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Dissertations / Theses on the topic 'ARRHYTHMOGENIC'

Author: Grafiati

Published: 1 April 2023

Last updated: 25 July 2025

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1

BERNARDI, JOYCE. "Arrhythmogenic mechanisms in genetic channelopathies." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2017. http://hdl.handle.net/10281/153192.

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Introduzione: Recentemente, varianti minori di SNP del gene NOS1AP sono stati associati a prolungamento del QT e aumentata incidenza di morte improvvisa in pazienti LQT1. Il gene NOS1AP codifica per la proteina CAPON, che localizza NOS1 in prossimità del reticolo sarcoplasmico (SR). L' attività di NOS1 è importante per la modulazione mediate da NO di ICaL, dei canali RyR2 e di SERCA, interferendo così con la regolazione dell’handling del Ca2+ e la stabilità del SR. Perciò abbiamo ipotizzato che gli SNPs di NOS1AP possano alterare la localizzazione/funzione di NOS1 diminuendo la stabilità de

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2

Egdell, Robin Michael. "Arrhythmogenic phenomena in isolated cardiac myocytes." Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322380.

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3

Åström, Aneq Meriam. "Arrhythmogenic right ventricular cardiomyopathy : Is it right?" Doctoral thesis, Linköpings universitet, Klinisk fysiologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-70403.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease, where sudden cardiac death in young seemingly healthy persons may be the first symptom. There is a need for more sensitive and accurate diagnostic methods to detect signs of disease, at an early stage and in relatives of affected individuals. The aim of this thesis is the evaluation of new non-invasive modalities in assessment of right ventricular (RV) volume and function with focus on patients with ARVC. Clinical and non-invasive follow-up of fifteen patients with ARVC during a mean period of 8 years permitt

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4

Scridon, Alina. "Atrial fibrillation : insights concerning the arrhythmogenic substrate." Phd thesis, Université Claude Bernard - Lyon I, 2012. http://tel.archives-ouvertes.fr/tel-00933537.

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Atrial fibrillation is the most prevalent form of cardiac arrhythmia. Studies in animal modelshave provided important insights into arrhythmia mechanisms. However, to date, we do not dispose ofanimal models of spontaneous atrial arrhythmia.Thus, we aimed to develop a model of spontaneous atrial arrhythmia in rats and to assesspathophysiological mechanisms of these arrhythmias by using a multidisciplinary approach. We alsoaimed to assess the presence and the extent of inflammation and endothelial dysfunction, incriminatedin atrial fibrillation-related complications such as stroke, in atrial fib

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5

King, James Harmsworth. "Arrhythmogenic mechanisms in RYR2-P2328S murine hearts." Thesis, University of Cambridge, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648837.

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6

Celeghin, Rudy. "Genomics in Arrhythmogenic Cardiomyopathy: exploring the complexity." Doctoral thesis, Università degli studi di Padova, 2019. http://hdl.handle.net/11577/3421844.

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Background Arrhythmogenic cardiomyopathy (AC) is a rare heart muscle disease characterized by fibrofatty myocardial replacement, prominent impairment of ventricular systolic function and arrhythmias. AC phenotypic spectrum was revealed wider than previously thought thanks to genotype–phenotype correlation. Combining multiple sources of clinical information, such as genetic, electrocardiographic, arrhythmic, morphofunctional, and histopathologic findings resulted the best approach to untangle the complexity of this disease. Aim The aim of our study was to assess AC genetic heterogeneity, app

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7

Cason, Marco. "Application of omic technologies in Arrhythmogenic Cardiomyopathy." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3427282.

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Background. Arrhythmogenic cardiomyopathy (AC) is an inherited myocardial disease characterized by fibro-fatty replacement of the myocardium and life-threatening arrhythmias. This genetically and phenotypically heterogeneous condition, caused mainly by mutations in desmosomal genes (JUP, DSP, PKP2, DSG2 and DSC2), exhibits reduced penetrance making challenging the diagnosis and the identification of a molecular mechanism underlying disease pathogenesis. Aims. (1) To identify one or more altered molecular pathways in AC carriers of desmosomal mutations; (2) to evaluate the diagnostic role of J

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8

Lazzarini, Elisabetta. "Diagnostic Implications of Arrhythmogenic Cardiomyopathy Genetic Testing." Doctoral thesis, Università degli studi di Padova, 2015. http://hdl.handle.net/11577/3424161.

