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(Circulation. 2002;106:280.)
© 2002 American Heart Association, Inc.

Images in Cardiovascular Medicine

Specific Cardiomyopathy Caused by Multisystemic Lipid Storage in Jordan’s Anomaly

Yuichi Oshima, MD; Hisao Hirota, MD; Hiroyuki Nagai, MD; Masahiro Izumi, MD; Yoshikazu Nakaoka, MD; Tomoaki Osugi, MD; Yasushi Fujio, MD; Hitone Tateyama, MD; Masanori Kikui, MD; Keiko Yamauchi-Takihara, MD; Ichiro Kawase, MD

From the Department of Molecular Medicine (Y.O., H.N., M.I., Y.N., T.O., Y.F., K.Y.-T., I.K.), Osaka University Graduate School of Medicine; Internal Medicine (H.T.), Tominaga Hospital; and Department of Pathology (M.K.), Osaka Prefectural Habikino Hospital, Osaka, Japan.

Correspondence to Hisao Hirota, MD, Department of Molecular Medicine, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita City, Osaka 565-0871 Japan. E-mail hirota@imed3.med.osaka-u.ac.jp

An extract of the first 250 words of the full text is provided, because this article has no abstract.

A 28-year-old Japanese man was admitted in 1996 with persistently high levels of serum creatine kinase (CK), glutamic oxaloacetic transaminase (GOT), and glutamic pyruvic transaminase (GPT). Physical examination revealed no skin disorder, but showed neurosensory hearing loss and early fatigability. The CK level was 1298 U/L (normal <90 U/L), the GOT level 73 U/L (normal <30 U/L), and the GPT level 79 U/L (normal <30 U/L) on admission. The patient’s serum carnitine level was 1.57 mg/dL (normal 1.22 to 1.86 mg/dL). Typical findings of Jordan’s anomaly were noted on his peripheral blood smear (Figure 1) and several vacuoles were seen in the leukocytes. Sections of a muscle biopsy revealed striking vacuolation, predominantly of the type-1 fibers. The oil-red O preparation disclosed abnormal lipid storage myopathy that was most visible in type-1 fibers and less conspicuous in type-2 fibers. The glycogen content of the muscle fibers was not increased. The patient was diagnosed with systemic lipid storage with Jordan’s anomaly.

View larger version (114K): [in this window] [in a new window]   Figure 1. Peripheral blood smear. May-Grunwald-Giemsa stain; original magnification x600. Many vacuoles are seen in the cytoplasm of granulocytes (Jordan’s anomaly).

In 2001, he began complaining of mild exertional dyspnea. Dilated cardiomyopathy was diagnosed by echocardiography and cardiac catheterization. Left ventriculography showed left ventricular (LV) dilatation with an end-diastolic volume (EDV) of 248 mL, diffuse hypokinesis of the LV wall, and decreased LV ejection fraction (EF) at 45%. In the biopsied LV myocardium specimen, vacuoles were seen in the cytoplasm of the myocardial cells. Electron microscopic examination revealed . . . [Full Text of this Article]