title: Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency.
abstract: 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.
authors.affiliation: Clinical and Experimental Department of Medicine and Pharmacology, Messina University Hospital, Messina, Italy. cdegregorio@unime.it
authors.forename: C
authors.initials: C
authors.lastname: de Gregorio
authors.forename: G
authors.initials: G
authors.lastname: Morabito
authors.forename: O
authors.initials: O
authors.lastname: Musumeci
authors.forename: R
authors.initials: R
authors.lastname: Donato
authors.forename: A
authors.initials: A
authors.lastname: Toscano
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency*; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000503:physiopathology; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006801:Humans; D017380:Hypertrophy, Right Ventricular / Q000150:complications / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000503:physiopathology; D008875:Middle Aged; D014694:Ventricular Outflow Obstruction / Q000209:etiology*
chemical_list: D000659:AMP Deaminase