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Background & Aims: Arrhythmogenic Cardiomyopathy (AC) is a rare inherited heart muscle disease associated with mutations in genes encoding mainly components of the cardiac desmosome. We performed a comprehensive study of genetic variants in a cohort of AC subjects and the assessment of Next Generation Sequencing (NGS) strategies for molecular diagnosis of AC. Methods: Ninety-nine unrelated index cases, of which 26 sudden cardiac death cases, underwent genetic screening for 5 desmosomal genes by denaturing high performance liquid chromatography and direct sequencing, whereas 46 probands were a

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9

Spier, Alan W. "The electrocardiographic evaluation of arrhythmogenic cardiomyopathy in boxers /." The Ohio State University, 2002. http://rave.ohiolink.edu/etdc/view?acc_num=osu1486462702466123.

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10

Bueno, Marinas Maria. "MicroRNA profiling in Arrhythmogenic Cardiomyopathy and prognostic markers." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3427265.

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Background: Arrhythmogenic cardiomyopathy (AC) is a clinically and genetically heterogeneous myocardial disease, characterised by a progressive myocardial dystrophy with fibro-fatty replacement, and represents one of the major causes of sudden cardiac death in the young and athletes. Although half of AC patients harbour private desmosomal gene mutations, their low and age-dependent penetrance suggests the involvement of other regulatory molecules. MicroRNAs (miRNAs) are a group of endogenous short noncoding RNAs that regulate gene expression by sequence-specific recognition of their target tra

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11

ElMaghawry, Mohamed. "Advances in Electrocardiographic Features in Arrhythmogenic Right Ventricular Cardiomyopathy." Doctoral thesis, Università degli studi di Padova, 2015. http://hdl.handle.net/11577/3423899.

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Introduction Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic heart muscle disease characterized by electrical instability leading to ventricular arrhythmias and sudden cardiac death. The hallmark pathological lesion of ARVC is the transmural loss of the myocardium of the right ventricular (RV) free wall with replacement by fibro-fatty tissue. Three-dimensional electroanatomic voltage mapping (EVM) by CARTO system (Biosense-Webster, Diamond Bar, California) allows identification and characterization of low-voltage regions, i.e. "electroanatomical scars" (EAS), which in pati

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12

Norman, Mark. "Investigation of the familial nature of arrhythmogenic right ventricular cardiomyopathy." Thesis, University of London, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.511949.

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13

Blanckenberg, Janine. "Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa." Doctoral thesis, University of Cape Town, 2011. http://hdl.handle.net/11427/10130.

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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 have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the ARVC-6 locus which is highly sugges

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14

Fish, Maryam. "Analysis of genetic variations associated with arrhythmogenic right ventricular cardiomyopathy." Doctoral thesis, University of Cape Town, 2016. http://hdl.handle.net/11427/20350.

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Cardiomyopathy accounts for 20-30% of acute heart failure cases in adult Africans. Several types of cardiomyopathy have been identified; this study focused primarily on the genetic causes of 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 previously performed using genome-wide linkage analysis, but no disease-causing genetic variant was identified. W

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15

Du, Preez Janine. "A candidate gene analysis of arrhythmogenic right ventricular cardiomyopathy (ARVC)." Master's thesis, University of Cape Town, 2006. http://hdl.handle.net/11427/3092.

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Includes bibliographical references (leaves 84-90).<br>Heart failure is a major public health problem throughout the world. In South Africa 17% of mortality is attributed to cardiovascular disease (CVD). Heart failure may be either ischemic or non-ischemic in origin. A significant proportion of non-ischemic heart failur is due to cardiomyopathy. There are currently five types of cardiomyopathy recognised, of which 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. T

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16

Flint, Nigel Stuart. "Arrhythmogenic potential of alpha-adrenoceptor stimulation in the rat heart." Master's thesis, University of Cape Town, 1985. http://hdl.handle.net/11427/26526.

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A recent proposal is that the alpha₁-adrenoceptor may mediate the arrhythmogenic effect of catecholamines during acute myocardial ischaernia. The purpose of this thesis was to explore the role of alpha₁ and alpha₂-adrenoceptor stimulation on vulnerability to ventricular fibrillation in the norrnoxic rat ventricular myocardium and further to evaluate the possible underlying cellular mechanism. The model used was the isolated perfused rat heart (Langendorff technique) in which ventricular fibrillation was electrically induced. The amount of current required to produce ventricular fibrillation wa

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17

MIGLIORE, FEDERICO. "Arrhythmogenic Right Ventricular Cardiomyopathy: Prognostic Value of Electroanatomic Voltage Mapping." Doctoral thesis, Università degli studi di Padova, 2013. http://hdl.handle.net/11577/3426170.

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Background: Endocardial voltage mapping (EVM) identifies low-voltage right ventricular (RV) areas, which may represent the electroanatomic scar substrate of life-threatening tachyarrhythmias. We prospectively assessed the prognostic value of EVM in a consecutive series of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods: We studied 69 consecutive ARVC patients [47 males; median age 35 years(28-45)] who underwent electrophysiological study and both bipolar and unipolar EVM. The extent of confluent bipolar (<1.5mV) and unipolar (<6.0mV) low-voltage electrograms w

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18

Bota, Doroteia Isabel Viegas Filipe. "Arrhythmogenic right ventricular cardiomyopathy in boxer dogs: retrospective study (6 cases)." Bachelor's thesis, Universidade Técnica de Lisboa. Faculdade de Medicina Veterinária, 2009. http://hdl.handle.net/10400.5/2179.

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Dissertação de Mestrado Integrado em Medicina Veterinária<br>Arrhythmogenic right ventricle cardiomyopathy (ARVC) is recognized in Boxers, cats and humans, is characterized clinically by ventricular tachyarrhythmias and histopathologically by fibrofatty replacement, mostly of the right ventricle. Affected dogs may have syncope, exercise intolerance or heart failure associated signs. ARVC is an inherited adult onset disorder that can lead to sudden death which can also be the first and single clinical sign. Ventricular premature complexes (VPC’s) with left bundle branch block morphology o

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19

Campbell, Timothy. "Methods for Arrhythmogenic Substrate Identification and Procedural Improvements for Ventricular Arrhythmias." Thesis, The University of Sydney, 2022. https://hdl.handle.net/2123/29925.

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Ventricular arrhythmias (VA) are a frequent precursor to sudden cardiac death (SCD) in patients with structural heart disease (SHD). Patients with SHD are at risk of recurrent ventricular tachycardia (VT), which generally occurs due to re-entry within and around the presence of an arrhythmogenic scar. Therefore, scarred myocardium forms the necessary substrate for arrhythmogenesis to occur. A scar may occur due to obstructive coronary artery disease, causing ischaemic cardiomyopathy (ICM), or from cardiac injury due to several other causes, including inflammatory, infiltrative, toxin-medi

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20

Vettor, Giulia. "Mir-320a as a potential novel circulating biomarker of Arrhythmogenic Cardiomyopathy." Doctoral thesis, Università degli studi di Padova, 2016. http://hdl.handle.net/11577/3426774.

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Introduction: The diagnosis of Arrhythmogenic Cardiomyopathy (AC) is challenging and often late after disease onset. It relies on a scoring system of major and minor criteria, requiring several clinical, instrumental and genetic tests. Diagnosis confirmation is often obtained by invasive procedures like endomyocardial biopsy and electroanatomical mapping. At present time, no circulating biomarkers are available for the diagnosis of AC. We hypothesized that circulating microRNAs (miRNAs), which have been already demonstrated as circulating biomarkers of many cardiac diseases (e.g. heart fail

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21

Rizzo, Stefania. "Arrhythmogenic cardiomyopathy: electrical instability and intercalated disc abnormalities in transgenic mice." Doctoral thesis, Università degli studi di Padova, 2013. http://hdl.handle.net/11577/3426181.

