{Reference Type}: Case Reports
{Title}: Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece.
{Author}: Panagiotopoulos I;Papatheodorou E;Anastasakis A;Kastritis E;Gourzi P;Kontogeorgiou Z;Koutsis G;Karadima G;Koutelou M;
{Journal}: Hell J Nucl Med
{Volume}: 26
{Issue}: 2
{Year}: 2023 May-Aug
{Factor}: 1.146
{DOI}: 10.1967/s002449912585
{Abstract}: <B>OBJECTIVE: </B>Transthyretin cardiac amyloidosis (ATTR-CA) is a rare and potentially fatal disease caused by the accumulation of insoluble transthyretin (TTR) amyloid fibrils in the heart. The symptoms of ATTR-CA are often non-specific, often leading to underdiagnosis. Early diagnosis and treatment have a significant impact on disease progression and mortality.<BR><B>METHODS: </B>In this case we report a 73-year-old male presented with dyspnea on exertion. The patient had a medical history of peripheral neuropathy, bilateral carpal tunnel syndrome, spinal fusion, and a family history of coronary artery disease. Upon his presentation at the Cardiology department, cardiac echo study revealed left and right ventricular hypertrophy with pulmonary hypertension, diastolic dysfunction and a restrictive pattern. Because of the high probability of amyloidosis, the patient underwent a technetium-99m-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) bone scintigraphic study, which confirmed the diagnosis of ATTR-CA. Transthyretin gene sequencing analysis revealed the rare p. Pro24Ser pathogenic variant. Final diagnosis was ATTR-CA associated with the proline replaced by serine at position 24 (Pro24Ser) TTR variant, which is rare and only a few cases have been reported worldwide. The patient was treated with tafamidis and inotersen and followed up.<BR><B>CONCLUSIONS: </B>This case highlights the importance of considering amyloidosis as a differential diagnosis for non-specific symptoms and the need for early diagnosis and management of ATTR-CA.