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Cardiac Amyloidosis in Older Patients: Can We Predict Hereditary vs Wild-Type Subtype?
Session:
Sessão de Posters 08 - Amiloidose cardíaca por transtirretina: diagnóstico e reconhecimento da doença
Speaker:
João Reis Sabido
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:
João Reis Sabido; Diogo Ferreira; Daniel Inácio Cazeiro; Marta Vilela; João Cravo; Inês Araújo; João Fernandes Pedro; Catarina Campos; Isabel Conceição; Fausto J. Pinto; Dulce Brito; João Agostinho
Abstract
<p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><strong><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Introduction</span></span></strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">The diagnosis of transthyretin cardiac amyloidosis (ATTR-CM) is increasingly common among older adults. Genetic testing is mandatory to differentiate hereditary forms (hATTR-CM) from wild-type (wtATTR-CM). Distinguishing both forms based on clinical and echocardiographic features remains difficult, particularly in older patients where hereditary mutations may manifest later and mimic the wild-type form.</span></span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><strong><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Aim</span></span></strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">To identify clinical, laboratory, and echocardiographic parameters to differentiate hATTR-CM from wtATTR-CM and develop a predictive score to estimate the likelihood of hATTR-CM before genetic testing.</span></span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><strong><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Methods</span></span></strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Single-center retrospective observational study including patients diagnosed with ATTR-CM. All patients underwent transthyretin genotyping. </span></span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><strong><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Results</span></span></strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Among 100 patients (51% hATTR-CM and 49% wtATTR-CM), patients with hATTR-CM were significantly younger (70 ± 2 vs 81 ± 1 years; p=0.001) with fewer comorbidities, including atrial fibrillation (11 [22%] vs 35 [71%]; p=0.001). They presented with milder functional impairment (NYHA III–IV: 9 [18%] vs 16 [33%]; p=0.08), required lower diuretic doses (18 ± 3 vs 28 ± 3 mg; p=0.05), and had significantly lower NT-proBNP levels (384 [IQR 202–996] vs 1971 [IQR 1071–3865] pg/mL; p=0.001).</span></span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Echocardiography demonstrated milder cardiac involvement in hATTR-CM, with higher GLS (–16 ± 1.4 vs –12 ± 0.8%; p=0.007), thinner interventricular septum (15 ± 0.4 vs 17 ± 0.4 mm; p=0.002), smaller indexed left atrial volume (39 ± 1 vs 50 ± 2 mL/m²; p=0.002) and lower sPAP (28 ± 2 vs 39 ± 3 mmHg; p=0.002).</span></span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Over a mean follow-up of 28 ± 2 months, hATTR-CM patients more frequently remained in NYHA functional class I (31 [61%] vs 10 [20%]), whereas wtATTR-CM patients predominantly remained in NYHA II (27 [55%] vs 14 [27%]; p=0.001). Diuretic use at follow-up was also lower in the hATTR-CM group (19 [37%] vs 31 [63%]; p=0.01). Cardiovascular hospitalizations occurred in 6 patients (6%), and mortality was low overall (4 deaths, 4%), including 2 cardiovascular deaths (no significant difference between groups).</span></span></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">In multivariable analysis, lower sPAP was independently associated with hATTR-CM (OR 0.91 per mmHg; p=0.042). A simplified 0–8 score combining age, sPAP, septal thickness ≤13 mm showed good diagnostic performance. A cutoff ≥3 identified hATTR-CM with 88.5% sensitivity and 75% specificity (PPV 85.2%, NPV 80%), with a Youden index of 0.635 and AUC of 0.86.</span></span></span></span></span><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"> </span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><strong><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Conclusion</span></span></strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Aptos,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">In this cohort, hATTR-CM was diagnosed earlier with less advanced disease, better functional status, lower diuretic requirements, and more favorable echocardiographic parameters. The proposed score is simple to apply and may help estimate the likelihood of hATTR-CM before genetic testing — particularly in older patients where phenotypic overlap is common. Nonetheless, genetic testing remains mandatory for definitive diagnosis in all patients with ATTR-CM.</span></span></span></span></span></p>
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