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The role of endomyocardial biopsy in familial amyloid polyneuropathy: diagnostic yield, safety, and clinical impact in a contemporary referral centre
Session:
Sessão de Posters 08 - Amiloidose cardíaca por transtirretina: diagnóstico e reconhecimento da doença
Speaker:
PEDRO CARVALHO MONTEIRO
Congress:
CPC 2026
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
17. Myocardial Disease
Subtheme:
17.3 Myocardial Disease – Diagnostic Methods
Session Type:
Posters Eletrónicos
FP Number:
---
Authors:
Pedro Monteiro; Clara Teixeira; Tiago Peixoto; Diana Ribeiro; Mariana Pereira Santos; David Sá Couto; Sara Fernandes; Marta Oliveira; Raquel Baggen Santos; João Silveira; André Luz; Patrícia Rodrigues
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong><span style="font-size:11.0pt">Introduction: </span></strong><span style="font-size:11.0pt">Endomyocardial biopsy (EMB) has become less frequently used in the era of advanced cardiac imaging, yet it remains a key diagnostic tool in certain clinical scenarios. In familial amyloid polyneuropathy (FAP), cardiac involvement can pose a diagnostic challenge, as non-invasive tests may lack sensitivity, highlighting the need to clarify the contemporary role of EMB in this setting.</span></span></span></p> <p style="text-align:justify"> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong><span style="font-size:11.0pt">Methods: </span></strong><span style="font-size:11.0pt">We conducted a retrospective single-centre analysis of all patients with FAP assessed in the specialised Cardiology outpatient clinic of a national referral hospital between January 2019 and October 2025. Clinical records were reviewed for cardiac amyloidosis (CA) suspicion and confirmation, and patients who underwent EMB were characterised in greater detail.</span></span></span></p> <p style="text-align:justify"> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong><span style="font-size:11.0pt">Results:</span></strong><span style="font-size:11.0pt"> Among 487 patients, echocardiographic suspicion of CA was present in 244 (50.1%); 95.9% underwent DPD scintigraphy, which was negative in 63.7%. Liver-transplanted patients had a significantly higher likelihood of a negative result (91.2% vs 38.0%, p<0.001). Cardiac MRI was frequently contraindicated due to non-compatible pacemaker systems. Thirty-seven patients with persistent clinical and echocardiographic suspicion, negative scintigraphy, and a need for diagnostic confirmation were referred for EMB. These patients were predominantly male (75.7%) and transplanted (91.9%), with a mean age of 54.0 ± 8.2 years. Mean septal wall thickness was 14.8 ± 2.0 mm and left atrial volume index 41.5 ± 10.6 mL/m<sup>2</sup>; right ventricular hypertrophy was present in 24.3%. Median NT-proBNP was 653 pg/mL (IQR 325-2368) and mean troponin T 0.048 ± 0.027 ng/mL. In two patients, the procedure could not be completed and EMB was not performed; among 35 biopsies, 34 confirmed CA, yielding a 97.1% diagnostic rate. Three complications occurred, none resulting in major adverse cardiovascular events. Histological confirmation of CA led to therapeutic changes in most patients, with 18 started on targeted therapy and the remainder undergoing evaluation.</span></span></span></p> <p style="text-align:justify"> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong><span style="font-size:11.0pt">Discussion and conclusion: </span></strong><span style="font-size:11.0pt">Cardiac involvement in FAP is frequent and difficult to diagnose when non-invasive tests are negative, particularly in liver-transplanted patients, in whom scintigraphy is less sensitive. When used appropriately, EMB provides near-definitive diagnostic yield with an acceptable safety profile, enabling timely initiation of disease-modifying therapy, and should therefore be considered early when scintigraphy is negative and suspicion remains high. </span></span></span></p>
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