CONGRESS ABSTRACT

Duchenne muscular dystrophy (DMD) is a progressive myopathic disorder caused by a recessive mutation in the dystrophin gene on the X chromosome, that result in progressive skeletal muscle weakness as the main clinical manifestation. However, cardiac muscle is also affected. Dilated cardiomyopathy (DCM), arrhythmias, and congestive heart failure (HF) represent the most important life-limiting condition in DMD. Therefore, early diagnosis and management of cardiovascular disease is critical for the survival and/or improved quality of life for these patients. We described the case of a 15 years old male, admitted to emergency department for an episode of transient speech impediment, self-limiting. Brain CT scan was negative for acute events, so this episode was interpreted by the consultant neurologist as transient motor aphasia.  On physical examination he was in a wheelchair, with severe muscular impairment, so functional capacity was difficult to assess, but with no signs of respiratory distress suggestive of acute decompensated heart failure.  ECG showed sinus rhythm, tall R waves and increased R/S amplitude in V1, Q waves in the left precordial leads, right axis deviation.  Echocardiography showed thinner left ventricle (LV) wall, LV dilatation, regional wall motion abnormalities in the posterior basal wall and severe biventricular systolic dysfunction. Moreover, left endoventricular thrombosis was found. The patient was transferred to the Sub-Intensive Cardiology Unit, where he has been hemodynamically stable, without the need for pharmacological therapy with inotropes or vasopressors or parenteral diuretics. Parenteral anticoagulation with enoxaparin was then performed. A few days later additional contrast-echocardiography was carried and no longer showed the previously described thrombotic formation, instead confirming the significant global biventricular systolic dysfunction. For diagnostic investigation, a cardiac MRI was performed which showed LGE in the basal inferior and inferolateral wall, biventricular disfunction, excluding endoventricular thrombosis.  Finally, the patients continued his treatment in a specialistic Center to try emerging potential therapeutic strategies.