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Genetic Influences on Prognosis in Hypertrophic Cardiomyopathy: Which Genes to Fear?
Session:
Sessão de Posters 18 - Miocardiopatia hipertrófica: genética, fenótipo e desfechos
Speaker:
Marta Vilela
Congress:
CPC 2026
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
17. Myocardial Disease
Subtheme:
17.2 Myocardial Disease – Epidemiology, Prognosis, Outcome
Session Type:
Posters Eletrónicos
FP Number:
---
Authors:
Marta Vilela; João Cravo; Diogo Ferreira; Daniel Cazeiro; Inês Araújo; João Fernandes Pedro; Catarina Gregório; Beatriz Garcia; Oana Moldovan; Hugo Madeira; Fausto Pinto; Dulce Brito
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Introduction:</strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">Hypertrophic cardiomyopathy (HCM) is a genetic disorder linked to sarcomeric protein mutations. While the spectrum of genetic mutations implicated in HCM has expanded, uncertainties remain regarding the risks and clinical outcomes associated with different mutations.</span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Purpose:</strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">To assess clinical characteristics and outcomes differences among HCM patients (pts) with </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYBPC3</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">, </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7 </em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">and </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>TPM1</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> gene mutations.</span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Methods:</strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">A retrospective analysis of HCM patients (probands and relatives) followed at a tertiary center was performed, focusing on those with </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYBPC3, MYH7 </em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">or </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>TPM1</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> gene mutations classified as pathogenic or likely pathogenic (P/LP) per ClinVar. Clinical, laboratory, ECG, and echocardiographic data were collected. Outcomes were analyzed using a composite of all-cause mortality and cardiovascular (CV) hospitalizations.</span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Results:</strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">A total of 123 HCM patients (pts) were included: 47 (38%) with</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em> MYBPC3</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">, 52 (42%) with </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> and 24 (20%) with </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>TPM1</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> mutations. At diagnosis the mean age was 60.5 ± 2.7 years (</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYBPC3</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">), 40.1 ± 2.6 years (</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">) and 48.3 ± 0.6 years (</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>TPM1</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">). Male distribution was 53%, 48% and 46%, respectively. Baseline characteristics at HCM diagnosis, including NYHA class I (78% vs. 56% vs. 75%, p=0.14), maximum wall thickness (17.9 mm vs. 18.7 mm vs. 17.67 mm, p=0.6), and presence of left ventricular outflow tract obstruction at rest (21% vs. 21% vs. 16%, p=0.7), were similar across groups. </span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">SCD risk scores at baseline were intermediate/high in 25% (</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYBPC3</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">), 23% (</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">) and 4% (</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>TPM1</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">) pts, increasing at follow-up (FUP) to 36%, 32%, and 29%, respectively. Implantable cardioverter-defibrillator use was higher in </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> pts (35% vs. 11% vs. 8%, p<0.001) and only 1 appropriate shock registered. Atrial fibrillation (AF) was more frequent in </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYBPC3</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> and </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> pts compared to </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>TPM1</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> (36% vs. 29% vs. 4%, p=0.002), with high baseline SCD risk score significantly predicting AF development (50% (high SCD risk score) vs. 21% (low risk), p=0.017).</span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">Over a median FUP of 9 years (IQR 3–12), overall mortality was 23%. Kaplan-Meier analysis revealed a trend toward worse outcomes in </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7 </em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">mutations, with lower cumulative survival free from composite events (p=0.06). After age adjustment, composite event analysis showed worse outcomes in </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> and </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>TPM1 </em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">mutations, with significantly higher hazard ratios compared to </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYBPC3</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> (</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">: HR 14; </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>TPM1:</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> HR 10, p=0.03).</span></span></span></p> <p> </p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong>Conclusion:</strong></span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">In this cohort of HCM patients, </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYH7</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> gene mutations were associated with worse clinical outcomes and a higher incidence of atrial fibrillation compared to </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>MYBPC3</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> and </span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><em>TPM1</em></span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"> mutations. However, further studies with larger populations are needed to validate these findings and better understand their clinical implications.</span></span></span></p>
Slides
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