title: [A prompt diagnosis of Steinert's dystrophy in emergency unit].
abstract: Atrial fibrillation is frequently observed in Fist Aid. A rare cause is myotonic dystrophy There are two forms: Steinert's dystrophy caused by a defect of a gene myotoninaprotein kinase and Promm secondary to a defect of a Zinc Finger Protein Gene Clinical manifestations are localized in skeletal and face muscles, vitreous body, sexual glands, endocrine system, smooth muscle, central nervous system and myocardium. Sometimes, in mild and unrecognized forms of this rare disease there are arrhythmias as atrial fibrillation. We report the clinical case of a 52 year-old man, with a suspect diagnosis of Steinert's dystrophy, admitted to the emergency room for a persistent atrial fibrillation. The patient begins oral anticoagulation therapy. The patient perform a transesophageal echocardiogram before the electrical cardioversion with reset to sinus rhythm. In conclusion, with improving the screening methods of patients with primary and secondary myopathies, it has been seen an increase of cases in which a cardiac involvement occurred before or after the onset of the neuromuscular disorders. One of the most frequent alterations is represented by atrial fibrillation, responsible for an increased risk of cerebral embolism, with absolute indication for oral anticoagulation therapy. The myopathy more frequently associated with atrial fibrillation, is myotonic dystrophy, although the risk of cerebral embolism in these patients does not appear to be higher than the general population. The present case report is a spur to perform the diagnosis of Steinert disease in cases admitted to an Emergency Room because of arrhytmias, because of the possibility to perform fast and reliable specific genetic tests. A similar praxis confers to these Units an even more diagnostic clinical role.
authors.affiliation: Dipartimento di Emergenza Accettazione, Azienda Policlinico Umberto I, Università Sapienza, Roma, Italia. marianna.suppa@uniroma1.it
authors.forename: M
authors.initials: M
authors.lastname: Suppa
authors.forename: E
authors.initials: E
authors.lastname: Migliozzi
authors.forename: E
authors.initials: E
authors.lastname: Magnanelli
authors.forename: S
authors.initials: S
authors.lastname: Negri
authors.forename: F
authors.initials: F
authors.lastname: Cavicchi
authors.forename: M
authors.initials: M
authors.lastname: Colzi
authors.forename: A
authors.initials: A
authors.lastname: Coppola
mesh_terms: D004630:Emergencies; D004636:Emergency Service, Hospital; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis*