Characteristics and prognostic implications of tricuspid regurgitation in patients with arrhythmogenic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2020 at "ESC Heart Failure"
DOI: 10.1002/ehf2.12906
Abstract: Arrhythmogenic cardiomyopathy (AC) is characterized by right ventricular (RV) dilatation and dysfunction and is often seen in combination with tricuspid regurgitation (TR). The aim of this study was to investigate the characteristics and prognostic implications… read more here.
Keywords: tricuspid regurgitation; characteristics prognostic; implications tricuspid; arrhythmogenic cardiomyopathy ... See more keywords
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24436
Abstract: Arrhythmogenic cardiomyopathy with right dominant form (ACR) is a rare heritable cardiac cardiomyopathy disorder associated with sudden cardiac death. Pathogenic variants (PVs) in desmosomal genes have been causally related to ACR in 40% of cases.… read more here.
Keywords: dominant form; diagnosis; arrhythmogenic cardiomyopathy; associated genes ... See more keywords
Clinical profile in arrhythmogenic cardiomyopathy and a recessive plakophilin-2 gene mutation
Sign Up to like & getrecommendations! Published in 2018 at "Indian Heart Journal"
DOI: 10.1016/j.ihj.2017.10.010
Abstract: Objective Arrhythmogenic cardiomyopathy (ACM) is not an uncommon cause of cardiac morbidity in Kashmir valley. This study was designed to document various clinical features and to sequence exons 11 and 12 of plakophilin 2 (PKP2)… read more here.
Keywords: mutation; acm patients; recessive plakophilin; arrhythmogenic cardiomyopathy ... See more keywords
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2019.09.048
Abstract: BACKGROUND Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic cardiomyopathy (ACM) and investigated the disease mechanism at… read more here.
Keywords: phenotype; flnc variants; arrhythmogenic cardiomyopathy; filamin variants ... See more keywords
Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2022.01.008
Abstract: INTRODUCTION The aim of this study was to report clinical and arrhythmic features in a pediatric population affected by arrhythmogenic cardiomyopathy (ACM). Moreover, we assessed the concordance between the 2010 International Task Force criteria (ITF)… read more here.
Keywords: diagnosis; padua criteria; according padua; arrhythmogenic cardiomyopathy ... See more keywords
Spatial transcriptomics unveils ZBTB11 as a regulator of cardiomyocyte degeneration in arrhythmogenic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2022 at "Cardiovascular Research"
DOI: 10.1093/cvr/cvac072
Abstract: Abstract Aims Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disorder that is characterized by progressive loss of myocardium that is replaced by fibro-fatty cells, arrhythmias, and sudden cardiac death. While myocardial degeneration and fibro-fatty replacement… read more here.
Keywords: degeneration; fibro fatty; arrhythmogenic cardiomyopathy; gene expression ... See more keywords
Filmin-c mutations in arrhythmogenic cardiomyopathy: a peculiar association with left dominat variant and high risk of sudden death
Sign Up to like & getrecommendations! Published in 2020 at "European Heart Journal"
DOI: 10.1093/ehjci/ehaa946.2107
Abstract: Arrhythmogenic cardiomyopathy (AC) is characterized by myocyte necrosis and progressive fibro-fatty substitution. Recently, truncated mutations on Filamin C gene have been correlated with AC and a peculiar phenotype characterized by a prominent left ventricular fibrosis… read more here.
Keywords: sudden death; death; high risk; risk sudden ... See more keywords
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2020 at "European heart journal"
DOI: 10.1093/eurheartj/ehaa141
Abstract: Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiomyopathy characterized by frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden cardiac death is elevated in ACM patients and can be the presenting symptom particularly in younger… read more here.
Keywords: role genetics; genetics cardiovascular; genetics; arrhythmogenic cardiomyopathy ... See more keywords
Extracellular vesicles from immortalized cardiosphere-derived cells attenuate arrhythmogenic cardiomyopathy in desmoglein-2 mutant mice.
Sign Up to like & getrecommendations! Published in 2021 at "European heart journal"
DOI: 10.1093/eurheartj/ehab419
Abstract: AIMS Arrhythmogenic cardiomyopathy (ACM) is characterized by progressive loss of cardiomyocytes, and fibrofatty tissue replacement. Extracellular vesicles (EVs) secreted by cardiosphere-derived cells, immortalized, and engineered to express high levels of β-catenin, exert anti-inflammatory, and anti-fibrotic… read more here.
Keywords: extracellular vesicles; cardiosphere derived; dsg2mt mice; mice ... See more keywords
Sex differences in disease progression and arrhythmic risk in patients with arrhythmogenic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2021 at "Europace"
DOI: 10.1093/europace/euab077
Abstract: Abstract Aims We aimed to assess sex-specific phenotypes and disease progression, and their relation to exercise, in arrhythmogenic cardiomyopathy (AC) patients. Methods and results In this longitudinal cohort study, we included consecutive patients with AC… read more here.
Keywords: sex differences; sex; disease progression; arrhythmogenic cardiomyopathy ... See more keywords
Genetic basis of arrhythmogenic cardiomyopathy
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DOI: 10.1097/hco.0000000000000509
Abstract: Purpose of review To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or… read more here.
Keywords: genetic basis; basis arrhythmogenic; acm; arrhythmogenic cardiomyopathy ... See more keywords