Resumo

COMAS VALDESPINO, Rafael; LANDRIAN DAVIS, Alain  e  SERRA RUIZ, Melissa. Steinert’s Myotonic Dystrophy. Case Presentation. Medisur [online]. 2017, vol.15, n.1, pp. 120-125. ISSN 1727-897X.

Heart failure is frequently the final consequence of diverse cardiovascular diseases, but in rare cases it does not happen because some other infrequent causes are identified for myocardial damage. It may be the result of some genetic disorders, represented by some myocardiopathies, hemoglobinopathies, mendelian disorders of the extracellular matrix and neuromuscular diseases. The last ones include an infrequent disease, autosomal dominant inheritance, known as myotonic dystrophy type 1 or Steinert’s disease. This disease is characterized by the variability in its presentation, which include cardiac involvement. A case treated at the Emergency and Urgency Service is presented with marked dyspnea, cardiac failure and without identified cardiovascular risk factors. On clinical examination it was observed arrhythmia, muscular dystrophy, baldness and myotonic signs. After analyzing some tests it was concluded with a diagnosis of Steinert’s Myotonia. The interest of this communication is that it is in relation with a rare disease; it may even be useful in the teaching context.

Palavras-chave : Myotonic dystrophy; heart failure; myotonic disorders; arrhythmias, cardiac; neuromuscular diseases.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )