نتایج جستجو برای: arvd
تعداد نتایج: 232 فیلتر نتایج به سال:
AIMS Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is often associated with desmosomal mutations. Recent studies suggest an interaction between the desmosome and sodium channel protein Nav1.5. We aimed to determine the prevalence and biophysical properties of mutations in SCN5A (the gene encoding Nav1.5) in ARVD/C. METHODS AND RESULTS We performed whole-exome sequencing i...
BACKGROUND Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. METHODS AND RESUL...
Arritmogenic right ventricular dysplasia (ARVD) is characterized by the gradual replacement of myocytes by adipose and fibrous tissue. Described in 1977, is considered a potentially lethal cause of cardiac disease poorly understood. This disorder usually involves the right ventricle and has been associated with arrthymia, heart failure, and sudden death. In this paper, we report a case of a 25-...
Many patients with occlusive atherosclerotic renovascular disease (ARVD) may be managed effectively with medical therapy for several years without endovascular stenting, as demonstrated by randomized, prospective trials including the Cardiovascular Outcomes in Renal Atherosclerotic Lesions (CORAL) trial, the Angioplasty and Stenting for Renal Artery Lesions (ASTRAL) trial and the Stent Placemen...
AIMS Brugada syndrome (BrS) is an inherited channelopathy that can be characterized by mild right ventricular (RV) abnormalities that are not detectable with conventional echocardiography. The aim of this study was to evaluate the presence of RV abnormalities in BrS patients when compared with controls and a group of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/...
OBJECTIVES The aim of this study was to assess the outcome of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients treated with an implantable cardioverter-defibrillator (ICD). BACKGROUND Arrhythmogenic right ventricular dysplasia/cardiomyopathy is associated with tachyarrhythmia and an increased risk of sudden death. METHODS This study included 42 ARVD/C patients wit...
Atherosclerotic renovascular disease (ARVD), also known as atherosclerotic renal artery stenosis is increasingly recognized to be a cause of chronic renal failure. According to a recent administrative data regarding general population of the elderly greater than 65 years of age in the United States, the prevalence and incidence rates of ARVD were estimated 0.5% and 3.7 per each 1000 person-year...
Dysregulated protein degradative pathways are increasingly recognized as mediators of human disease. This mechanism may have particular relevance to desmosomal proteins that play critical structural roles in both tissue architecture and cell-cell communication destabilization/breakdown the proteome is a hallmark genetic-based desmosomal-targeted diseases, such cardiac disease, arrhythmogenic ri...
Arrhythmogenic right ventricular dysplasia-cardiomyopathy (ARVD-C) is a rare heart condition with characteristic thinning and fibroadipose tissue replacement of the myocardium of the right ventricular wall. We have seen 20 autopsy cases with morphologic features fitting the criteria of ARVD-C in our hospital in the past 5 years. The clinical characteristics of these patients were not those desc...
Arrhythmogenic right ventricular dysplasia (ARVD) is an autosomal dominant heart disease. A K64Q mutation was found in ARVD-affected individuals in the HACD1 gene, which encodes an enzyme involved in very long-chain fatty acid (VLCFA) elongation, although any relationship between mutation and pathology remained unclear. Here, we demonstrate that HACD1 (K64Q) exhibits normal enzyme activity, int...
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