Search results for "cardiomyopathy"
showing 10 items of 242 documents
Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry dis…
2008
Fabry disease is an X-chromosomal storage disorder due to loss-of-function mutations of the GLA gene encoding the lysosomal enzyme α-galactosidase A. Accumulating glycosphingolipid deposits disturb the function of various cells, in particular that of myocytes, arterial smooth-muscle cells, and vascular endothelium. Hypertrophic cardiomyopathy, for example measured by left posterior wall thickness (LPWT) of the heart, represents a major component of Fabry disease morbidity in adult patients. Endothelium-derived nitric oxide (eNO), produced by eNO synthase (eNOS), is a key regulator of vessel wall function and cardiovascular homeostasis. We analysed the effect of the polymorphisms c.894G > T …
Dual Diagnostic Role of 123I-MIBG Scintigraphy in Inverted-Takotsubo Pattern Cardiomyopathy
2015
We highlight the dual role of I-MIBG scintigraphy in inverted-Takotsubo pattern cardiomyopathy, the diagnosis of which is sometimes challenging: Firstly, I-MIBG scintigraphy can show myocardial sympathetic dysfunction (low I-MIBG uptake) in the hypokinetic basal segments, sparing the left ventricle apex. It is helpful in the imaging diagnosis of inverted-Takotsubo pattern cardiomyopathy and confirms that acute dysfunction of myocardial sympathetic nerve endings occurs with this cardiomyopathy. Secondly, I-MIBG scintigraphy is an accurate imaging examination to detect and localize pheochromocytoma; it can help in the search for an endogenous cause of this adrenergic stress-related cardiomyop…
Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
2020
Arrhythmogenic right ventricular cardiomyopathy type V (ARVC-5) is the most aggressive heterozygous form of ARVC. It is predominantly caused by a fully penetrant mutation (p.S358L) in the nondesmosomal gene TMEM43-endemic to Newfoundland, Canada. To date, all familial cases reported worldwide share a common ancestral haplotype. It is unknown whether the p.S358L mutation by itself causes ARVC-5 or whether the disease is influenced by genetic or environmental factors. The purpose of this study was to examine the phenotype, clinical course, and the impact of exercise on patients with p.S358L ARVC-5 without the Newfoundland genetic background. We studied 62 affected individuals and 73 noncarrie…
Speckle myocardial imaging modalities for early detection of myocardial impairment in isolated left ventricular non-compaction
2009
Objective To examine the hypothesis that speckle myocardial imaging (SMI) modalities, including longitudinal, radial and circumferential systolic (s) and diastolic (d) myocardial velocity imaging, displacement (D), strain rate (SR) and strain (S), as well as left ventricular (LV) rotation/torsion are sensitive for detecting early myocardial dysfunction in isolated LV non-compaction (iLVNC). Design and results Twenty patients with iLVNC diagnosed by cardiac magnetic resonance (15) or echocardiography (5) were included. Patients were divided into two groups: ejection fraction (EF)>50% (n=10) and EF≤50% (n=10). Standard measures of systolic and diastolic function including pulsed wave tissue D…
Effects of dynamic exercise and metabolic control on left ventricular performance in insulin-dependent diabetes mellitus
1987
In subclinical diabetic cardiomyopathy, previous reports did not positively correlate the altered cardiac performance with metabolic parameters. Fifteen insulin-dependent diabetic subjects, without any clinical or instrumental evidence of heart diseases, were studied. Signs of diabetic microangiopathy were absent. Systolic time intervals, metabolic and hormonal parameters (blood glucose, free fatty acids, blood lactate and plasma norepinephrine) were evaluated at rest and after dynamic exercise during poor (MAGE 6.36 +/- 0.72 mmol/l) and good (MAGE 3.46 +/- 0.66 mmol/l) metabolic control, obtained by means of insulin therapy. Rest values of systolic time intervals were normal during poor an…
Left ventricular Myocardial dysfunction in arrhythmogenic cardiomyopathy with left ventricular involvement: A door to improving diagnosis.
2018
[EN] Background: Diagnostic Task Force Criteria (TFC) for arrhythmogenic cardiomyopathy (AC) exhibit poor performance for left dominant forms. TFC only include right ventricular (RV) dysfunction (akinesia, dyssynchrony, volumes and ejection fraction). Moreover, cardiac magnetic resonance imaging (CMRI) assessment of left ventricular (LV) dyssynchrony has hitherto not been described. Thus, we aimed to comprehensively characterize LVCMRI behavior in AC patients. Methods: Thirty-five AC patients with LV involvement and twenty-three non-affected family members (controls) were enrolled. Feature-tracking analysis was applied to cine CMRI to assess LV ejection fraction (LVEF), LV end-systolic and …
Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.
2007
Aims Anderson–Fabry disease (AFD) is an uncommon X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. The Fabry Outcome Survey is a European database designed to monitor the long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa. The aim of this study was to determine the prevalence and characteristics of cardiac disease in AFD patients. Methods and results Clinical and laboratory data were available in 714 patients from 11 countries (mean age 35 ± 17 years, 369 women, 336 treated). The prevalence of angina was 23 vs. 22%; palpitations and arrhythmias 27 vs. 26%; exertional dyspnoea 23 vs. 23%; and syncope 2 vs. 4%, in wom…
The effect of radiofrequency catheter ablation of frequent premature ventricular complexes and arrhythmia burden on left ventricular function
2016
Background: Frequent premature ventricular complexes (PVC) are related to reversible tachycardia-induced cardiomyopathy. However, the role of arrhythmia burden on the outcome of the catheter ablation has not been fully recognised. Aim: The aim of this study was to assess the effect of catheter ablation and PVC burden in patients with and without structural heart disease (SHD) on left ventricular ejection fraction (LVEF). Methods: Transthoracic echocardiography was done before and six months after radiofrequency catheter ablation in 109 consecutive patients (61 men, age 55 ± 17 years) with frequent PVCs. Sixty-five (59.6%) patients had underlying SHD. Results: The catheter ablation procedure…
Experience in the long term use of new antiarrhythmic drugs.
1985
Meinertz et a1. (1984) investigated the long term efficacy and tolerability of flecainide in patients with ventricular arrhythmias. 15 patients were studied, 8 women and 7 men, aged 19 to 74 (mean 58.7) years, with more than 30 ventricular premature complexes (VPCs) per hour, and ventricular arrhythmias of Lown grade IVA or IVB. 11 had coronary artery disease and 2 had idiopathic dilated cardiomyopathy. Patients were excluded on the basis of sustained ventricular tachycardia (VT) [defined as ~ 3 consecutive beats at a rate of> 100 beats/min]; myocardial infarction within the last 6 months; unstable angina; severe congestive heart failure; or conduction abnormalities. Previously unsuccessful…
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey
2009
Background: Fabry disease is a rare X-linked lysosomal storage disorder characterised by severe multisystemic involvement that leads to major organ failure and premature death in affected men and women. Over the past 7 years, the Fabry Outcome Survey (FOS) has collected data on the natural history of Fabry disease, and the long-term efficacy and safety of enzyme-replacement therapy. This paper provides an update on the first analysis of FOS data. Design: Baseline data on clinical manifestations and causes of death in a cohort of 1453 patients (699 male, 754 female) from 19 countries worldwide were analysed. Causes of death of affected relatives were analysed separately. Results: The most fr…