caa a22 4500 465754066 CHVBK 20180323111842.0 cr unu---uuuuu 170327e19900901xx s 000 0 eng 10.1007/BF01606034 doi (NATIONALLICENCE)springer-10.1007/BF01606034 Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease [Elektronische Daten] Report on a case simulating hypertrophic non-obstructive cardiomyopathy [M. Elleder, V. Bradová, F. Smíd, M. BudĚšínský, K. Harzer, B. Kustermann-Kuhn, J. Ledvinová, BĚlohlávek,, V. Král, V. Dorazilová] Summary: Fabry's disease was diagnosed in an adult patient as a lipid storage-induced non-obstructive hypertrophic cardiomyopathy. Stable angina pectoris started 15 years before death, was followed by slowly progressive heart failure and repeated pulmonary thromboembolism with death at 63 years. Autopsy disclosed enormous cardiomegaly (1100 g), cardiac storage of ceramide trihexoside (CTH) of the same intensity as in classical cases of generalized Fabry's disease (11 mg lipid/g wet weight) restricted to cardiocytes. Other tissues (liver, kidney, brain, pancreas, pulmonary artery, coronary arteries) were free of storage. Using proton magnetic resonance analysis on formaldehyde-fixed tissue the stored CTH was identified as globotriaosylceramide. It was enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells. Alpha — galactosidase activities in peripheral leucocytes of all four of the patient's daughters were in the heterozygous range. The diagnostic difficulties in this monosymptomatic novel variant of Fabry's disease are stressed. Springer-Verlag, 1990 Fabry's disease nationallicence Cardiomyopathy nationallicence Elleder M. 1st Institute of Pathology, School of Medicine, Studnickova 2, Prague 2, Czechoslovakia aut Bradová V. 1st Institute of Pathology, School of Medicine, Studnickova 2, Prague 2, Czechoslovakia aut Smíd F. 1st Institute of Pathology, School of Medicine, Studnickova 2, Prague 2, Czechoslovakia aut BudĚšínský M. Institute of Organic Chemistry and Biochemistry, Czechoslovak Academy of Sciences, Prague aut Harzer K. Laboratory for Neurochemistry, Institute for Brain Research, University of Tubingen, Germany aut Kustermann-Kuhn B. Laboratory for Neurochemistry, Institute for Brain Research, University of Tubingen, Germany aut Ledvinová J. Laboratory for Proteosynthesis, School of Medicine, Czechoslovakia aut BĚlohlávek, 2nd Internal Clinic, School of Medicine, Czechoslovakia aut Král V. Laboratory of Physiological Regulations, Czechoslovak Academy of Sciences, Prague aut Dorazilová V. 1st Institute of Pathology, School of Medicine, Studnickova 2, Prague 2, Czechoslovakia aut Virchows Archiv A Springer-Verlag 417/5(1990-09-01), 449-455 0174-7398 417:5<449 1990 417 428 https://doi.org/10.1007/BF01606034 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01606034 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Elleder M. 1st Institute of Pathology, School of Medicine, Studnickova 2, Prague 2, Czechoslovakia aut NATIONALLICENCE 700 1- Bradová V. 1st Institute of Pathology, School of Medicine, Studnickova 2, Prague 2, Czechoslovakia aut NATIONALLICENCE 700 1- Smíd F. 1st Institute of Pathology, School of Medicine, Studnickova 2, Prague 2, Czechoslovakia aut NATIONALLICENCE 700 1- BudĚšínský M. Institute of Organic Chemistry and Biochemistry, Czechoslovak Academy of Sciences, Prague aut NATIONALLICENCE 700 1- Harzer K. Laboratory for Neurochemistry, Institute for Brain Research, University of Tubingen, Germany aut NATIONALLICENCE 700 1- Kustermann-Kuhn B. Laboratory for Neurochemistry, Institute for Brain Research, University of Tubingen, Germany aut NATIONALLICENCE 700 1- Ledvinová J. Laboratory for Proteosynthesis, School of Medicine, Czechoslovakia aut NATIONALLICENCE 700 1- BĚlohlávek 2nd Internal Clinic, School of Medicine, Czechoslovakia aut NATIONALLICENCE 700 1- Král V. Laboratory of Physiological Regulations, Czechoslovak Academy of Sciences, Prague aut NATIONALLICENCE 700 1- Dorazilová V. 1st Institute of Pathology, School of Medicine, Studnickova 2, Prague 2, Czechoslovakia aut NATIONALLICENCE 773 0- Virchows Archiv A Springer-Verlag 417/5(1990-09-01), 449-455 0174-7398 417:5<449 1990 417 428 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer