MyoAdenylate Deaminase Deficiency (MADD) is a relatively common metabolic disorder of the skeletal muscle. Patients with MADD usually show an impaired bioenergetic production and a clinical spectrum with either exercise-induced muscle pain, fatigue and/or rhabdomyolysis.
Left ventricular hypertrophy as well as other types of cardiac involvement have been reported in patients with primary MADD.
We describe herein a case of a 61-year-old woman with biochemical and genetic evidence of Myo-Adenylate Deaminase deficiency, in whom we found a right ventricular hypertrophic cardiomyopathy leading to severe outflow tract dynamic obstruction.
Key words: Echocardiography, Myo-Adenylate Deaminase deficiency, neuromuscular disorders, right ventricular disease, right ventricular hypertrabeculation, right ventricular hypertrophic cardiomyopathy