Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The variant form of Fabry's disease, called cardiac Fabry's disease, which has left ventricular hypertrophy as its main clinical manifestation is not uncommon. Because there has been no pedigree analysis in families with cardiac Fabry's disease, we performed gene analyses, enzyme assays, and cardiac evaluations in 3 distinct families with cardiac Fabry's disease. Gene analyses were performed in all 18 members of 3 families including 3 male probands. Five hemizygotes and 6 heterozygotes were identified. Plasma alpha-galactosidase A activity was measured in all 18 family members. Echocardiography and electrocardiography were performed in the 5 hemizygotes and in 5 of the 6 heterozygotes. The proband and 3 heterozygotes from a pedigree with a mutation in exon 6 of the alpha-galactosidase A sequence leading to a Met296Ile substitution showed a decrease in alpha-galactosidase A activity. In a separate pedigree, a proband and his hemizygous brother, with a mutation in exon 2 leading to a Glu66Gln substitution, had a decrease in alpha-galactosidase A activity, whereas 3 heterozygotes had normal values. In the third pedigree, a decrease in alpha-galactosidase A activity was observed in 2 hemizygotes who have a mutation in exon 1 leading to an Ala2OPro substitution. Although all 5 hemizygotes exhibited left ventricular hypertrophy on echocardiography, all 5 heterozygotes lacked this finding. Because plasma alpha-galactosidase A activity was normal in some heterozygotes with cardiac Fabry's disease, gene analysis is essential for an accurate diagnosis. Patients with cardiac Fabry's disease thus show an x-linked form of hypertrophic cardiomyopathy.
Am J Cardiol 2001 Jan 01
PMID:Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. 1113 37

The case of a 71-year-old woman who presented with dyspnea and palpitations is presented. Workup yielded a diagnosis of Fabry's disease, and the patient was referred for therapy. Fabry's disease is a disorder of glycosphingolipid metabolism and has forms that are limited to the myocardium. There is evidence that it has been underrecognized as a cause of cardiac hypertrophy. Because screening can be done with a simple blood test and new treatment options appear promising, we recommend consideration of Fabry's disease in the workup of patients with cardiac hypertrophy.
Cardiol Rev
PMID:An unusual cause of dyspnea. 1466 57

In recent years, left ventricular noncompaction (LVNC) has been recognized as a distinct form of cardiomyopathy with its own clinical presentation and natural history. More than 100 cases of LVNC have been described in children. Although LVNC has been described in association with metabolic disorders such as Fabry's disease or genetic disorders such as Roifman's syndrome, this case represents the first report of LVNC in a child with trisomy 13.
Pediatr Cardiol
PMID:Left ventricular noncompaction cardiomyopathy in association with trisomy 13. 1554 19

A 30 year-old male patient with a history of Fabry's disease, was referred to hospital with symptoms of dizziness, hypotension and weakness. Fabry's disease had been diagnosed 2 years before, based on angiokeratoma and hypohidrosis on physical examination and complete lack of alpha-galactosidase A on laboratory examination. The ECG on admission demonstrated sinus bradycardia, with a poor response to atropine administration. Echocardiograms on admission and 2 years before were normal, as well as Holter ambulatory ECG recording. Subsequent electrophysiological study demonstrated mild AV conduction disturbances at a site proximal to His, and the patient was simply advised to be regularly followed up. It can therefore be concluded that even young patients with Fabry's disease and normal echocardiograms might develop cardiac symptoms due to AV conduction abnormalities.
Int J Cardiol 2005 Mar 18
PMID:Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement. 1574 95

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme alpha-galactosidase A. More than 60% of patients with AFD have evidence for cardiac involvement; the prevalence and clinical significance of arrhythmia in AFD are unknown. Seventy-eight consecutive patients (mean age 43.5 +/- 15.0 years, range 13.0 to 83.0; 43 men) with AFD were studied for 1.9 years (range 0.25 to 10). All patients underwent clinical evaluation, 12-lead electrocardiography, and echocardiography. Sixty patients (76.9%) underwent 24-hour ambulatory electrocardiographic monitoring. Persistent atrial fibrillation (AF) was present in 3 of 78 patients (3.9%); 8 (13.3%) had paroxysmal AF, and 5 (8.3%) had nonsustained ventricular tachycardia (VT). Patients with nonsustained VT were all men, with a maximal left ventricular (LV) wall thickness >20 mm. Age (p <0.001), left atrial diameter (p = 0.001), maximal LV wall thickness (p = 0.003), LV mass index (p = 0.009), and angina (p = 0.02) were univariate predictors of AF or paroxysmal AF. Using these predictors in a stepwise logistic regression analysis model, age was the only independent predictor of AF or paroxysmal AF (odds ratio 1.2, 95% confidence interval 1.1 to 1.3, p = 0.001). During follow-up, there was 1 sudden cardiac death, 4 patients received pacemakers for bradyarrhythmia, and 1 received a biventricular pacemaker and an internal cardioverter defibrillator. In conclusion, arrhythmias are common in older patients with AFD. The high incidence of pacemaker implantation and sudden cardiac death suggests that arrhythmia has a significant impact on the natural history of AFD.
Am J Cardiol 2005 Sep 15
PMID:Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. 1616 74

