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Abstract
Amyloidotic cardiomyopathy is still a widely underdiagnosed condition that usually requires endomyocardial biopsy (EMB) for a definite diagnosis. 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) has proven highly sensitive for detecting amyloidotic cardiomyopathy due to transthyretin-related amyloid deposition. Herein we report the first description of the 99mTc-DPD scintigraphy profile in a patient with suspected amyloidotic cardiomyopathy and a final EMB- and genetically-proven diagnosis of familial apolipoprotein AI amyloidosis due to Leu174Ser variant.
Abbreviations: AL: light-chain associated amyloidosis; ApoAI: apolipoprotein AI; ATTR: hereditary transthyretin-related amyloidosis; EMB: endomyocardial biopsy; HCM: hypertrophic cardiomyopathy; HR: heart retention; H/WB: heart/whole-body retention ratio; LV: left ventricular; SPECT: single-photon emission computed tomography; SSA: senile systemic amyloidosis; 99mTc-DPD: 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid; TDI: tissue Doppler imaging; TTR: transthyretin.
Declaration of Interest: The authors report no conflicts of interest. This work was supported by: Ricerca Finalizzata Malattie Rare, Italian Ministry of Health, Istituto Superiore di Sanità (526D/63), and Ministry of Research and University (2007AESFX2_003); Grant No. 9965 from the Associazione Italiana per la Ricerca sul Cancro Special Program Molecular Clinical Oncology. C.C. Quarta received research funding from the “Istituto Nazionale per le Ricerche Cardiovascolari” (INRC), Bologna, Italy.