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Prediction of genotype positivity in patients with Hypertrophic Cardiomyopathy: validation of the Mayo score in a large Portuguese HCM cohort
Session:
Sessão de Posters 18 - Miocardiopatia hipertrófica: genética, fenótipo e desfechos
Speaker:
Márcia Presume
Congress:
CPC 2026
Topic:
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Theme:
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Session Type:
Posters Eletrónicos
FP Number:
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Authors:
Samuel Azevedo; Márcia Presume; André Garcia; Rui Gomes; Mariana Ramos; Raquel Montalvão; Margarida Matias; Oana Moldovan; Carlos Aguiar; Francisco Gama; Sérgio Maltês; Bruno Rocha
Abstract
<p style="text-align:justify"> <span style="font-size:14px"><span style="font-family:"Times New Roman",serif"><strong>Introduction: </strong>Hypertrophic cardiomyopathy (HCM) is a primary hereditary myocardial disorder, with an autosomal-dominant inheritance pattern, mainly caused by mutations in sarcomere genes. Genetic testing has a key role in diagnosis, risk stratification, and family cascade screening. The Mayo score has been proposed as an easy-tool to estimate the pre-test probability of a positive HCM genotype. However, it is yet to be determined whether this prediction tool is useful in Portuguese HCM patients.</span></span></p> <p style="text-align:justify"><span style="color:#000000"><span style="font-size:14px"><span style="font-family:"Times New Roman",serif"><strong>Aims: </strong>To evaluate the predictive value of the Mayo score in a Portuguese HCM cohort.</span></span></span></p> <p style="text-align:justify"><span style="color:#000000"><span style="font-size:14px"><span style="font-family:"Times New Roman",serif"><strong>Methods:</strong> Retrospective study of all patients with HCM regularly followed in our center up until November 2025.Genotype positivity was defined as the presence of pathogenic or likely pathogenic (P/LP) variants. We applied thesimplified version of the Mayo Clinic HCM genotype predictor score: age at diagnosis (<45 years), family history of HCM and of sudden cardiac death, known hypertension and maximal left ventricular wall thickness (≥20mm), while excluding reverse-curve morphology (due to inconsistent reporting). The modified score using ECG parameters was also evaluated, incorporating atrial fibrillation, intraventricular conduction disturbance (QRS ≥120ms), a Sokolow–Lyon index ≥3.5 mV, and precordial T-wave inversion. The predictive performance was assessed using logistic regression, ROC curve analysis and genotype-positivity across score categories.</span></span></span></p> <p style="text-align:justify"><span style="color:#000000"><span style="font-size:14px"><span style="font-family:"Times New Roman",serif"><strong>Results: </strong>Overall, 258 patients were included (mean age 55 ± 19 years, 16% family history of HCM; 7% family history of sudden cardiac death; 59% hypertension; median maximal left ventricular wall thickness 17 [14-21] mm). A total of 85(33%) patients were genotype positive. P/LP variants were most frequently identified in MYBPC3 (n=35), followed by MYH7 (n=26). </span></span></span></p> <p style="text-align:justify"><span style="color:#000000"><span style="font-size:14px"><span style="font-family:"Times New Roman",serif">The prevalence of genotype positivity increased progressively with higher scores (central figure). In the simplified (clinical) Mayo score, a score of 2, 3 and 4 was observed in 17, 7 and 3 patients, of whom 13 (76.5%), 7 (100%) and 3 (100%) were genotype-positive, respectively. Similarly, in the modified (clinical-ECG) version, a score of 2, 3 and 4 was documented in 31, 9 and 4 patients, of whom 19 (61.3%), 8 (88.9%) and 4 (100%) were genotype-positive, respectively. The discriminative performance of these two versions of the Mayo score was moderate, having an observed AUC of 0.71 (95% CI 0.64-0.78) and 0.74 (95% CI 0.68-0.81), respectively, with neither outperforming the other (p=0.914).</span></span></span></p> <p style="text-align:justify"><span style="color:#000000"><span style="font-size:14px"><span style="font-family:"Times New Roman",serif"><strong>Conclusions: </strong>The Mayo Clinic HCM genotype predictor score is useful for predicting a positive genetic test result in Portuguese HCM Patients. The stepwise increase in the P/LP prevalence across score categories supports the use of this adapted model as a simple and practical tool to optimize genetic testing strategies in routine HCM care.</span></span></span> </p>
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