Background: Cardiac involvement is common in amyloidosis, and the vast majority of cases of amyloid cardiomyopathy are attributed to primary amyloidosis or transthyretin amyloidosis (ATTR). Although the coexistence of scintigraphy suggestive of ATTR with monoclonal gammopathy of undetermined significance is well documented, the correct diagnosis is still challenging in non-referral centers. Methods: We performed a retrospective study reviewing all amyloid cardiomyopathy cases diagnosed at our center over the last 5 years, and described our experience and diagnostic approach. Results: During the last 5 years, 74 patients with positive scintigraphy were identified. Of these patients, 41 were included in this study as they had all necessary tests for a complete diagnosis. Two of these 41 patients had variant ATTR and 29 had wild-type ATTR. Ten patients had monoclonal gammopathy (24.4%), and it was consequently impossible to obtain a specific diagnosis. During follow-up, 14 patients (34.1%), five of them from the monoclonal gammopathy group, died, reflecting the severity of disease. Conclusions: In patients with ATTR-suggestive scintigraphy, monoclonal gammopathy frequently occurs concomitantly, thus not allowing to establish a specific diagnosis. A biopsy could only be replaced by genetic testing in selected cases.
Background: Cardiac involvement is common in amyloidosis, and the vast majority of cases of amyloid cardiomyopathy are attributed to primary amyloidosis or transthyretin amyloidosis (ATTR). Although the coexistence of scintigraphy suggestive of ATTR with monoclonal gammopathy of undetermined significance is well documented, the correct diagnosis is still challenging in non-referral centers. Methods: We performed a retrospective study reviewing all amyloid cardiomyopathy cases diagnosed at our center over the last 5 years, and described our experience and diagnostic approach. Results: During the last 5 years, 74 patients with positive scintigraphy were identified. Of these patients, 41 were included in this study as they had all necessary tests for a complete diagnosis. Two of these 41 patients had variant ATTR and 29 had wild-type ATTR. Ten patients had monoclonal gammopathy (24.4%), and it was consequently impossible to obtain a specific diagnosis. During follow-up, 14 patients (34.1%), five of them from the monoclonal gammopathy group, died, reflecting the severity of disease. Conclusions: In patients with ATTR-suggestive scintigraphy, monoclonal gammopathy frequently occurs concomitantly, thus not allowing to establish a specific diagnosis. A biopsy could only be replaced by genetic testing in selected cases.
Authors: Pooja Phull; Vaishali Sanchorawala; Lawreen H Connors; Gheorghe Doros; Frederick L Ruberg; John L Berk; Shayna Sarosiek Journal: Amyloid Date: 2018-02-09 Impact factor: 7.141
Authors: Merrill D Benson; Joel N Buxbaum; David S Eisenberg; Giampaolo Merlini; Maria J M Saraiva; Yoshiki Sekijima; Jean D Sipe; Per Westermark Journal: Amyloid Date: 2019-01-07 Impact factor: 7.141
Authors: Joseph J Maleszewski; David L Murray; Angela Dispenzieri; Martha Grogan; Naveen L Pereira; Sarah M Jenkins; Daniel P Judge; Patrizio Caturegli; Julie A Vrana; Jason D Theis; Ahmet Dogan; Marc K Halushka Journal: Cardiovasc Pathol Date: 2012-10-24 Impact factor: 2.185
Authors: Michelle M Kittleson; Mathew S Maurer; Amrut V Ambardekar; Renee P Bullock-Palmer; Patricia P Chang; Howard J Eisen; Ajith P Nair; Jose Nativi-Nicolau; Frederick L Ruberg Journal: Circulation Date: 2020-06-01 Impact factor: 29.690
Authors: Julian D Gillmore; Mathew S Maurer; Rodney H Falk; Giampaolo Merlini; Thibaud Damy; Angela Dispenzieri; Ashutosh D Wechalekar; John L Berk; Candida C Quarta; Martha Grogan; Helen J Lachmann; Sabahat Bokhari; Adam Castano; Sharmila Dorbala; Geoff B Johnson; Andor W J M Glaudemans; Tamer Rezk; Marianna Fontana; Giovanni Palladini; Paolo Milani; Pierluigi L Guidalotti; Katarina Flatman; Thirusha Lane; Frederick W Vonberg; Carol J Whelan; James C Moon; Frederick L Ruberg; Edward J Miller; David F Hutt; Bouke P Hazenberg; Claudio Rapezzi; Philip N Hawkins Journal: Circulation Date: 2016-04-22 Impact factor: 29.690