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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Selective Cardiac Tc-99m DPD Retention With Markedly Reduced Extracardiac Uptake in Hereditary Transthyretin
Yuyoung Kim1, Jong-Ho Nam2, Kyoungjune Pak3
1Department of Internal Medicine, Pusan National University Hospital, Busan.
Abstract:
We describe a case of a 76-year-old man with genetically confirmed hereditary transthyretin amyloidosis (hATTR) due to a pathogenic TTR variant, c.97_99dup (p.Met33dup), with possible coexisting amyloid light-chain (AL) amyloidosis. Serial Technetium-99m 2,3-dicarboxypropane-1,1-diphosphonate Tc-99m DPD) scintigraphy revealed persistent grade 3 myocardial uptake but minimal extracardiac tracer accumulation in the skeletal system and intestines. Despite similar or higher heart-to-contralateral (H/CL) ratios, other patients did not exhibit this pattern, underscoring the atypical nature of the observed findings in this case. This case highlights a rare myocardial-predominant uptake phenotype, which may offer insight into the distribution of bone-avid tracers in cardiac amyloidosis.

