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Curso de Atualização em Medicina Cardiovascular 2019
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A. Basics
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01. History of Cardiology
02. Clinical Skills
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04. Arrhythmias, General
05. Atrial Fibrillation
06. Supraventricular Tachycardia (non-AF)
07. Syncope and Bradycardia
08. Ventricular Arrhythmias and Sudden Cardiac Death (SCD)
09. Device Therapy
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28. Risk Factors and Prevention
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30. Cardiovascular Disease in Special Populations
31. Pharmacology and Pharmacotherapy
32. Cardiovascular Nursing
33. e-Cardiology / Digital Health
34. Public Health and Health Economics
35. Research Methodology
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Registry of Hereditary Arrhythmogenic Diseases: clinical characterization of a population
Session:
Posters 3 - Écran 6 - Arritmologia
Speaker:
Pedro Silvério António
Congress:
CPC 2019
Topic:
C. Arrhythmias and Device Therapy
Theme:
04. Arrhythmias, General
Subtheme:
04.2 Arrhythmias, General – Epidemiology, Prognosis, Outcome
Session Type:
Posters
FP Number:
---
Authors:
Pedro Silvério António; Nuno Cortez Dias; Inês Gonçalves; João Pedro Ribeiro Agostinho; Inês Aguiar Ricardo; Joana Rigueira; Afonso Nunes Ferreira; Rafael Santos; Nelson P. Cunha; Tiago Graça Rodrigues; Luis Alves Carpinteiro; Fausto José Pinto; João Rodrigues De Sousa
Abstract
<p><strong>Introduction</strong>: Hereditary Arrhythmogenic Diseases (HAD) comprise a heterogeneous group of rare, genetically transmitted disorders associated with the occurrence of dysrhythmias and an increased risk of sudden death. The description of these pathologies is recent and has been observed geographic and ethnic variation in its prevalence and genotype-phenotype correlation</p> <p>Therefore, the collection of clinical data of Portuguese patients with these pathologies assumes special relevance</p> <p><strong>Objective</strong>: To evaluate the relative frequencies of different pathologies in a population included in a Portuguese HAD registry.</p> <p><strong>Methods</strong>: Prospective unicentric study of consecutive patients diagnosed with HAD. Patients with hypertrophic cardiomyopathy are excluded from this study because they are included in another national registry. The relative prevalence of each pathology was evaluated and demographic, genetic and clinical characterization of the population was performed, and the need for implantable cardioverter-defibrillator (ICD) and other therapeutic modalities were used. </p> <p><strong>Results</strong>: A total of 105 patients, 84.1% (n = 90) with diagnosis of Brugada Syndrome (BS), 8.4% (n = 9) Long QT Syndrome (LQTS), 2.8% (n = 3) with Primary Ventricular Fibrillation (PVF) and 2.8% (n = 3) with Arrhythmogenic Right Ventricular Dysplasia (ARVD). The patients with BS were more frequently males (73%), with mean age of 47 ± 12 years. In 25.4% of the patients, a mutation in the SCN5A gene was identified. Approximately 70% (n = 60) of the patients were asymptomatic, 8.1% (n = 7) had history of presumably arrhythmic syncope, 5.8% (n = 5) of epilepsy and 4.7% (n = 4) had been resuscitated from cardiorespiratory arrest (CRA). They implanted ICD in 21 patients (24.4%) and one patient underwent epicardial ablation. The patients with SQTL present an age of 48 ± 19 years, being 67% female. They were presented with CRA and implanted ICD 56% patients (n = 5), the rest are asymptomatic. Three of the patients present a known pathogen mutation. The three patients with ARVD are male (46 ± 18 years) and had a diagnosis established in the sequence of dysrhythmic events. All were submitted to implantation of ICD and two of them were submitted to ablation. In 2 patients mutations of indeterminate meaning were identified. The patients with PVF with mean age of 39 ± 10 years, 50% of the male gender. All of them presented with CRA, having implanted ICD. No mutation was identified.</p> <p><strong>Conclusion</strong>: This study reports the characterization of a large population of Portuguese patients with HAD. The most common DAH was BS and 25.4% of these patients presented mutations in the SCN5A gene</p>
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