardiac uptake on 99mTc-hydroxymethylene diphosphonate BS. Cardiac uptake was found in four of the seven patients who had a second BS assessment with 99mTc-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. Conclusions 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.

Keywords

• Transthyretin amyloid cardiomyopathy
• Negative bone scintigraphy
• Biopsy
• Mutation
• Case series