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The Influence of Genotype on the Phenotype and Prognosis of Patients with Hypertrophic Cardiomyopathy:
Session:
SESSÃO DE COMUNICAÇÕES ORAIS 16 – AVANÇOS NO DIAGNÓSTICO E TRATAMENTO DAS MIOCARDIOPATIAS
Speaker:
Inês Macedo Conde
Congress:
CPC 2025
Topic:
B. Imaging
Theme:
03. Imaging
Subtheme:
03.3 Cardiac Magnetic Resonance
Session Type:
Comunicações Orais
FP Number:
---
Authors:
Inês Macedo Conde; Mónica Dias; Sofia Fernandes; Carla Ferreira; Filipe Vilela; Bárbara Rocha; João Faria; Catarina Vieira; Vitor Hugo Pereira
Abstract
<p>Introduction: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous condition characterized by diverse clinical manifestations, ranging from asymptomatic cases to severe heart failure and sudden cardiac death. Advances in cardiac imaging and genetic testing have enhanced our understanding of the disease, revealing complex interplays between genotype and phenotype. However, the precise impact of specific genetic variants on clinical and imaging characteristics, as well as long-term outcomes, remains incompletely understood.</p> <p> </p> <p>Objectives: To evaluate the influence of genotype on clinical and imaging phenotypes, and on a 2-year prognosis in HCM patients.</p> <p> </p> <p>Methods: Observational, retrospective, single-center study, including 117 patients diagnosed with HCM through cardiac MRI between 2018 and 2024. Genetic test results (negative, variant of unknown significance, or positive and affected genes) were correlated with clinical and MRI data. For prognosis analysis, patients diagnosed between 2023 and 2024 were excluded, and comparisons were made between different genotype groups regarding the occurrence of MACE, cardiac hospitalizations, death, and non-sustained ventricular tachycardia (NSVT) in Holter monitoring after 1 year.</p> <p> </p> <p>Results: 117 patients (67,5% male, mean age 62,9 ± 1,2 years) were included in our sample. Patients with positive genetic results had more severe symptoms, greater left ventricular (LV) wall thickness, lower LV ejection fraction, more fibrosis, and a higher likelihood of MACE and hospitalizations. Between the positive and VUS groups, there were no differences in the prevalence of NYHA class III or the presence of LGE, as well as in the likelihood of cardiac hospitalizations. Patients with VUS were more symptomatic and had more fibrosis compared to patients with a negative genetic test. Thin filament mutations were associated with worse imaging phenotypes. Specifically, patients with TPM1 mutations were more likely to develop NSVT.</p> <p> </p> <p>Conclusion: Genotype influences the phenotype and prognosis of HCM patients, underscoring the importance of understanding the genetic basis of this disease.</p>
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