Specific Cardiomyopathy Caused by Multisystemic Lipid Storage in Jordan’s Anomaly
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.
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 that the lipid droplets were not membrane bound and had accumulated in large conglomerates between the myofibrils (Figure 2). The mitochondria exhibited normal structure.
Multisystemic lipid storage with Jordan’s anomaly is a rare type of lipid metabolic disorder. Its hallmarks are multisystemic lipid storage, lipid vacuoles in leukocytes (Jordan’s anomaly), and normal serum carnitine level. Skin disorder (ichthyosis), skeletal muscular myopathy, liver steatosis, and neurosensory hearing loss are its clinical manifestations. However, this disorder sometimes features myocardial involvement.
The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.
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