Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
Journal
Genetics in Medicine
Journal Volume
21
Journal Issue
8
Pages
1890-1891
Date Issued
2019
Author(s)
Tsai W.-H.
Chen N.-Q.
SDGs
Other Subjects
adenine; agalsidase alfa; brain natriuretic peptide; guanine; alpha galactosidase; ceramide trihexoside; globotriaosylceramide; adult; aged; cardiomyopathy; cardiovascular magnetic resonance; case report; chest tightness; clinical article; disease severity; dyspnea; echocardiography; electrocardiogram; enzyme replacement; Fabry disease; faintness; fatality; genetic association; genetic screening; genetic variability; heart arrhythmia; heart atrium enlargement; heart ejection fraction; heart left bundle branch block; heart left ventricle hypertrophy; heart muscle biopsy; heart muscle fibrosis; heart ventricle extrasystole; heart ventricle hypertrophy; heterozygote; human; human cell; human tissue; intracardiac thrombosis; Letter; lymphocytic infiltration; male; middle aged; muscle atrophy; paroxysmal atrial fibrillation; treatment response; biopsy; cardiomyopathy; Fabry disease; heart arrhythmia; lysosome; alpha-Galactosidase; Arrhythmias, Cardiac; Biopsy; Cardiomyopathies; Fabry Disease; Humans; Lysosomes; Trihexosylceramides
Publisher
Nature Publishing Group
Type
letter