Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication.
Neuromuscul Disord
; 20(8): 512-6, 2010 Aug.
Article
em En
| MEDLINE
| ID: mdl-20580235
ABSTRACT
Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity. Here we report on a novel autosomal dominant mutation in LMNA in two direct relatives presenting with different clinical phenotypes, characterized by severe life-threatening limb-girdle muscle involvement and cardiac dysfunction treated with heart transplantation in the proband, and by ventricular tachyarrhythmias with preserved cardiac and skeletal muscle function in her young son. To our knowledge, this is the first report of a duplication in the LMNA gene. The two phenotypes described could reflect different clinical stages of the same disease. We hypothesize that early recognition and initiation of therapeutic manoeuvres in the younger patient may retard the rate of progression of the cardiomyopathy.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Transplante de Coração
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Lamina Tipo A
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Distrofia Muscular do Cíngulo dos Membros
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Coração
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Cardiopatias
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article