title: Feasibility of implantable cardioverter defibrillator treatment in five patients with familial Friedreich's ataxia--a case series.
abstract: Friedreich's ataxia (FRA) is an autosomal recessive disease of the central nervous system that is associated with familial cardiomyopathy. Cardiac involvement is seen in more than 90% of the patients and is the most common cause of death in these patients. We present a case series and discuss the indications for implantable cardioverter defibrillator (ICD) implantation in FRA with review of the literature. Five pediatric patients who suffer from FRA (four female and one male, mean age 17.4 years) underwent ICD implantation between 2007 and 2008 in the University Hospital of Goettingen. The diagnosis of FRA was established by standard clinical criteria and proven in each case by genotyping at the frataxin locus. The time from diagnosis to ICD implantation was 10.4±1.73 years (range 8-15 years). All patients received transvenous lead systems. There were no intraoperative and postoperative complications. At the latest follow-up, the neuromuscular symptoms exhibited no further progress and no ICD activations were noticed. Only minor repolarization changes were seen on electrocardiogram. All patients had normal echocardiographic findings and no angina has been reported. Coronary angiographies were normal. It is evident that many FRA patients develop ventricular dysfunction. In the absence of a definitive surgical cure an ICD is generally indicated in young patients with hemodynamically significant sustained ventricular tachyarrhythmias for prevention of sudden cardiac death. Our experience implies the safe use of ICD in children with FRA.
authors.affiliation: Department of Thoracic Cardiovascular Surgery, University of Göttingen, Germany. dr_coskunok@yahoo.de
authors.forename: Kasim Oguz
authors.initials: KO
authors.lastname: Coskun
authors.forename: Aron Frederik
authors.initials: AF
authors.lastname: Popov
authors.forename: Jan Dieter
authors.initials: JD
authors.lastname: Schmitto
authors.forename: Sinan Tolga
authors.initials: ST
authors.lastname: Coskun
authors.forename: Ivo
authors.initials: I
authors.lastname: Brandes
authors.forename: Dieter
authors.initials: D
authors.lastname: Zenker
authors.forename: Ivan
authors.initials: I
authors.lastname: Melnychenko
authors.forename: Friedrich Albert
authors.initials: FA
authors.lastname: Schoendube
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Ruschewski
mesh_terms: D000293:Adolescent; D000328:Adult; D017023:Coronary Angiography; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control*; D017147:Defibrillators, Implantable; D004452:Echocardiography; D004554:Electric Countershock / Q000295:instrumentation*; D004562:Electrocardiography; D005240:Feasibility Studies; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications*; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000209:etiology / Q000517:prevention & control*; D016896:Treatment Outcome; D055815:Young Adult