Specific Cardiomyopathy Caused by Multisystemic Lipid Storage in Jordan’s Anomaly
2002; Lippincott Williams & Wilkins; Volume: 106; Issue: 2 Linguagem: Inglês
10.1161/01.cir.0000018080.37316.d6
ISSN1524-4539
AutoresYuichi Oshima, Hisao Hirota, Hiroyuki Nagai, Masahiro Izumi, Yoshikazu Nakaoka, Tomoaki Osugi, Yasushi Fujio, Hitone Tateyama, Masanori Kikui, Keiko Yamauchi‐Takihara, Ichiro Kawase,
Tópico(s)Endoplasmic Reticulum Stress and Disease
ResumoHomeCirculationVol. 106, No. 2Specific Cardiomyopathy Caused by Multisystemic Lipid Storage in Jordan's Anomaly Free AccessReview ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessReview ArticlePDF/EPUBSpecific Cardiomyopathy Caused by Multisystemic Lipid Storage in Jordan's Anomaly Yuichi Oshima, Hisao Hirota, Hiroyuki Nagai, Masahiro Izumi, Yoshikazu Nakaoka, Tomoaki Osugi, Yasushi Fujio, Hitone Tateyama, Masanori Kikui, Keiko Yamauchi-Takihara and Ichiro Kawase Yuichi OshimaYuichi Oshima 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. , Hisao HirotaHisao Hirota 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. , Hiroyuki NagaiHiroyuki Nagai 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. , Masahiro IzumiMasahiro Izumi 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. , Yoshikazu NakaokaYoshikazu Nakaoka 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. , Tomoaki OsugiTomoaki Osugi 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. , Yasushi FujioYasushi Fujio 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. , Hitone TateyamaHitone Tateyama 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. , Masanori KikuiMasanori Kikui 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. , Keiko Yamauchi-TakiharaKeiko Yamauchi-Takihara 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. and Ichiro KawaseIchiro Kawase 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. Originally published9 Jul 2002https://doi.org/10.1161/01.CIR.0000018080.37316.D6Circulation. 2002;106:280–281A 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. Download figureDownload PowerPointFigure 1. Peripheral blood smear. May-Grunwald-Giemsa stain; original magnification ×600. 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 that the lipid droplets were not membrane bound and had accumulated in large conglomerates between the myofibrils (Figure 2). The mitochondria exhibited normal structure. Download figureDownload PowerPointFigure 2. Ultrastructurally, the lipid droplets were not membrane bound and had accumulated in large conglomerates between the myofibrils. The mitochondria exhibited normal fine structure. Longitudinal section, direct magnification ×3300. Arrow indicates lipid droplet.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.Circulation encourages readers to submit cardiovascular images to the Circulation Editorial Office, St Luke's Episcopal Hospital/Texas Heart Institute, 6720 Bertner Ave, MC1-267, Houston, TX 77030.FootnotesCorrespondence 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 [email protected] Previous Back to top Next FiguresReferencesRelatedDetailsCited By Samukawa M, Nakamura N, Hirano M, Morikawa M, Sakata H, Nishino I, Izumi R, Suzuki N, Kuroda H, Shiga K, Saigoh K, Aoki M and Kusunoki S (2020) Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review, European Neurology, 10.1159/000508346, 83:3, (317-322), . Li M, Hirano K, Ikeda Y, Higashi M, Hashimoto C, Zhang B, Kozawa J, Sugimura K, Miyauchi H, Suzuki A, Hara Y, Takagi A, Ikeda Y, Kobayashi K, Futsukaichi Y, Zaima N, Yamaguchi S, Shrestha R, Nakamura H, Kawaguchi K, Sai E, Hui S, Nakano Y, Sawamura A, Inaba T, Sakata Y, Yasui Y, Nagasawa Y, Kinugawa S, Shimada K, Yamada S, Hao H, Nakatani D, Ide T, Amano T, Naito H, Nagasaka H and Kobayashi K (2019) Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder, Orphanet Journal of Rare Diseases, 10.1186/s13023-019-1087-4, 14:1, Online publication date: 1-Dec-2019. Kaneko K, Kuroda H, Izumi R, Tateyama M, Kato M, Sugimura K, Sakata Y, Ikeda Y, Hirano K and Aoki M (2014) A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review, Neuromuscular Disorders, 10.1016/j.nmd.2014.04.001, 24:7, (634-641), Online publication date: 1-Jul-2014. Hirano K, Tanaka T, Ikeda Y, Yamaguchi S, Zaima N, Kobayashi K, Suzuki A, Sakata Y, Sakata Y, Kobayashi K, Toda T, Fukushima N, Ishibashi-Ueda H, Tavian D, Nagasaka H, Hui S, Chiba H, Sawa Y and Hori M (2014) Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy, Biochemical and Biophysical Research Communications, 10.1016/j.bbrc.2013.12.003, 443:2, (574-579), Online publication date: 1-Jan-2014. Bain B (2011) Pathology of the marrow Blood and Bone Marrow Pathology, 10.1016/B978-0-7020-3147-2.00005-5, (79-102), . Hirano K (2009) A Novel Clinical Entity: Triglyceride Deposit Cardiomyovasculopathy Implications and Perspectives from ''Obesity of the Heart'', Journal of Atherosclerosis and Thrombosis, 10.5551/jat.1669, 16:5, (702-705), . July 9, 2002Vol 106, Issue 2 Advertisement Article InformationMetrics https://doi.org/10.1161/01.CIR.0000018080.37316.D6PMID: 12105171 Originally publishedJuly 9, 2002 PDF download Advertisement
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