Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is presented of Fabry's disease manifesting in an adult (aged 64) as hypertrophic nonobstructive cardiomyopathy caused by massive ceramidtrihexoside storage confined exclusively to the cardiocytes. There was no storage detectable in capillaries or in any other structure of the organs examined (liver, pancreas, brain, aorta, pulmonary artery, coronary arteries, heart valves). The clinical picture was dominated by heart failure slowly progressing during the last fifteen years of the patient's life terminated by pulmonary thromboembolism. There were no clinical signs of ocular, renal or skin affection. Since no unfixed tissues were available for enzyme analysis diagnosis had to be done using formaldehyde fixed tissues. The isolated stored lipid was characterized by TLC and by proton magnetic resonance analysis as globotriaosyl ceramide (Gal alpha 1-4 Gal beta 1-4 Glc beta 1-1' Cer) and was proved to be cleaved by control cell homogenates but left intact by those prepared from Fabry mutant cells (leukocytes, cultured fibroblasts). alpha galactosidase activity in each of his four daughters was in heterozygous range (peripheral leukocytes were used for analysis). The existing variants of cardiological syndromes in Fabry's disease are reviewed together with problems of diagnosis of atypical cases.
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PMID:[Fabry's disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy]. 211 Dec 24

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.
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PMID:Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. 217 54

Enzyme replacement by renal allotransplantation has been suggested as a specific mode of therapy for Fabry's disease. We report a case of Fabry's disease who developed symptoms and signs of heart failure despite successful renal transplantation 14 years ago. Echo- and angiocardiographic features resembled findings in patients with hypertrophic non-obstructive cardiomyopathy. Endomyocardial biopsy specimens demonstrated cardiac manifestation of Fabry's disease.
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PMID:Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation. 393 26

A 58-year-old woman with cardiac enlargement and heart failure was a member of a family with Fabry disease. In this patient, endomyocardial biopsy permitted microscopic examination of the myocardium which revealed cellular abnormalities characteristic of Fabry cardiomyopathy. It is suggested that unfavorable lyonization of the mutant-bearing X chromosome accounted for the expression of this disorder in specific organs of a female patient.
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PMID:Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy. 626 1

Fabry's disease (angiokeratoma corporis diffusum universale) is a disorder of sphingolipid metabolism affecting predominantly male patients. Renal damage is usually the cause of death in the fourth or fifth decade. Renal transplantation represents a new approach to correction of uremia and perhaps even of the basic congenital metabolic anomaly. In this case the patient, a 57-year-old man, developed renal failure at the age of 45 and received a renal allograft at that age. The transplantation was followed by complete remission of uremia and concomitant symptoms, but later complicated by progressive cardiac failure, anginal chest pain and arrythmia. Necropsy findings showed persistent deposition of ceramide in the myocardium and especially in the conduction system. This was documented, for the first time to the author's knowledge, by electron microscopic investigations. Cardiac manifestations of Fabry's disease are discussed in relation to patients with renal transplants.
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PMID:[Fabry's disease. Light and electron microscopic cardiac findings 12 years after successful kidney transplantation]. 629 21

Case reports on three patients with Fabry's disease. Two of them involved necroptic examination, in one case the authors examined bioptic specimens of a 9-years old boy's skin. The material was processed by light microscopy, by electron microscopy, and by chromatography [in one case]. The two fatal cases showed accumulation of glycolipid mainly in cardiac muscle cells, the cause of heart failure. The authors describe the morphology of granules and give a list of their tinction and histochemical properties.
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PMID:[Fabry's disease]. 677 52

A histochemical study was performed on light- and electron-microscopic level in a case of Fabry's disease. The patient underwent kidney transplantation for renal failure and died of heart failure 6 months later. Patient's tissues were studied at the light- and electron-microscopic levels with various embedding and staining techniques for lipids and carbohydrates. Two peroxidase-labeled lectins (from Ricinus communis and from Bandeiraea simplicifolia) known to have affinity for alpha- and beta-D-galactose, were strongly reactive with the storage material on frozen sections. The ultrahistochemical and extraction tests showed that the typical granules had a variable reactivity and morphologic characteristics in different cells, probably reflecting different composition. A small number of typical deposits were also observed in the transplanted kidney. This is the first reported case of recurrence of the storage disease in the allograft. Of interest was also the fact that the patient's blood inhibited normal alpha-galactosidase activity, suggesting a possible inhibitor-related mechanism in the pathogenesis of the recurrence.
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PMID:Light- and electron-microscopic histochemistry of Fabry's disease. 678 1

Fabry's disease (Angiokeratoma corporis diffusum) is a rare X-chromosome linked recessive disorder belonging to the group of sphingolipoidoses. The basic defect involves the gene encoding alpha-galactosidase. Because this enzyme is responsible for decomposition of glycosphingolipids, its deficiency results in their accumulation in endothelial and smooth muscle cells. With time, generalized angiokeratomas, paresthesias, renal and cardiac insufficiency and cerebrovascular complications develop. We report a patient who in addition to the well-described findings also showed unique nail fold capillary changes not described so far. Analysis of serum concentration of alpha-galactosidase identified three female heterozygous carriers in the patient's family.
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PMID:[Angiokeratoma corporis diffusum universale (Fabry disease)]. 933 33

Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme alpha-galactosidase A (alpha-Gal A). The lack of alpha-Gal A causes an intracellular accumulation of glycosphingolipids, mainly globotriaosyceramide (GL3). Affected organs include, among others, the vascular endothelium, heart, brain, and kidneys, leading to end-stage renal disease (ESRD). Since Fabry disease cannot be cured at present, clinical management is symptomatic. Enzyme replacement therapy (ERT) with recombinant alpha-Gal A has been introduced as a new therapeutic option for the treatment of Fabry patients. Short-term (one year) clinical studies have positively correlated ERT with improvement of clinical symptoms and microvascular endothelial cell clearance. Treatment outcome concerning severe organ manifestations such as proteinuria and renal function impairment, left ventricular hypertrophy, and heart failure in the long run has yet to be shown. In our studies we used sensitive and noninvasive techniques such as ultrasound-based strain rate imaging and magnetic resonance imaging (MRI), combined with MR-spectroscopy (MR-S), for the quantification of functional abnormalities at an early stage of the disease and during long-term follow-up. Future issues should determine the appropriate timing to start therapy and how children and heterozygous females should be managed. Given the diagnostic and therapeutic potential today, it is of importance to identify patients at an early stage and to start therapeutic intervention before progression of organ damage is inevitable.
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PMID:Fabry disease: diagnosis and treatment. 1269 40

The authors sought to define the prevalence of Fabry disease and to establish the incidence and its natural history in Italy. The aim of this study was to point out the first clinical signs and symptoms to perform an early diagnosis and hence to start a specific therapeutic treatment. Fabry disease is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. Fabry disease is a severe X-linked disorder presenting with a higher morbidity between the third and the fourth decade of life. Fabry disease may be confused with other diseases or completely misdiagnosed: its frequency is estimated worldwide to be 1:117000. In Italy, 65 patients have been identified by several specialized institutions; age, sex, onset of first clinical signs and symptoms were analyzed and reported. In conclusion, this is the first Italian collaborative study that allows to delineate and point out the clinical signs of Fabry disease to perform a correct and early diagnosis. Enzyme replacement therapy is now available and its early beginning can prevent renal and cardiac failure, improve the quality of life and life expectancy in these patients.
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PMID:[Fabry disease in Italy: first epidemiologic and collaborative study]. 1567 7


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