Description of a new mutation in a female patient with Fabry disease
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...
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doaj-bd47942d32f443a1a9ea5fc37f7755532020-11-25T02:16:03ZengElsevierRevista Portuguesa de Cardiologia (English Edition)2174-20492011-10-013010789793Description of a new mutation in a female patient with Fabry diseaseEmanuel Correia0Joana Vidinha1Bruno Rodrigues2Luís Santos3Davide Moreira4Jesus Garrido5M. Clara Sá Miranda6Costa Cabral7Oliveira Santos8Serviço de Cardiologia, Centro Hospitalar Tondela Viseu, Portugal; Corresponding author.Serviço de Nefrologia, Centro Hospitalar Tondela Viseu, PortugalServiço de Cardiologia, Centro Hospitalar Tondela Viseu, PortugalServiço de Cardiologia, Centro Hospitalar Tondela Viseu, PortugalServiço de Cardiologia, Centro Hospitalar Tondela Viseu, PortugalServiço de Nefrologia, Centro Hospitalar Tondela Viseu, PortugalUNILIPE, Instituto Biologia Molecular e Celular, Porto, PortugalServiço de Cardiologia, Centro Hospitalar Tondela Viseu, PortugalServiço de Cardiologia, Centro Hospitalar Tondela Viseu, PortugalFabry 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. Resumo: A doença de Fabry é causada por acumulação intracelular de glicoesfingolipidos em vários tecidos, secundária a mutações no gene GLA (Xq22).Classicamente descrita como afectando homens hemizigotos sem actividade residual de alfa-galactosidase-A, sabe-se hoje afectar ambos os sexos com manifestações mais tardias e frustres no feminino. Associa-se a sintomas neurológicos, cutâneos (angioqueratomas), renais, cardiovasculares (hipertrofia ventricular esquerda, alterações do ritmo e espessamento valvular), cocleo-vestibulares, e cerebrovasculares.Na ausência de tratamento ocorre dano progressivo de órgãos vitais: doença renal terminal e complicações cardiovasculares e cerebrovasculares potencialmente fatais, implicando redução da qualidade e esperança de vida.Descreve-se o caso de doente do sexo feminino, com antecedentes de acidente vascular cerebral (AVC) isquémico criptogênico com 38 anos e insuficiência renal crónica (IRC) com proteinúria, que se apresenta no serviço de urgência com fibrilhação auricular. O estudo ecocardiográfico revelou hipertrofia concêntrica do ventrículo esquerdo com disfunção diastólica e diminuição do strain longitudinal basal. Englobada num protocolo, de rastreio, foi-lhe diagnosticada doença de Fabry e identificada uma mutação não descrita previamente. Keywords: Fabry disease, Cardiomyopathies, Left ventricular hypertrophy, Speckle tracking, Genetics, Palavras-chave: Doença de Fabry, Miocardiopatias, Hipertrofia ventricular esquerda, 2D Strain, Genéticahttp://www.sciencedirect.com/science/article/pii/S2174204911700277 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Emanuel Correia Joana Vidinha Bruno Rodrigues Luís Santos Davide Moreira Jesus Garrido M. Clara Sá Miranda Costa Cabral Oliveira Santos |
spellingShingle |
Emanuel Correia Joana Vidinha Bruno Rodrigues Luís Santos Davide Moreira Jesus Garrido M. Clara Sá Miranda Costa Cabral Oliveira Santos Description of a new mutation in a female patient with Fabry disease Revista Portuguesa de Cardiologia (English Edition) |
author_facet |
Emanuel Correia Joana Vidinha Bruno Rodrigues Luís Santos Davide Moreira Jesus Garrido M. Clara Sá Miranda Costa Cabral Oliveira Santos |
author_sort |
Emanuel Correia |
title |
Description of a new mutation in a female patient with Fabry disease |
title_short |
Description of a new mutation in a female patient with Fabry disease |
title_full |
Description of a new mutation in a female patient with Fabry disease |
title_fullStr |
Description of a new mutation in a female patient with Fabry disease |
title_full_unstemmed |
Description of a new mutation in a female patient with Fabry disease |
title_sort |
description of a new mutation in a female patient with fabry disease |
publisher |
Elsevier |
series |
Revista Portuguesa de Cardiologia (English Edition) |
issn |
2174-2049 |
publishDate |
2011-10-01 |
description |
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. Resumo: A doença de Fabry é causada por acumulação intracelular de glicoesfingolipidos em vários tecidos, secundária a mutações no gene GLA (Xq22).Classicamente descrita como afectando homens hemizigotos sem actividade residual de alfa-galactosidase-A, sabe-se hoje afectar ambos os sexos com manifestações mais tardias e frustres no feminino. Associa-se a sintomas neurológicos, cutâneos (angioqueratomas), renais, cardiovasculares (hipertrofia ventricular esquerda, alterações do ritmo e espessamento valvular), cocleo-vestibulares, e cerebrovasculares.Na ausência de tratamento ocorre dano progressivo de órgãos vitais: doença renal terminal e complicações cardiovasculares e cerebrovasculares potencialmente fatais, implicando redução da qualidade e esperança de vida.Descreve-se o caso de doente do sexo feminino, com antecedentes de acidente vascular cerebral (AVC) isquémico criptogênico com 38 anos e insuficiência renal crónica (IRC) com proteinúria, que se apresenta no serviço de urgência com fibrilhação auricular. O estudo ecocardiográfico revelou hipertrofia concêntrica do ventrículo esquerdo com disfunção diastólica e diminuição do strain longitudinal basal. Englobada num protocolo, de rastreio, foi-lhe diagnosticada doença de Fabry e identificada uma mutação não descrita previamente. Keywords: Fabry disease, Cardiomyopathies, Left ventricular hypertrophy, Speckle tracking, Genetics, Palavras-chave: Doença de Fabry, Miocardiopatias, Hipertrofia ventricular esquerda, 2D Strain, Genética |
url |
http://www.sciencedirect.com/science/article/pii/S2174204911700277 |
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