Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 17 of 17 for “"ARVC"”.
-
A candidate gene analysis of arrhythmogenic right ventricular cardiomyopathy (ARVC)
… arrhythmogenic right ventricular cardiomyopathy (ARVC) is one. ARVC is familial in 30 to 50% of cases and it is inherited in an autosomal dominant or an autosomal recessive manner. Twelve chromosomal loci have been linked to ARVC and six genes have been identified. In 2004 Asano and colleagues …
-
The utility of the 1994 versus the revised 2010 Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Task Force diagnostic criteria for identifying mutation-positive probands with ARVC
… Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterised by structural and functional abnormalities of the right ventricle with or without left ventricular involvement. In 1994, Task Force criteria (TFC) were proposed for the diagnosis of ARVC and were …
-
Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes …
-
Cardiovascular magnetic resonance and right ventricular angiography in assessment of right ventricular volumes, function and wall motion abnormalities in arrhythmogenic right ventricular cardiomyopathy: a comparative study
… Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterised by structural changes to mostly the right ventricle (RV) that predisposes to ventricular arrhythmias heart failure and sudden cardiac death. ARVC is diagnosed using the 2010 Task Force Criteria …
-
Correlation of signal-averaged electrocardiogram and late gadolinium enhancement cardiovascular magnetic resonance in the detection of myocardial fibrosis in arrhythmogenic right ventricular cardiomyopathy and other myocardial disorders
… arrhythmogenic right ventricular cardiomyopathy (ARVC) and other cardiomyopathies is crucial as it forms the substrate for ventricular tachycardia (VT) and fibrillation (VT). Signal-averaged electrocardiography (SAECG) abnormalities are frequent in ARVC and in other cardiomyopathy-related …
-
Right Ventricular Structure and Function in Elite Athletes in Relation to Pre-Participation Screening
… arrhythmogenic right ventricular cardiomyopathy (ARVC) disease. Athlete pre-participation screening is focused on detecting pathological conditions like ARVC. Current issues include: indices that differentiated ARVC patients and healthy people; the impact of different levels of dynamic training …
-
Noninvasive Multi-Modality Studies of Cardiac Electrophysiology, Mechanics, and Anatomical Substrate in Healthy Adults, Arrhythmogenic Cardiomyopathy, and Heart Failure
… arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC carries a high risk of sudden cardiac death, and the hallmark feature of ARVC is the progressive replacement of healthy myocardium with fibrous and fatty tissue. By combining ECGI and LGE in ARVC patients we found that there are signs of …
-
Preliminary genealogical evidence for the Plakophilin-2 gene, PKP2 c.1162C>T founder mutation in cases with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
… Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive form of inherited heart muscle disease characterized by ventricular arrhythmias and sudden cardiac death. Often the pathogenesis is linked to deleterious mutations in the desmosomal gene plakophilin-2 (PKP2). We extended …
-
Validation of the PARVA c.392A>T variant in a South African family with severe Arrhythmogenic Right Ventricular Cardiomyopathy
… arrhythmogenic right ventricular cardiomyopathy (ARVC). Hypothesis: We hypothesize that PARVA harbors novel genetic mutations that cause ARVC and other forms of cardiomyopathy. Aim: To screen the PARVA gene for mutations in a large panel of probands with ARVC and other cardiomyopathies and to …
-
Molekulare Bindungsstudien herzmuskelspezifischer Protein-Varianten mittels Rasterkraftspektroskopie (AFM)
… right ventricular cardiomypathies*, kurz: *ARVC*) stellen schwere Erkrankungen des menschlichen Herzmuskels dar. ARVC sind pathologisch charakterisiert durch den fortschreitenden Verlust von Herzmuskelzellen, die durch Fett- und Bindegewebezellen ersetzt werden. Insbesondere der rechte …
-
Analysis of genetic variations associated with arrhythmogenic right ventricular cardiomyopathy
… arrhythmogenic right ventricular cardiomyopathy (ARVC). Many genes are implicated in ARVC pathogenesis, but many remain to be identified. We investigated a South African family (ACM2) with autosomal dominant ARVC, for whom the genetic cause of disease was unknown. Extensive genetic analysis was …
-
An immunohistochemical assessment of endomyocardial biopsy specimens from the South African arrhythmogenic right ventricular cardiomyopathy registry
… right ventricular cardiomyopathy / dysplasia (ARVC/D) is a genetic disease causing fibro-fatty replacement of the right ventricular myocardium, resulting in cardiac arrhythmias and sudden death. Part of the diagnostic work up for these patients includes a biopsy of the endocardium which has …
-
Molecular genetics of arrhythmogenic right ventricular and dilated cardiomyopathy in South Africans
… arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM) in desmosomal protein genes (i.e., plakophilin 2, desmocollin 2, desmoglein 2, and plakoglobin), (2) establish the presence of a founder effect in families with a recurrent mutation in the plakophilin 2 (PKP2) …
-
Analysis of desmoplakin in arrythmogenic right ventricular cardiomyopathy
… Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare muscle disease characterised by fibrofatty replacement of the right ventricular myocardium, leading to electrical instability and eventual heart failure. Dilated cardiomyopathy (DCM) is a disease characterised by a reduction in …
-
The Rationale, Design and Implementation of the African Cardiomyopathy and Myocarditis Registry
… (RCM; n=4) and arrhythmogenic right ventricular (ARVC; n=4) cardiomyopathies. Cardiomyopathy occurred predominantly in mixed race (46%) and black (41%) Africans, and more frequently in females (54%). Mean age of presentation was 36.8 ±12.5 years. CMR performed in incident cases (67/99, 68%) proved …
-
Electrophysiologic Characterization of the Arrhythmogenic Substrate in Reentrant Atrial and Ventricular Arrhythmias Insights from the Clinical and Experimental Electrophysiology Laboratories
… arrhythmogenic right ventricular cardiomyopathy (ARVC). The clinical impact and relevance of these studies are discussed based on conventional electroanatomic mapping technologies to define abnormal physiological substrates. Chapter 3 also addresses important considerations regarding percutaneous …
-
Nano-indentation and Nano-scale imaging using atomic force microscopy: from single cell to single molecule
… right ventricular cardiomyopathy type V (ARVC-5) is a distinct form of ARVC, but information about the molecular mechanisms of evolution of these diseases are still limited. Understanding how the Ser358Leu mutation affect the mechanical properties of the nucleus and as a whole in a …