title: Abnormal sympathetic innervation of the heart in a patient with Emery-Dreifuss muscular dystrophy.
abstract: A 33-year-old man was admitted for general malaise and vomiting. An electrocardiogram showed a complete atrioventricular block and an echocardiogram showed right atrial dilatation and normal wall motion of left ventricle (LV). Gene analysis showed nonsense mutation in the STA gene, which codes for emerin, and Emery-Dreifuss muscular dystrophy was diagnosed. An endomyocardial biopsy of right ventricle showed mild hypertrophy of myocytes. Myocardial scintigraphic studies with Tc-99m methoxyisobutylisonitrile (MIBI) and I-123-betamethyl-p-iodophenylpentadecanoic acid (BMIPP) scintigrams showed no abnormalities. In contrast, I-123 metaiodobenzylguanidine (MIBG) scintigrams showed a diffuse and severe decrease in accumulation of MIBG in the heart. Six months later, his LV wall motion on echocardiograms developed diffuse hypokinesis. These results suggest that the abnormality on I-123 MIBG myocardial scintigrams may predict LV dysfunction in Emery-Dreifuss muscular dystrophy.
authors.affiliation: Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa 920-8640, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Fujiita
authors.forename: Masami
authors.initials: M
authors.lastname: Shimizu
authors.forename: Bunji
authors.initials: B
authors.lastname: Kaku
authors.forename: Hounin
authors.initials: H
authors.lastname: Kanaya
authors.forename: Yuki
authors.initials: Y
authors.lastname: Horita
authors.forename: Yoshihide
authors.initials: Y
authors.lastname: Uno
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Yamazaki
authors.forename: Takio
authors.initials: T
authors.lastname: Ohka
authors.forename: Kenji
authors.initials: K
authors.lastname: Sakata
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mabuchi
mesh_terms: D019797:3-Iodobenzylguanidine; D000328:Adult; D006321:Heart / Q000000981:diagnostic imaging* / Q000294:innervation*; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000000981:diagnostic imaging*; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D013564:Sympathetic Nervous System / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging*
chemical_list: D019275:Radiopharmaceuticals; D019797:3-Iodobenzylguanidine