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Aims: Mutations in genes encoding desmosomal proteins have been implicated in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, the consequences of these mutations in early disease stages are unknown. We investigated whether mutation-induced intercalated disc remodeling impacts on electrophysiological properties before the onset of cell death and replacement fibrosis. Methods and Results: Transgenic mice with cardiac overexpression of mutant Desmoglein2 (Dsg2) Dsg2-N271S (Tg-NS/L) were studied before and after the onset of cell death and replacement fibrosi

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22

Mbele, Mzwandile. "Molecular genetics of arrhythmogenic right ventricular and dilated cardiomyopathy in South Africans." Doctoral thesis, University of Cape Town, 2014. http://hdl.handle.net/11427/18611.

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Introduction: Little is known about the molecular genetics of cardiomyopathy in Africans. Aims: to (I) determine the prevalence of desmosomal gene mutations in 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) gene, (3) investigate whether single nucleotide polymorphisms found in desmosomal genes affect gene expression, and (4) search for new candida

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23

Calore, Martina. "Identification of a novel gene involved in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia." Doctoral thesis, Università degli studi di Padova, 2012. http://hdl.handle.net/11577/3422949.

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic cardiac disease inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. Its main feature is the progressive substitution of the myocardium with fatty or fibro-fatty tissue, involving predominantly the right ventricle. Clinically, ARVC/D is characterized by ventricular arrhythmias, often associated with syncope and sudden cardiac death, especially in the young and athletes. Up to now, several disease genes have been identified, including 5 encoding desmosomal proteins. In this

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Li, Mura Ilena Egle Astrid. "Identification of novel loci and genes involved in Arrhythmogenic Right Ventricular Cardiomyopathy." Doctoral thesis, Università degli studi di Padova, 2012. http://hdl.handle.net/11577/3422950.

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Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease characterized by fibrofatty replacement of myocardial tissue and high incidence of serious ventricular tachyarrhythmias. To date, ten disease-genes have been identified, five of which encoding desmosomal proteins (PKP2, DSP, DSG2, DSC2 and JUP). Aim of the study: The study described in the present thesis aimed at determining the spectrum and prevalence of desmosomal mutations in 80 Italian unrelated index cases. Moreover, the identification of novel disease loci and genes in three ARVC famil

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25

Pietrelli, A. "NEXT-GENERATION SEQUENCING APPROACH FOR IDENTIFICATION OF CANDIDATE GENES IN ARRHYTHMOGENIC DISEASES." Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/231158.

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Recent advances in genome sequencing technologies provided unexpected opportunities to characterize individual genomic landscape and identify mutations relevant for diagnosis and therapy in clinics. Specifically, whole-exome sequencing for complex disease (such as tumor/normal matched sample) and target resequencing for Mendelian disease, using next-generation sequencing (NGS) technologies, are gaining popularity in the human genetics community due to the moderate costs and the huge quantity of information provided by each experiment. However, NGS data analysis still remains the crucial bottle

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Asimaki, Angeliki. "Arrhythmogenic right ventricular cardiomyopathy, a disease of the desmosome : genetic and functional studies." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/1443947/.

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Mutation analysis of the recognized ARVC genes and of further candidate genes was performed on a large cohort of ARVC patients. Several novel mutations were identified and three further desmosomal genes were linked to the disease: plakophilin2, desmocollin2 and desmoglein2. Heart and skin samples from ARVC patients were subjected to microscopic examination and immunohistochemistry to study the effect of the newly-identified mutations on the structure of cell adhesion complexes.;The functional effects of a particular novel mutation were thoroughly examined in vitro. S39_K40insS is the first dom

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27

Henry, Alasdair. "The role of intracellular Ca2+ in the arrhythmogenic activity of pulmonary vein cardiomyocytes." Thesis, University of Strathclyde, 2016. http://digitool.lib.strath.ac.uk:80/R/?func=dbin-jump-full&object_id=28515.

