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Clinical description and follow-up of adult hypertrophic cardiomyopathy patients
Session:
Painel 10 - Doença Valvular 6
Speaker:
Luís Oliveira
Congress:
CPC 2020
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
17. Myocardial Disease
Subtheme:
17.2 Myocardial Disease – Epidemiology, Prognosis, Outcome
Session Type:
Posters
FP Number:
---
Authors:
Luís Resendes De Oliveira; Maria Inês Barradas; Cátia Serena; António Xavier Fontes; Carla Almeida; Raquel Dourado; Emília Santos; Nuno Pelicano; António Miguel Pacheco; Anabela Tavares; Fernando Melo; Carina Machado; Dinis Martins
Abstract
<p><strong>Background: </strong>Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, with a notable heterogeneity regarding clinical presentation, instituted therapies and prognosis.</p> <p><strong>Purpose: </strong>This study aimed to describe an adult patient population with the diagnosis of HCM, based on clinical and outcome data.</p> <p><strong>Methods: </strong>Retrospective study of consecutive adult patients diagnosed with HCM between 2008 and 2019 (year of initial diagnosis). Demographical, clinical, imaging, electrocardiographic and outcome data were collected based on the patient follow-up.</p> <p><strong>Results: </strong>A total of 58 patients were included in this study, with a median follow-up of 2.6 years [interquartile range (IQR) 1.4-5.8 years]. The median age at diagnosis was 57.0 years (IQR 42.8-65.2 years) and 60.3% (n=35) of the patients were male. HCM was reported as familial in 50% (n=29) of the cases and a genetic test was ordered in 51.7% (n=30). A pathogenic or likely pathogenic variant was found in 65.4% of the patients tested (n=17), mainly in the <em>MYH7</em> gene. The most frequent reported symptom was fatigue (56.9%, n=33), followed by chest pain (29.3%, n=17); 13.8% (n=8) were reported as being asymptomatic. Patients often presented with atrial fibrillation (62.1%, n=36), arterial hypertension (60.3%, n=35) and dyslipidemia (53.4%, n=31). In what regards HCM phenotypic variant, the most common was septal non-obstructive (53.4%, n=31); obstructive variant was present in only 27.6% of the patients (n=16) of whom 18.8% (n=3) were offered septal reduction therapy. Regarding electrocardiographic data, T wave inversion was the most frequent observed alteration (58.6%, n=34). Only 27.6% showed electrocardiographic signs of left ventricle hypertrophy (n=16). A total of nine patients (15.9%) had an estimated five-year risk of sudden cardiac death > 6%, nonetheless a cardioverter-defibrillator was implanted in 14 patients (24.1%). During follow-up, a total of three patients died (all-cause mortality of 1.4%/year).</p> <p><strong>Conclusions: </strong>In the present cohort of patients, HCM is characterized by an advanced age of diagnosis, with frequent comorbidities and a high genetic burden with variants in <em>MYH7</em> gene being the most frequent. All-cause mortality in this population was low, with only a few patients having a high estimated five-year risk of sudden cardiac death.</p>
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