title: [Facioscapulohumeral muscle dystrophy and heart disease].
abstract: Cardiac involvement is well known in a number of skeletomuscular diseases but not in facio-scapulohumeral muscular dystrophy (FSHD). We report on a 71 year old woman with progressive cardiac insufficiency in FSHD, which was also confirmed by molecular analysis in one of the two daughters affected by the disease. Autopsy of the deceased patient showed the typical changes in skeletal muscles including focal inflammatory infiltrates in the diaphragm and, in addition, cardiac muscular involvement. The histological changes resembled those seen in primary cardiomyopathy despite the normal muscle mass volume. Both clinically and morphologically, the cardiac disease was the cause of death in this patient with FSHD.
authors.affiliation: Selbst. Abt. für Neuropathologie, Institut für Pathologie des Universitätsklinikums Leipzig (AöR), Liebigstr. 26, 04103 Leipzig, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Emmrich
authors.forename: V
authors.initials: V
authors.lastname: Ogunlade
authors.forename: T
authors.initials: T
authors.lastname: Gradistanac
authors.forename: S
authors.initials: S
authors.lastname: Daneschnejad
authors.forename: M C
authors.initials: MC
authors.lastname: Koch
authors.forename: R
authors.initials: R
authors.lastname: Schober
mesh_terms: D000368:Aged; D002303:Cardiac Output, Low / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005799:Genes, Dominant; D006333:Heart Failure / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D010375:Pedigree; D011655:Pulmonary Embolism / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000235:genetics / Q000473:pathology