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The pulmonary veins are widely recognised as a source of ectopic electrical activity that can cause atrial fibrillation. While the ectopic activity likely originates in the cardiomyocytes that form an external sleeve around the veins, the underlying mechanisms are unknown. Changes in intracellular Ca2+ signalling have been proposed to play an important role in the arrhythmogenic properties of the pulmonary vein. Therefore, the aim of this thesis was to study factors that might influence Ca2+ signalling in the cardiomyocytes. This involved determining the localisation of Ca2+ handling proteins

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28

STADIOTTI, ILARIA. "OXIDIZED LDL/CD36/PPARΓ CIRCUITRY IS A TRIGGER OF ADIPOGENESIS IN ARRHYTHMOGENIC CARDIOMYOPATHY". Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/803111.

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Razionale e ipotesi. La Cardiomiopatia Aritmogena (ACM) è una patologia cardiaca caratterizzata da sostituzione fibro-adiposa del miocardio ventricolare e aritmie maligne. Nonostante sia geneticamente determinata, soprattutto da mutazioni in geni desmosomiali (ad esempio mutazioni in PKP2), i fenotipi clinici ACM sono altamente variabili e i meccanismi molecolari alla base della variabilità fenotipica non sono del tutto noti. Abbiamo ipotizzato che le lipoproteine a bassa densità ossidate (oxLDL), agendo sul recettore gamma attivato dai proliferatori dei perossisomi (PPARγ), il principale rego

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29

Valois, Maria. "Antiarrhythmic and arrhythmogenic profiles of quinidine and their modulation by class Ib antiarrhythmic drugs." Thesis, McGill University, 1990. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=74559.

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The present study investigates in vitro electrophysiological effects of therapeutic concentrations of quinidine (5-10 $ mu$M) and its combination with the Class Ib agents mexiletine and tocainide in canine Purkinje fibers with the use of standard microelectrode techniques. The frequency- and voltage-dependent depression of V$ sb{ rm max}$, used as an index of peak sodium conductance, by quinidine and the combination of quinidine and tocainide (50 $ mu$M) were assessed with the kinetics of onset of, and recovery form, rate-dependent block, and the curve relating V$ sb{ rm max}$ to membrane pote

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30

Ghais, Nina. "The arrhythmogenic effects of pharmacological and genetic manipulations of CA²⁺ homeostasis in murine hearts." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611624.

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31

Sunni, Nadia S. "A study of repolarisation characteristics in highly arrhythmogenic adult human ventricles using noncontact mapping." Thesis, University of Southampton, 2013. https://eprints.soton.ac.uk/374570/.

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32

De, Bortoli Marzia. "Arrhythmogenic right ventricular cardiomyopathy: mutation screening of candidate genes and in vitro functional studies." Doctoral thesis, Università degli studi di Padova, 2008. http://hdl.handle.net/11577/3425477.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder that presents clinically with ventricular arrhythmias, heart failure, and sudden death. The pathological process consists of progressive loss of ventricular myocardium with fibro-fatty replacement. Right ventricle is mostly involved, but presentation of the disease with predominantly left ventricular involvement has been reported. ARVC is typically inherited as a dominant disease, although recessive variants exist and the involvement of family members often can only be detected by molecular

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33

Stokoe, Kate Sarah. "Arrhythmogenic properties of genetically modified murine hearts modelling clinical abnormalities of the cardiac Na⁺ channel." Thesis, University of Cambridge, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611899.

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34

Sen-Chowdhry, Srijita. "New perspectives on arrhythmogenic right ventricular dysplasia/cardiomyopathy and sudden cardiac death in the young." Thesis, University of Cambridge, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612987.

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35

Marcus, Frank L. "MY APPROACH to the diagnosis and treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)⁎." ELSEVIER SCIENCE LONDON, 2016. http://hdl.handle.net/10150/622381.

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36

Martinez, Moreno Rebecca. "Effect of sodium channel SNVs associated to arrhythmogenic diseases. Modulatory role of the genetic background." Doctoral thesis, Universitat de Girona, 2021. http://hdl.handle.net/10803/672837.

