Comas VRL, Landrian DA, Serra RM

Language: Spanish
References: 10
Page: 120-125
PDF size: 135.12 Kb.

ABSTRACT

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.

REFERENCES

1. Restrepo A, Santander D, Flórez A, Lorenzana P, Mora G. Falla cardiaca y flutter auricular como manifestación de distrofia miotónica tipo 1. Rev Colomb Cardiol [revista en Internet]. 2015 [citado 22 Ago 2016];22(5):[aprox. 10p]. Disponible en: http://www.sciencedirect.com/science/article/pii/S0120563315001023

2. Fernández F, Lage JM, Villanueva JA, Madoz P, Maraví E. La distrofia miotónica (Enfermedad de Steinert-Curschman). Rev Med Univ Navarra [revista en Internet]. 1968 [citado 6 May 2016];12:[aprox. 12p]. Disponible en: http://www.unav.edu/publicaciones/revistas/index.php/revista-de-medicina/article/download/6423/5621

3. Grau Junyent JM, Casademont Pou J, Cardellach López F. Enfermedades musculares. En: Rozman C, Cardellach F. Farreras-Rozman. Medicina Interna. 17a. ed. Barcelona: Elsevier España; 2012. p. 1448

4. Barohn RJ. Miopatías. En: Goldman L, Ausiello D, editores. Cecil. Tratado de Medicina Interna. 23a. ed. Barcelona: Elsevier España; 2013. p. 2817-33

5. Kumar V, Abbas AK, Aster JC. Trastornos de los nervios periféricos y músculos. En: Patología Humana. 9na. ed. Barcelona: Elsevier España; 2013. p. 804

6. Amato A, Brown R. Distrofias musculares y otras enfermedades musculares. En: Longo DL, Kasper DL, Jameson L, Fauci AS, Hauser SL, Loscalzo J. Harrison. Principios de Medicina Interna. 18va. ed. México: McGraw Hill Interamericana; 2012. p. 3496-98

7. Ropper AH, Brown RH. The muscular dystrophies. En: Adams and Victor´s Principles of Neurology. 8th. ed. New York: McGraw–Hill; 2005. p. 1213-29

8. Bhakta D, Lowe MR, Groh WJ. Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I. Am Heart J. 2004;147(2):224-7

9. Nigro G, Papa AA, Politano L. The heart and cardiac pacing in Steinert disease. Acta Myol. 2012;31(2):110-6

10. Groh WJ. Arrhythmias in the muscular dystrophies. Heart Rhythm. 2012;9(11):1890-95