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GAZZETTA MEDICA ITALIANA ARCHIVIO PER LE SCIENZE MEDICHE

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Gazzetta Medica Italiana Archivio per le Scienze Mediche 2010 December;169(6):333-6

Copyright © 2011 EDIZIONI MINERVA MEDICA

language: English

Long Q-T syndrome and epilepsy in Kearns-Sayre syndrome

Berio A. 1, Oliaro E. 2, Piazzi A. 1

1 Department of Pediatrics, University of Genoa, Genoa, Italy 2 Department of Cardiovascular and Thoracic Diseases, University of Turin, Turin, Italy


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The authors report on a case of Kearns-Sayre syndrome (external ophthalmoplegia, retinitis pigmentosa, ataxia starting before the age of 20 years), with hypothyroidism, epilepsy and long Q-T syndrome with syncopes, evolving to ventricular fibrillation and torsades de pointes. DC shock was positive. The relevance of hypothyroidism in the development of cardiac dysrhythmias associated with KSS is stressed. However, the authors also underline that a potassium channel heterozygosy may be at the basis of this case of KSS with long Q-T syndrome and epilepsy.

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