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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Nonischemic left ventricular scar and cardiac sudden death in the young [PDF]
, 2016 Nonischemic Left Ventricular Scar (NLVS) is a pattern of myocardial injury characterized by midventricular and/or subepicardial gadolinium hyper enhancement at cardiac magnetic resonance, in absence of significant coronary artery disease.
CERBELLI, BRUNA +10 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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Accuracy of prediction of infarct-related arrhythmic circuits from image-based models reconstructed from low and high resolution MRI. [PDF]
, 2015 Identification of optimal ablation sites in hearts with infarct-related ventricular tachycardia (VT) remains difficult to achieve with the current catheter-based mapping techniques.
Arevalo, Hermenegild +7 more
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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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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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Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement [PDF]
, 2019 Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease.
Bonnen, Penelope E +16 more
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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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