The present study evaluated the evolution of cardiac morphology, function, and late enhancement as a noninvasive marker of myocardial fibrosis, and their inter-relation during enzyme replacement therapy in patients with Fabry's disease using magnetic resonance imaging and color Doppler myocardial imaging. Late enhancement, which was present in up to 50% of patients, was associated with increased left ventricular mass, the failure of a significant regression of hypertrophy during enzyme replacement therapy, and worse segmental myocardial function. Late enhancement may predict the effect of enzyme replacement therapy on left ventricular mass and cardiac function.
Am J Cardiol 2006 May 15
PMID:Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. 1712 72

Gene expression profiling by microarray technologies has been successfully applied to study the transcriptional changes that occur in tissues such as heart, vessels and blood cells in different cardiovascular disorders. Such studies have been performed in human cardiovascular syndromes and in animal models with the aim of unraveling the complex molecular pictures underlying human pathophysiology. As already observed in cancer research, gene expression studies in humans may provide a finer molecular classification of patients with cardiovascular diseases and indicate new markers useful for prognostic and therapeutic strategies. In this paper, we present the findings obtained with microarray platforms to explore transcriptome alterations in cardiovascular diseases. To describe the potential of global expression profiling approach in this field, we have chosen to review the genomic findings obtained in some classic heart diseases with genetic transmission such as hyperthrophic cardiomyopathy and Fabry disease, together with findings obtained in common multifactorial cardiovascular disorders such as heart failure, atherosclerosis and infarction. Wherever feasible, we present the results obtained in patients together with those obtained in the corresponding animal and cellular models.
J Mol Cell Cardiol 2006 Dec
PMID:Differential gene expression profiling in genetic and multifactorial cardiovascular diseases. 1702 Jul 63

Although classic Fabry's disease results in multiple causes of death, the cardiac variant of Fabry's disease affects only the cardiac system and results in initial symmetric left ventricular (LV) hypertrophy and later LV dysfunction, asymmetric basal posterior LV wall thinning, restrictive mitral flow, and functional mitral regurgitation with end-stage chronic heart failure (CHF), leading to death. The purpose of this study was to investigate whether these findings predict prognoses in patients with cardiac Fabry's disease. In 13 consecutive men with cardiac Fabry's disease, LV wall thickness, the ejection fraction, mitral E-wave deceleration time, the LV Tei index, and functional mitral regurgitation were measured by echocardiography. Patients were followed for 5 to 96 months (mean 41 +/- 9). Eight patients developed New York Heart Association class III CHF, and 6 experienced cardiac death. A LV Tei index >0.60 and basal posterior LV wall thinning with a ratio of ventricular septal to posterior wall thickness >1.3 significantly preceded CHF and death (Tei index: 4.4 and 5.1 years; posterior wall thinning: 4.0 and 4.7 years), respectively (p <0.05). In conclusion, an increased LV Tei index and asymmetric basal posterior LV wall thinning are important echocardiographic findings that precede CHF and cardiac death in patients with cardiac Fabry's disease.
Am J Cardiol 2007 Jan 15
PMID:Significance of asymmetric basal posterior wall thinning in patients with cardiac Fabry's disease. 1722 30

Restrictive cardiomyopathy (RCMP) is characterized by restrictive filling and reduced diastolic volume of either or both ventricles with normal or near-normal systolic function and wall thickness. It may occur idiopathically or as a cardiac manifestation of systemic diseases such as scleroderma, amyloidosis, Churg-Strauss syndrome, cystinosis, sarcoidosis, lymphoma, Gaucher's disease, hemochromatosis, Fabry's disease, pseudoxanthoma elasticum, hypereosinophilic syndrome, carcinoid, Noonan's syndrome, reactive arthritis, or Werner's syndrome and various neuromuscular disorders. Whereas in idiopathic RCMP the therapeutic options are only treatment of cardiac congestion, in cases with an underlying disorder, a causal therapy may be available. Patients with RCMP should be investigated as soon as the cardiac diagnosis is established for extracardiac diseases to detect a possibly treatable cause of RCMP before the disease becomes intractable. These investigations include a diligent clinical history and examination, blood tests, and ophthalmologic, otologic, dermatologic, gastroenterologic, nephrologic, hematologic, and neurologic examinations. If extracardiac examinations do not reveal a plausible cause for RCMP, endomyocardial biopsy is indicated.
Clin Cardiol 2007 Aug
PMID:Extracardiac medical and neuromuscular implications in restrictive cardiomyopathy. 1768 Jun 17

In systemic diseases such as amyloidosis, sarcoidosis, Friedreich's ataxia, Fabry's disease and muscular dystrophy the clinician has to judge the presence and the amount of cardiac involvement. In most of these patients conventional echocardiographic parameters are not sensitive enough to detect sub-clinical dysfunction. Tissue Doppler imaging and in addition strain rate imaging has proven to be very sensitive for the assessment of myocardial dysfunction. This review explores the impact of these new techniques to identify and to manage cardiac aspects of the different systemic diseases.
Clin Res Cardiol 2008 Feb
PMID:Use of tissue Doppler imaging to identify and manage systemic diseases. 1771 17


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