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Ion channel mutations can cause defects on the electrical cellular activity, leading to arrhythmogenic diseases also known as channelopathies. Genetic analysis has been a useful tool to identify these mutations as the cause of different arrhythmogenic diseases. However, not all the members of the same family carrying a mutation present the same phenotype. This is known as incomplete penetrance. The results from this Thesis support that the incomplete penetrance of arrhythmogeic diseases is regulated by specific variants from each patient. Thus, a variant pathogenicity should be evaluated takin

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DE, LUCA ANTONIO. "CORRELATION BETWEEN TISSUE ABNORMALITIES AND MYOCARDIAL DEFORMATION INDICES IN ARRHYTHMOGENIC CARDIOMYOPATHY: A MULTIMODALITY IMAGING STUDY." Doctoral thesis, Università degli Studi di Trieste, 2022. http://hdl.handle.net/11368/3015190.

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AIMS. Speckle Tracking Echocardiography (STE) and Feature Tracking Cardiac Magnetic Resonance imaging (FT-CMR) are advanced imaging techniques which are increasingly used for the quantification of myocardial deformation indices. We aimed to study the diagnostic performance and correlation of biventricular strain parameters provided by STE and FT-CMR and to evaluate their correlation with tissue abnormalities in patients with definite diagnosis of arrhythmogenic cardiomyopathy (AC). METHODS. 41 AC Patients with available echocardiography (ECHO) and CMR study along with 41 healthy subjects who u

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Giardini, Francesco. "Morpho-functional investigation of cardiac remodeling in an arrhythmogenic mouse model by advanced optical methods." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1211015.

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Severe remodeling processes may occur in the heart due to both genetic and non-genetic diseases. Structural remodeling, such as collagen deposition (fibrosis) and cellular misalignment, can affect electrical conduction at different orders of magnitude and, eventually, lead to arrhythmias. In this scenario, arrhythmogenic cardiomyopathy (ACM) is an inherited heart disease that involves ventricular dysfunction, arrhythmias, and localized replacement of contractile fibers with fibrofatty scar tissue. Unfortunately, nowadays, redicting the impact of fine structural alterations on the electrical d

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Poloni, Giulia. "Arrhythmogenic Cardiomyopathy: identification of novel genes encoding for intercalated disc proteins by next-generation sequencing." Doctoral thesis, Università degli studi di Padova, 2016. http://hdl.handle.net/11577/3424315.

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Introduction. Arrhythmogenic cardiomyopathy (ACM) is a predominantly genetically determined disease characterized by fibrofatty replacement which leads to right ventricular failure, arrhythmias, and sudden cardiac death (SCD). ACM is inherited as an autosomal dominant trait with incomplete penetrance. Advances in genetic technology have revealed substantial genetic heterogeneity: at least 15 independent loci and 13 disease genes have now been identified associated with the disease, with the large involvement of the genes encoding for desmosomal and area composita proteins. Since causative muta

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Ebrahim, Hatim Yusufali. "Genetic and functional studies of mutations affecting cell adhesion proteins in arrhythmogenic right ventricular cardiomyopathy (ARVC)." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/1443950/.

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ARVC is a cardiac disease associated with ventricular cardiomyocyte fibro-fatty replacement and sudden death. It presents with incomplete penetrance and variable clinical expression. Desmoplakin (DP) and plakoglobin (PG) gene mutations were previously identified. This study aimed: to identify desmosomal (DS) gene mutations in an ARVC cohort by DNA sequencing study the gene transmission and disease expression in affected families and determine functional implications of three identified mutations (A733fsX740PKP-2, S140FPKP-2 and Q273fsX288DP) using wild-type and mutant cDNA plasmid cloning and

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Roslan, Rosazra. "Mechanisms of increased arrhythmogenic risk associated with acute regional ischaemia in rabbit : an optical mapping study." Thesis, University of Glasgow, 2014. http://theses.gla.ac.uk/5484/.

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Acute coronary artery occlusion is the most common cause of sudden cardiac death. In some cases an acute myocardial infarction (MI) can immediately lead to lethal arrhythmias, but the factors that determine whether an MI precipitates arrhythmias are uncertain. In this thesis, I compare and contrast the detailed electrophysiology of hearts that develop arrhythmias post MI compared to those that do not using voltage sensitive fluorescent dyes in isolated rabbit hearts. In an attempt to improve the information from voltage mapping studies, initial work involved attempts to use ratiometric imaging

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Morse, Nicole. "An immunohistochemical assessment of endomyocardial biopsy specimens from the South African arrhythmogenic right ventricular cardiomyopathy registry." Master's thesis, University of Cape Town, 2014. http://hdl.handle.net/11427/13236.

