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Genetic Mutations and Testing Profiles Landscape in Dilated Cardiomyopathy Patients: A Diagnostic Impact Analysis
Session:
SESSÃO DE POSTERS 18 - MIOCARDIOPATIA DILATADA
Speaker:
João Fernandes Pedro
Congress:
CPC 2025
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
17. Myocardial Disease
Subtheme:
17.3 Myocardial Disease – Diagnostic Methods
Session Type:
Cartazes
FP Number:
---
Authors:
João Fernandes Pedro; Ana Abrantes; Catarina Gregório; Fátima Salazar; Ana Francês; Rafael Santos; Joana Rigueira; Doroteia Silva; Nuno Lousada; Fausto J. Pinto; Dulce Brito; João R. Agostinho
Abstract
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Arial,sans-serif"><strong>Introduction</strong>: Dilated cardiomyopathy (DCM) often has a genetic etiology. The use of genetic testing in this setting seems to be growing but is still limited. The Madrid Score has been proposed to predict the likelihood of a positive genetic test, though its accuracy is not well established. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Arial,sans-serif"><strong>Purpose</strong>: This study aims to evaluate the results of genetic testing in dilated cardiomyopathy patients and the predictive value of the Madrid Score and to identify factors influencing testing decision.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Arial,sans-serif"><strong>Methods</strong>: A prospective cohort study of incident DCM patients was conducted at a single tertiary center over 4 years. Data on patient characteristics, genetic testing usage, results and the reasons for not performing the test were collected. The Madrid Score was calculated for each patient, and its performance was evaluated using receiver operating characteristic (ROC) curve analysis.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Arial,sans-serif"><strong>Results</strong>: 91 patients were included, with a mean age of 61±15 years and a mean left ventricle ejection fraction of 25±8%, 70.3%, and 47.2% were in NYHA class II and 24.7%, in class III. More than half of the patients (50,6%) had an implantable defibrillator, mostly for primary prevention (84.1%). A family history of DCM was present in 15.6% of patients and genetic testing was performed in 58.9% of patients.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Arial,sans-serif">The main reasons for not performing genetic testing were advanced age/comorbidities (32.4%), presumed alcoholic cardiomyopathy (29.7%) and tachycardia-induced cardiomyopathy (8.1%).</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Arial,sans-serif">Of the patients who underwent genetic testing, 52.8% had a positive result. Identified mutations included TTN (4), DSP (4), FLNC (3), LMNA (2), SCN5A (1), DES (1), RYR2 (1), SGCB (1), DSG2 (1), and BAG3 (1). A second mutation was found in 12.5% of those with a positive result.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Arial,sans-serif">When applied to the patients that were tested, the Madrid Score predicted a mean 33.02±22.42% likelihood of a positive genetic test, which was inferior to the observed rate (52.8%), indicating that it significantly underestimates the positivity of a test by a mean difference of 19.78% (95%CI 12.41-27.15; p<0,001). ROC analysis showed an AUC of 0.651 (95%CI: 0.537-0.765), reflecting a moderate to poor performance – Figure 1.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Arial,sans-serif"><strong>Conclusion</strong>: In this cohort the positivity of genetic testing was higher than predicted by the Madrid Score. These results suggest that the Madrid Score seems to underestimate the true probability of a positive result and that the threshold to perform genetic testing in the absence of a known etiology for DCM should be low. </span></span></p>
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