Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia

JYH-MING JIMMY JUANGCHIA-TUNG SHUNYIH-SHARNG CHENWUH-LIANG HWUNI-CHUNG LEETsai W.-H.Chen N.-Q.YIN-HSIU CHIEN2019-11-272019-11-2720191098-3600https://www.scopus.com/inward/record.uri?eid=2-s2.0-85060344212&doi=10.1038%2fs41436-019-0436-y&partnerID=40&md5=938904ff940437d5aa70f86f73e3a681https://scholars.lib.ntu.edu.tw/handle/123456789/433930[SDGs]SDG3adenine; 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; TrihexosylceramidesFabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmialetter10.1038/s41436-019-0436-y306620662-s2.0-85060344212