Abnormal sympathetic innervation of the heart in a patient with Emery-Dreifuss muscular dystrophy.
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.
Fujiita
Takashi
T
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa 920-8640, Japan.
Shimizu
Masami
M
Kaku
Bunji
B
Kanaya
Hounin
H
Horita
Yuki
Y
Uno
Yoshihide
Y
Yamazaki
Tsukasa
T
Ohka
Takio
T
Sakata
Kenji
K
Mabuchi
Hiroshi
H
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*
D019275:Radiopharmaceuticals; D019797:3-Iodobenzylguanidine