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Delayed Recognition of Transthyretin Cardiac Amyloidosis: Clinical and Diagnostic Insights from a DPD Scintigraphy Cohort
Session:
Sessão de Posters 08 - Amiloidose cardíaca por transtirretina: diagnóstico e reconhecimento da doença
Speaker:
Pedro Miguel Ventura
Congress:
CPC 2026
Topic:
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Theme:
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Session Type:
Posters Eletrónicos
FP Number:
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Authors:
Mariana Salvador; Pedro Miguel Ventura; João Borges-Rosa; Rodolfo Silva; Maria João Cunha; Lino Gonçalves; Gracinda Costa; Maria João Vidigal Ferreira
Abstract
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-family:"Arial",sans-serif">Background:</span></strong><span style="font-family:"Arial",sans-serif"> Early diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) is crucial, as misfolded transthyretin deposits cause progressive heart failure. Timely recognition enables earlier intervention and better management. </span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-family:"Arial",sans-serif">Purpose:</span></strong><span style="font-family:"Arial",sans-serif"> Our aim is to characterize patients with suspected cardiac amyloidosis in a Southern European population, assessing clinical features and diagnostic patterns.</span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-family:"Arial",sans-serif">Methods:</span></strong><span style="font-family:"Arial",sans-serif"> We retrospectively studied consecutive patients screened for cardiac amyloidosis with Tc-99m-DPD scintigraphy (July 2019 to January 2025). Those with Perugini scores 2–3 were included, and detailed clinical and imaging data were collected.</span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-family:"Arial",sans-serif">Results: </span></strong><span style="font-family:"Arial",sans-serif">Over the study period, we observed a rising trend in referrals for Tc-99m-DPD scintigraphy (Figure 1). Of 454 patients, 29.3% (133 patients, 82.7% males, median age 84 [80-87] years) had a Perugini score indicative of cardiac amyloidosis (0 – 66.3%; 1 – 4.4%; 2 – 2.2%; 3 – 27.1%). At the time of diagnosis, only two patients were younger than 65 years (1.5%): one with hereditary ATTR-CM and the sole patient in this cohort with suspected serum amyloid A amyloidosis (AA-CA). Most patients had atrial fibrillation (71.4%), 30.8% had a pacemaker, and 24.1% had coronary artery disease (14.3% prior acute coronary syndrome). Echocardiography showed severe left ventricular hypertrophy (≥15 mm) in 71.4% (only one patient had <12 mm); left ventricle ejection fraction ≤50% in 53.4%, severe left atrium dilation in 48.9%, systolic pulmonary artery pressure ≥35 mmHg in 47.4%, and mean E/e’ ≥13 in 87.8%. Thirty-two had moderate-to-severe aortic stenosis (15 had a history of transcatheter aortic valve implantation). Of 17 patients undergoing cardiac magnetic resonance, 13 (76.5%) had suggestive late gadolinium enhancement. Ninety-three patients (69.9%) had hematological testing, positive in 19 (14.3%): 13 monoclonal gammopathy of undetermined significance, 1 multiple myeloma, 1 lymphocytic leukemia, and 3 uncertain. Twenty-four (18%) underwent genetic testing, with only one showing a pathogenic TTR mutation (c.418G>T, p.Ala140Ser). Notably, only three patients with Perugini 2–3 and a positive hematology test received genetic testing.</span></span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-family:"Arial",sans-serif">Conclusion:</span></strong><span style="font-family:"Arial",sans-serif"> Many patients with cardiac amyloidosis detected by DPD scintigraphy were not tested for AL or hereditary forms, highlighting gaps in diagnostic pathways. Late diagnosis and severe echocardiographic findings underscore the need for earlier detection. </span></span></span></p>
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