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Includes bibliographical references.<br>Arrhythmogenic 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 historically been difficult to interpret and of limited value in the early stages of disease. This study will focus on novel immunohistochemical stains of the cardiac desmosomes. These will be used to try to aid in the early diagnosis of ARVC.

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Yamada, Chinatsu. "The renin-angiotensin system promotes arrhythmogenic substrates and lethal arrhythmias in mice with non-ischemic cardiomyopathy." Kyoto University, 2016. http://hdl.handle.net/2433/215432.

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Marsh, Amanda Marie. "Assessment of Myocardial Collagen Content in a Novel Mouse Model Linked to Arrhythmogenic Right Ventricular Cardiomyopathy." Thesis, The University of Arizona, 2014. http://hdl.handle.net/10150/321798.

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45

Lorenzon, Alessandra. "Genetic analysis in a large cohort of unrelated consecutive patients with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia." Doctoral thesis, Università degli studi di Padova, 2008. http://hdl.handle.net/11577/3425479.

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Introduction - Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited heart muscle disorder that primarily affects the right ventricular myocardium early in the course of disease with later-onset left ventricular involvement. Clinically, it is characterized by ventricular arrhythmias of right ventricular origin, as noted by ventricular tachycardia with a left bundle branch block morphology, commonly associated with syncope or sudden cardiac death in particular in teenagers and in young adults. To date, mutations in 7 genes, including 5 encoding desmosomal proteins,

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James, Paula Rachael. "Insights into the arrhythmogenic substrate of the human heart: an evaluation of dynamic influences on QT dispersion." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.407391.

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Liuba, Ioan. "Focal atrial tachycardia : Insights concerning the arrhythmogenic substrate based on analysis of intracardiac electrograms and inflammatory markers." Doctoral thesis, Linköping : Department of Medical and Health Sciences, Linköping University, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-20461.

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Sikkel, Markus. "Arrhythmogenic sarcoplasmic reticulum calcium leak in isolated ventricular cardiomyocytes : changes in heart failure and mechanisms of pharmacological modulation." Thesis, Imperial College London, 2014. http://hdl.handle.net/10044/1/45430.

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Cardiomyocyte contraction involves sarcolemmal depolarization causing a small influx of Ca2+ which is then amplified via a larger release from the sarcoplasmic reticulum (SR). Under certain conditions SR Ca2+ is released in the absence of depolarization - so called SR Ca2+ leak. This is thought to be a key cause of arrhythmogenesis in heart failure (HF). The aims of this thesis were to assess how SR leak changes in a rat model of HF induced by chronic myocardial infarction (MI) and the mechanism of modulation using INa blockers. Several novel methodologies were developed to do this including t

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Dambrink, Jan Hendrik Everwijn. "Left ventricular dilatation and neurohumoral activation as arrhythmogenic factors in myocardial infarction results from the Captopril And Thrombolysis Study /." [S.l. : [Groningen] : s.n.] ; [University Library Groningen] [Host], 1995. http://irs.ub.rug.nl/ppn/149828195.

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Palandri, Chiara. "DIFFERENT METHODS TO MODEL CARDIAC ARRHYTHMOGENIC DISEASES: FROM TRANSFECTED CELLS TO CARDIOMYOCYTES DERIVED FROM HUMAN INDUCED PLURIPOTENT STEM CELLS." Doctoral thesis, Università di Siena, 2021. http://hdl.handle.net/11365/1143558.

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Cardiomyopathies are a heterogeneous group of diseases of the heart muscle, associated to alterations of cardiac currents and ions handling that cause the impairment of the cardiac function leading to the insurgence of arrhythmias, heart failure and sudden death. In this project, we focus our attention on ion channel diseases. I will use different models, from expression system, to human adult cardiomyocytes isolated from septal samples, until human induced pluripotent stem cells derived cardiomyocytes (hiPSC-CM) to design cardiomyopathies and used it to test the efficacy and safeness of “old”

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