SPC365

The use of late gadolinium enhancement to improve the yield of genetic testing in dilated cardiomyopathy

Session: Prémio Jovem Investigador (Clínica e Básica)
Speaker: André Paulo Ferreira

Congress: CPC 2024
Topic: P. Other
Theme: 37. Miscellanea
Subtheme: 17.3 Myocardial Disease – Diagnostic Methods
Session Type: Prémios, Registos e Sessões Especiais
FP Number: ---
Authors: André Paulo Ferreira; Miguel Marques Antunes; Isabel Cardoso; José Viegas; Pedro Brás; Inês Almeida; Vera Ferreira; Diana Antunes; Rui Cruz Ferreira; Sílvia Aguiar Rosa

<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong><span style="font-size:11.0pt"><span style="color:black">Background: </span></span></strong><span style="font-size:11.0pt"><span style="color:black">Genetic testing has become an important tool in the work-up of dilated cardiomyopathy (DCM), aiding in family screening and providing information about prognosis and arrhythmic risk. Nonetheless, a significant proportion of patients with DCM present negative genetic test results. The &ldquo;Madrid Score&rdquo; was created to evaluate the likelihood of positive genetic tests and increase their yield in DCM patients.</span></span></span></span></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"><span style="color:black">Purpose: </span></span></strong><span style="font-size:11.0pt"><span style="color:black">To determine if late gadolinium enhancement (LGE) assessment can improve the Madrid Score accuracy and increase the yield of genetic tests for DCM.</span></span></span></span></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"><span style="color:black">Methods: </span></span></strong><span style="font-size:11.0pt"><span style="color:black">A single-centre retrospective study of patients diagnosed with DCM who underwent cardiac magnetic resonance (CMR) and genetic test between January 2017 and October 2023. The CMR imaging included the assessment of LGE. Multivariate logistic regression was performed and the model&rsquo;s change in performance was evaluated when adding LGE. </span></span></span></span></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"><span style="color:black">Results:</span></span></strong><strong> </strong><span style="font-size:11.0pt"><span style="color:black">A total of 90 patients with the diagnosis of DCM underwent CMR and genetic test during the study period. Patient&rsquo;s mean age was 51.0&plusmn;14.6 years, and 57.1% were male. The genetic test was positive (G+) in 42 (46.7%), and negative (G-) in 48 (53.3%) patients. A variant of uncertain significance was present in 31 (34.4%), and these were included in the G- group. Most of the known independent predictors of a G+ given by the Madrid Score were significant in our cohort: Family history of DCM (OR: 4.82; CI: 1.73-11.60; p &lt; 0.001), absence of hypertension (OR: 0.19; CI: 0.06-0.58; p &lt; 0.001), absence of left bundle branch block (OR: 0.22; CI: 0.05-0.98; p = 0.047), and low electrocardiogram voltage in peripheral leads (OR: 3.13; CI: 0.87-11.26; p = 0.081). When analyzing the effect of LGE in the regression model (R<sup>2</sup> = 0.622, p &lt; 0.001), we found that the number of LGE segments (OR: 2.54; CI: 1.10-5.90; p = 0.031), and the presence of LGE in the anterior wall (OR: 3.01; CI: 1.42-12.04; p = 0.041), were associated with a higher rate of positive genetic tests. When comparing both regression models, the incorporation of LGE increased the prediction power of the standard Madrid Score, correctly predicting 82.0% of the tests in our sample, with a probability of a G+ result ranging from 2% when all predictors were absent to 84% when &ge;6 predictors, including LGE, were present.</span></span></span></span></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"><span style="color:black">Conclusion: </span></span></strong><span style="font-size:11.0pt"><span style="color:black">Our study suggests that LGE assessment may enhance the Madrid Score performance and consequently improve genetic testing decisions in DCM, potentially leading to better use of the limited resources in our health care system.</span></span></span></span></p>

Our mission: To reduce the burden of cardiovascular disease
Visit our site

LISBOA
Campo Grande 28 - 13º |
1700-093 Lisboa
(+351) 21 797 06 85
(+351) 21 781 76 30
secretariado@spc.pt

COIMBRA
Rua de Olivença 11 - 7º Piso,
Sala 701, 3000-306 Coimbra
(+351) 239 83 81 01
(+351) 239 83 81 02
(+351) 239 83 81 03
cncdc@spc.pt

PORTO
Rua do Campo Alegre
803, Sala 8, 4150 Porto
(+351) 22 606 07 44
delegacao-norte@spc.pt