TY - JOUR A1 - Köping, Maria A1 - Shehata-Dieler, Wafaa A1 - Schneider, Dieter A1 - Cebulla, Mario A1 - Oder, Daniel A1 - Müntze, Jonas A1 - Nordbeck, Peter A1 - Wanner, Christoph A1 - Hagen, Rudolf A1 - Schraven, Sebastian P. T1 - Characterization of vertigo and hearing loss in patients with Fabry disease JF - Orphanet Journal of Rare Diseases N2 - Background Fabry Disease (FD) is an X-linked hereditary lysosomal storage disorder which leads to a multisystemic intralysosomal accumulation of globotriaosylceramid (Gb3). Besides prominent renal and cardiac organ involvement, patients commonly complain about vestibulocochlear symptoms like high-frequency hearing loss, tinnitus and vertigo. However, comprehensive data especially on vertigo remain scarce. The aim of this study was to examine the prevalence and characteristics of vertigo and hearing loss in patients with FD, depending on renal and cardiac parameters and get hints about the site and the pattern of the lesions. Methods Single-center study with 57 FD patients. Every patient underwent an oto-rhino-laryngological examination as well as videonystagmography and vestibular evoked myogenic potentials (VEMPs) and audiological measurements using pure tone audiometry and auditory brainstem response audiometry (ABR). Renal function was measured by eGFR, cardiac impairment was graduated by NYHA class. Results More than one out of three patients (35.1%) complained about hearing loss, 54.4% about vertigo and 28.1% about both symptom. In 74% a sensorineural hearing loss of at least 25 dB was found, ABR could exclude any retrocochlear lesion. Caloric testing showed abnormal values in 71.9%, VEMPs were pathological in 68%. A correlation between the side or the shape of hearing loss and pathological vestibular testing could not be revealed. Conclusions Hearing loss and vertigo show a high prevalence in FD. While hearing loss seems due to a cochlear lesion, peripheral vestibular as well as central nervous pathologies cause vertigo. Thus, both the site of lesion and the pathophysiological patterns seem to differ. KW - Fabry disease KW - vertigo KW - VEMP KW - cardiomyopathy KW - chronic kidney disease KW - lysosomal storage disorder Y1 - 2018 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-222818 VL - 13 ER - TY - THES A1 - Hartmann, Tanja T1 - Eine detaillierte elektrokardiographische Analyse bei Patienten mit Morbus Fabry und deren klinische Deutung T1 - A detailed electrocardiographic analysis and clinical implications for patients with Fabry disease N2 - Bei Morbus Fabry handelt es sich um eine X-chromosomal rezessiv vererbbare lysosomale Speichererkrankung. Im Vordergrund der kardialen Beteiligung stehen eine progrediente Herzinsuffizienz, bedingt durch eine linksventrikuläre Hypertrophie mit kardialer Fibrosierung, sowie eine Mitbeteiligung des Reizleitungssystems. Bei 150 Patienten wurden im Zeitraum von 2001-2009 neben einer klinischen Untersuchung ein EKG, eine Echokardiographie, ein Belastungs-EKG und teilweise auch eine Magnetresonanztomographie durchgeführt. Zum Vergleich der Patientenentwicklung wurde jeweils das jüngste Follow-up Ergebnis mit den Baseline-Daten verglichen. Es konnte eine signifikante Korrelation zwischen der QRS-Dauer und der Wandstärke in der Echokardiographie und der Magnetresonanztomographie eindeutig nachgewiesen werden. Eine myokardiale Fibrose ist bei normalen Ruhe-EKG-Parametern nahezu auszuschließen. In der Untersuchung des Langzeit-EKGs fanden sich bei einigen Patienten höhergradige ventrikuläre Rhythmusstörungen, welche als erhöhtes individuelles Risiko und als bedeutender Faktor der Sterblichkeit bei Morbus Fabry zu werten sind. N2 - The X-linked recessive genetic disorder Fabry disease is a lysosomal storage disease. Patients present predominantly cardiac involvement e.g. left ventricular hypertrophy and myocardial fibrosis, as well as repolarization abnormalities. In this study, 150 patients underwent physical examinations, EKG studies, echocardiography exams, stress-tests and cardiac MRI studies between 2001 and 2009. Baseline and follow-up results were compared accordingly. The study demonstrated a significant correlation between QRS-Duration and left ventricular wall thickness assessed by echocardiography and cMRI studies. The results showed that an unremarkable EKG study was associated with low probability of myocardial fibrosis. Data from EKG-Holter-monitor-studies demonstrated clinically relevant ventricular arrhythmias in several patients. This indicates an increased individual risk and may determine mortality associated with Fabry disease. KW - Fabry-Krankheit KW - Elektrokardiogramm KW - Transthorakale Echokardiographie KW - Langzeit-Elektrokardiogramm KW - Belastungselektrokardiogramm KW - Morbus Fabry KW - Enzymersatztherapie KW - Fabry disease KW - electrocardiogram KW - enzyme replacement therapy Y1 - 2018 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-165610 ER -