Results 31 to 40 of about 979 (102)
Diagnostics, 2020 Mono-allelic dominant mutations in the desmoplakin gene (DSP) have been linked to known cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy.
Przemysław Chmielewski +9 more
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Role of miRNA–mRNA Interactome in Pathophysiology of Arrhythmogenic Cardiomyopathy
BiomedicinesArrhythmogenic cardiomyopathy is an inherited entity characterized by irregular cell–cell adhesion, cardiomyocyte death and fibro-fatty replacement of ventricular myocytes, leading to malignant ventricular arrythmias, contractile dysfunction and sudden ...
Fernando Bonet +12 more
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Biventricular Arrhythmogenic Cardiomyopathy Mimicking Cardiac Sarcoidosis
JACC: Case ReportsNoninvasive imaging is crucial for diagnosing and managing arrhythmogenic cardiomyopathy. Despite advanced multimodality imaging tools, challenges persist in differentiating it from other arrhythmogenic diseases (eg, cardiac sarcoidosis).
Mouna Kodali, MD +4 more
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Late presentation of arrhythmogenic right ventricular cardiomyopathy: a case report
Journal of Medical Case Reports, 2009 Introduction Arrhythmogenic right ventricular cardiomyopathy is an inherited myocardial disease affecting predominantly young people and manifests as sustained ventricular tachycardia with left bundle branch block morphology, sudden death or isolated ...
Papaioannou Georgios I +4 more
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Generation of three TTN knock-out human induced pluripotent stem cell lines using CRISPR/Cas9 system
Stem Cell Research, 2022 TTN mutations are the common genetic cause for various types of cardiomyopathies (e.g., dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy) and skeletal myopathies.
Ji-Young Kang +7 more
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JACC: Case ReportsArrhythmogenic cardiomyopathy (ACM) is a genetically heterogeneous inherited cardiomyopathy with an estimated prevalence of 1:5000–10 000 that predisposes patients to life-threatening ventricular arrhythmias (VA) and sudden cardiac death (SCD). ACM diagnostic criteria and risk prediction models, particularly for arrhythmogenic right ventricular ...
Evgenia Zhubrina +5 more
+7 more sources
Cell models of arrhythmogenic cardiomyopathy: advances and opportunities
Disease Models & Mechanisms, 2017 Arrhythmogenic cardiomyopathy is a rare genetic disease that is mostly inherited as an autosomal dominant trait. It is associated predominantly with mutations in desmosomal genes and is characterized by the replacement of the ventricular myocardium with ...
Elena Sommariva +4 more
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Science and practice of arrhythmogenic cardiomyopathy: A paradigm shift [PDF]
Global Cardiology Science & Practice, 2012 The clinical, genetic, and molecular paradigm of arrhythmogenic right ventricular cardiomyopathy (ARVC) has markedly progressed through the last three decades, shifting from the classical ARVC as a progressive condition characterized by fibrofatty ...
Mohamed ElMaghawry +4 more
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Inflammation—A Possible Link between Myocarditis and Arrhythmogenic Cardiomyopathy
DiagnosticsArrhythmogenic cardiomyopathy is a primary genetic disease caused by mutations in the desmosome genes. Ever since the introduction of new imaging techniques, like cardiovascular magnetic resonance, the diagnosis of arrhythmogenic cardiomyopathy has ...
Ioan Radu Lala, Adina Pop-Moldovan
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Left‐dominant arrhythmogenic cardiomyopathy due to desmoplakin mutation: a case report
ESC Heart Failure, 2023 The case of a 49‐year‐old man with acute onset of heart failure is presented. The initial work‐up showed a dilated cardiomyopathy with severely reduced left ventricular ejection fraction.
Gustavo A. Lemus Barrios +3 more
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