α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease

• Published in: Circulation. Cardiovascular genetics Vol. 10; no. 5; p. e001691
• Main Authors: Oder, Daniel, Liu, Dan, Hu, Kai, Üçeyler, Nurcan, Salinger, Tim, Müntze, Jonas, Lorenz, Kristina, Kandolf, Reinhard, Gröne, Hermann-Josef, Sommer, Claudia, Ertl, Georg, Wanner, Christoph, Nordbeck, Peter
• Format: Journal Article
• Language: English
• Published: United States American Heart Association, Inc 01.10.2017
• Subjects: Adolescent; Adult; Aged; alpha-Galactosidase - genetics; alpha-Galactosidase - metabolism; Amino Acid Substitution; Cardiomyopathy; Cardiomyopathy, Hypertrophic, Familial - enzymology; Cardiomyopathy, Hypertrophic, Familial - genetics; Cardiomyopathy, Hypertrophic, Familial - pathology; Cardiovascular diseases; Coronary artery disease; Creatinine; Defibrillators; Fabry Disease - enzymology; Fabry Disease - genetics; Fabry Disease - pathology; Fabry's disease; Female; Fibrosis; Genotype; Genotype & phenotype; Genotypes; Geriatrics; Globotriaosylceramide; Glomerular filtration rate; Heart diseases; Humans; Hypertrophy; Kidneys; Magnetic resonance imaging; Male; Middle Aged; Mimicry; Mutation; Mutation, Missense; Proteinuria; Septum; Ventricle; Fabry disease; hereditary cardiomyopathies; hypertrophic cardiomyopathy; α-galactosidase A; sudden cardiac death

Hypertrophic cardiomyopathy is the most common type of cardiomyopathy, but many patients lack sarcomeric/myofilament mutations. We studied whether cardio-specific α-galactosidase A gene variants are misinterpreted as hypertrophic cardiomyopathy because of the lack of extracardiac organ involvement....