1/3. fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male.fabry disease (alpha-galactosidase A deficiency) is an X-linked recessive lysosomal storage disease in which left ventricular hypertrophy (LVH) is common, and if severe, may mimic hypertrophic obstructive cardiomyopathy. Alcohol-induced percutaneous transluminal septal myocardial ablation (PTSMA) has been used as a safe and effective method to alleviate LVH obstruction in patients with hypertrophic obstructive cardiomyopathy (HCM). We describe a case of a classically affected Fabry 53-year-old male with symptomatic HCM (NYHA class III with exertional angina) who was treated with PTSMA. The procedure safely and effectively alleviated symptomatic left ventricular outflow tract obstruction at long-term follow-up, and the patient's NYHA classification was reduced to NYHA class I to II.- - - - - - - - - - ranking = 1keywords = lysosomal storage, storage disease, storage (Clic here for more details about this article) |
2/3. Significance of screening for fabry disease among male dialysis patients.BACKGROUND: fabry disease is an X-linked disorder resulting from a deficiency of the lysosomal enzyme alpha-galactosidase A(alpha-Gal A). renal insufficiency is a very important manifestation and affects the prognosis of patients. Recently, a renal variant type that is characterized by low plasma alpha-Gal A activity and a milder phenotype, but which progresses to end-stage renal failure, has been reported. In this study, we clarified the incidence of this atypical variant of fabry disease in hemodialysis patients. methods: We measured plasma alpha-Gal A activity in 450 male dialysis patients who had never been diagnosed with fabry disease. RESULTS: The mean of the alpha-Gal A activity of the patients was 9.75 /- 3.20 nmol/h/ml, while the controls with classical Fabry (n = 3) were 0.52-1.04 nmol/h/ml. Among the patients, one patient was found to exhibit low alpha-Gal A activity in plasma (3.18 nmol/h/ml) and in leukocytes (0.639 nmol/h/mg). This patient was a 43-year-old Japanese man who had been on regular dialysis since the age of 23. He did not present typical clinical signs of classical Fabry, such as acroparesthesias or hypohidrosis, but did present renal insufficiency and severe left ventricular hypertrophy which had developed only recently, suggesting a variant form of fabry disease. Sequencing of the dna of this patient revealed a deletion of a single amino acid of valine in 10252. CONCLUSIONS: A case of an atypical variant of Fabry among 450 male dialysis patients (0.22%) was found in the survey. This indicates the potential for undiagnosed fabry disease among dialysis patients. The results of this study indicate the significance of screening for fabry disease among male dialysis patients.- - - - - - - - - - ranking = 0.0012832958997388keywords = enzyme (Clic here for more details about this article) |
3/3. Contribution of plasma matrix metalloproteinases to development of left ventricular hypertrophy and diastolic dysfunction in hypertensive subjects.matrix metalloproteinases (MMPs) are involved in the regulation of the extracellular matrix (ECM) of the myocardium and thus the pathogenesis of vascular and cardiac hypertrophy. In this study, we investigated contribution of plasma matrix metalloproteinases to development of left ventricular hypertrophy (LVH) and diastolic dysfunction in hypertensive subjects. Hypertensive patients with (n = 27) and without LVH (n = 23) were included. All participants underwent a complete transthoracic echocardiographic examination, including recordings of the mitral annular early, late, systolic and diastolic velocities by Doppler imaging. plasma concentrations of MMP-3 and MMP-9 were determined by the one-step sandwich enzyme immunoassay method. plasma MMP-3 and MMP-9 concentrations were significantly higher in patients with LVH than those without LVH (2.4 /- 1.2 vs 1.5 /- 0.7 ng/ml, p = 0.006 and 5.2 /- 2.8 vs 3.3 /- 1.7 ng/ml, p = 0.003, respectively). MMP-3 and MMP-9 levels were also correlated with left ventricular posterior wall thickness and Doppler indices of diastolic dysfunction. Our findings have suggested that increased MMP levels may contribute to LVH and left ventricular diastolic dysfunction. Therefore, treatment of hypertension with MMP lowering drugs, such as angiotensin converting enzyme inhibitors and angiotensin receptor blockers, may have favorable effects on LVH and left ventricular diastolic dysfunction.- - - - - - - - - - ranking = 0.0025665917994776keywords = enzyme (Clic here for more details about this article) |