title: Cardiac device implantation in Fabry disease: A retrospective monocentric study.
abstract: The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD.Forty-nine patients (20M, 29F) were included. Nine patients (4M, 5F; 18%) had at least one episode of ACA leading to device therapy. Six patients (4M/2F) required a pacemaker (PM) for sinus node dysfunction (n = 4) or atrioventricular disease (n = 2). One female patient required an internal cardioverter-defibrillator (ICD) to prevent sudden cardiac death because of nonsustained ventricular tachycardia (nSVT). One female patient required PM-ICD for sinus node dysfunction and nSVT. One patient underwent CD implantation before the diagnosis of FD. The annual rate of CD implantation was estimated at 1.90 per 100 person years. On univariate analysis at the end of the follow-up period, the factors associated with ACAs requiring CD implantation were as follows: delayed diagnosis of FD, delayed initiation of enzyme replacement therapy, age at the last follow-up visit, and severe multiorgan phenotype (hypertrophic cardiomyopathy, chronic kidney disease, and/or sensorineural hearing loss). On multivariate analysis, age at diagnosis of FD and age at the last follow-up visit were independently associated with an increased risk of ACAs requiring CD (P < 0.05).Considering the high frequency of ACAs requiring CD implantation and the risk of sudden death in patients with FD, regular monitoring is mandatory, especially in patients with a late diagnosis of FD and/or with a severe phenotype. Regular Holter ECGs, therapeutic education of patients, and deliverance of an emergency card including a phenotype summary are crucial in the care of FD patients.Available guidelines for device therapy and the efficacy of enzyme replacement therapy for arrhythmias or conduction abnormalities are discussed.
authors.affiliation: Department of Internal Medicine and Rheumatology, Reference Center for Lysosomal Storage Disorders (CRML, site Avron), Groupe Hospitalier Diaconesses Croix-Saint-Simon Inserm UMRS 974, Université Pierre & Marie Curie Department of Cardiology, Institut Mutualiste Montsouris Department of Clinical Research, Fondation Ophtalmologique Rothschild, Paris Department of Internal Medicine, Centre Hospitalier Jacques Coeur, Bourges Department of Internal Medicine, Hôpital Saint-Antoine, AP-HP, Université Pierre & Marie Curie, Paris Department of Internal Medicine, Centre Hospitalier de Valence, Valence Department of Nephrology, Hôpital Necker, AP-HP, Université René Descartes, Paris Referral Center For Cardiac Hereditary Diseases, Hôpital Pitié-Salpêtrière, AP-HP, Université Versailles-Saint-Quentin, Saint-Quentin-en-Yvelines, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Sené
authors.forename: Olivier
authors.initials: O
authors.lastname: Lidove
authors.forename: Joel
authors.initials: J
authors.lastname: Sebbah
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Darondel
authors.forename: Hervé
authors.initials: H
authors.lastname: Picard
authors.forename: Laurent
authors.initials: L
authors.lastname: Aaron
authors.forename: Olivier
authors.initials: O
authors.lastname: Fain
authors.forename: Thierry
authors.initials: T
authors.lastname: Zenone
authors.forename: Dominique
authors.initials: D
authors.lastname: Joly
authors.forename: Philippe
authors.initials: P
authors.lastname: Charron
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Ziza
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000453:epidemiology* / Q000628:therapy*; D002648:Child; D017147:Defibrillators, Implantable; D000795:Fabry Disease / Q000453:epidemiology*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D010138:Pacemaker, Artificial; D012189:Retrospective Studies; D012307:Risk Factors; D055815:Young Adult