title: [Description of a new mutation in a female patient with Fabry disease].
abstract: Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22). Classically described as affecting hemizygous males with no residual alpha-galactosidase A activity, it is now known to affect both sexes, with later and less severe manifestations in females. The manifestations of this disease are systemic: neurological, cutaneous (angiokeratomas), renal, cardiovascular (left ventricular hypertrophy, valve thickening or rhythm disturbances), cochlear-vestibular, and cerebrovascular. In the absence of treatment there is progressive damage to vital organs with renal failure, stroke, heart failure or rhythm perturbations, leading to severe impairment of quality of life as well as reduced life expectancy. We describe the case of a female patient with a history of cryptogenic ischemic stroke at the age of 38 years and chronic renal failure with proteinuria, who presented to the emergency room with atrial fibrillation. The echocardiogram revealed concentric left ventricular hypertrophy, diastolic dysfunction and decreased longitudinal strain in the basal septum. In the context of a screening protocol, she was diagnosed with Fabry disease and a previously undescribed mutation was identified.
authors: Serviço de Cardiologia, Centro Hospitalar Tondela Viseu, Portugal. emanuelbaptista@gmail.com
authors: Emanuel
authors: E
authors: Correia
authors: Joana
authors: J
authors: Vidinha
authors: Bruno
authors: B
authors: Rodrigues
authors: Luís
authors: L
authors: Santos
authors: Davide
authors: D
authors: Moreira
authors: Jesus
authors: J
authors: Garrido
authors: M
authors: M
authors: Clara Sá Miranda
authors: Costa
authors: C
authors: Cabral
authors: Oliveira
authors: O
authors: Santos
mesh_terms: D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation