title: Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study.
abstract: Only three facioscapulohumeral muscular dystrophy (FSHD) patients have been reported to have cardiomyopathy. An asymptomatic 38-year-old man was incidentally found to have electrocardiographic abnormalities. His echocardiogram demonstrated mild dilatation of the left ventricle and poor contractility. Cardiac histopathology indicated hypertrophic cardiomyopathy. Later he developed muscle weakness in the right arm. Scapular winging and asymmetrical facial weakness were evident. Muscle biopsy at the age of 44 years showed myopathic changes consistent with FSHD. His daughter had symptoms of infantile FSHD, which was genetically confirmed. This is the first report of an FSHD patient with biopsy-proven cardiomyopathy.
authors.affiliation: Department of Pediatrics, Kobe City, Medical Center, General Hospital, 6-4 Nakamachi, Minatojima, Chuo-ku, Kobe 650-0046, Japan. m-tsuji@kcgh.gr.jp
authors.forename: Masahiro
authors.initials: M
authors.lastname: Tsuji
authors.forename: Makoto
authors.initials: M
authors.lastname: Kinoshita
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Imai
authors.forename: Michi
authors.initials: M
authors.lastname: Kawamoto
authors.forename: Nobuo
authors.initials: N
authors.lastname: Kohara
mesh_terms: D000293:Adolescent; D000328:Adult; D001132:Arm / Q000473:pathology / Q000503:physiopathology; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D015897:Comorbidity; D018450:Disease Progression; D004452:Echocardiography; D005152:Facial Muscles / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006352:Heart Ventricles / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009206:Myocardium / Q000473:pathology*; D012782:Shoulder / Q000473:pathology / Q000503:physiopathology