Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey

Autor: Stéphane Boulé, Elijah R. Behr, Giulio Conte, Arthur A.M. Wilde, Daniel Scherr, Michael D Spartalis, Estelle Gandjbachkh, Radosław Lenarczyk, Tatjana S. Potpara
Přispěvatelé: Clinical sciences, University of Zurich
Rok vydání: 2020
Předmět:
Proband
medicine.medical_specialty
610 Medicine & health
030204 cardiovascular system & hematology
Catecholaminergic polymorphic ventricular tachycardia
11171 Cardiocentro Ticino
2705 Cardiology and Cardiovascular Medicine
Sudden cardiac death
03 medical and health sciences
2737 Physiology (medical)
0302 clinical medicine
Sudden cardiac arrest
Surveys and Questionnaires
Physiology (medical)
Internal medicine
Genetic heart disease
Inherited arrhythmogenic diseases
Tachycardia
Ventricular/diagnosis
medicine
Humans
Inherited primary arrhythmia syndromes
Death
Sudden
Cardiac/epidemiology
Genetic testing
Brugada syndrome
medicine.diagnostic_test
business.industry
Arrhythmias
Cardiac/diagnosis
Hypertrophic cardiomyopathy
Cardiac arrhythmia
Arrhythmias
Cardiac
medicine.disease
3. Good health
Europe
Death
Sudden
Cardiac
Tachycardia
Ventricular
EHRA survey
medicine.symptom
Cardiomyopathies
Cardiology and Cardiovascular Medicine
business
030217 neurology & neurosurgery
Zdroj: EP Europace. 22:1904-1910
ISSN: 1532-2092
1099-5129
DOI: 10.1093/europace/euaa223
Popis: The spectrum of inherited arrhythmogenic diseases (IADs) includes disorders without overt structural abnormalities (i.e. primary inherited arrhythmia syndromes) and structural heart diseases (i.e. arrhythmogenic ventricular cardiomyopathy, hypertrophic cardiomyopathy). The aim of this European Heart Rhythm Association (EHRA) survey was to evaluate current clinical practice and adherence to 2015 European Society of Cardiology Guidelines regarding the management of patients with IADs. A 24-item centre-based online questionnaire was presented to the EHRA Research Network Centres and the European Cardiac Arrhythmia Genetics Focus Group members. There were 46 responses from 20 different countries. The survey revealed that 37% of centres did not have any dedicated unit focusing on patients with IADs. Provocative drug challenges were widely used to rule-out Brugada syndrome (BrS) (91% of centres), while they were used in a minority of centres during the diagnostic assessment of long-QT syndrome (11%), early repolarization syndrome (12%), or catecholaminergic polymorphic ventricular tachycardia (18%). While all centres advised family clinical screening with electrocardiograms for all first-degree family members of patients with IADs, genetic testing was advised in family members of probands with positive genetic testing by 33% of centres. Sudden cardiac death risk stratification was straightforward and in line with current guidelines for hypertrophic cardiomyopathy, while it was controversial for other diseases (i.e. BrS). Finally, indications for ventricular mapping and ablation procedures in BrS were variable and not in agreement with current guidelines in up to 54% of centres.
Databáze: OpenAIRE
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