title: [Cardiologic study of 10 patients with Duchenne muscular dystrophy(DMD): personal experience].
abstract: Duchenne (DMD) and Becker (BMD) muscular dystrophies are an heterogeneous group of diseases characterized by a progressive muscular degeneration. The locus involved is localized on short arm of chromosome X (2.1) and the gene product has been called dystrophin. The total dystrophin deficiency leads to DMD while the reduction of dystrophin expression to BMD. The dystrophin has an elevated molecular weight (427 Kd) with different isoforms expressed in skeletal muscular system, central nervous system and myocardium tissue. The cardiovascular involvement is up to the muscular dystrophy: in the DMD patients it is secondary to the progressive course and it usually seen in wheel-chair patients. We have retrospectively evaluated through electrophysiology (EKG) and Echo (M-mode and 2 dimensional) studies 10 DMD patients to define the heart involvement.
authors.affiliation: U.O. Cardiologia Pediatrica, Azienda Policlinico, Università di Catania, Italia.
authors.forename: R
authors.initials: R
authors.lastname: Falsaperla
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: P
authors.initials: P
authors.lastname: Sciacca
authors.forename: A
authors.initials: A
authors.lastname: Di Giorgio
authors.forename: C L
authors.initials: CL
authors.lastname: Mattia
authors.forename: G
authors.initials: G
authors.lastname: Distefano
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications*; D012189:Retrospective Studies