This review highlights current knowledge about arrhythmogenic cardiomyopathy and considers clinical, pathological, genetic, biomechanical, and pathophysiological aspects of disease pathogenesis.
First-pass extracted concept
arrhythmogenic cardiomyopathy
Candidate: concept label1 source documents6 linked claims
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Evidence Snippets
Supporting Sources
Linked Claims
A highly arrhythmogenic phenotype is a cardinal feature of arrhythmogenic cardiomyopathy.
Quoted textsource-backed
The highly arrhythmogenic phenotype is a cardinal feature of the disease.
Arrhythmogenic cardiomyopathy is caused in at least half of cases by single-gene mutations.
Quoted textsource-backed
It is caused in at least half of all cases by single-gene mutations that provide direct entry points into studies designed to elucidate mechanisms of disease.
Disease-causing mutations in arrhythmogenic cardiomyopathy involve desmosomal proteins.
Quoted textsource-backed
These mutations involve proteins that form desmosomes
Arrhythmogenic cardiomyopathy is a useful model system for studying how abnormal cell and tissue biomechanics induce cardiac myocyte injury and alter cell biology.
Quoted textsource-backed
arrhythmogenic cardiomyopathy is of particular interest as a model system for study... providing opportunities to investigate more broadly the ways in which abnormal cell and tissue biomechanics induce cardiac myocyte injury and alter cell biology
Desmosome-involving mutations in arrhythmogenic cardiomyopathy directly implicate altered cellular biomechanical properties in disease pathogenesis.
Quoted textsource-backed
These mutations involve proteins that form desmosomes, directly implicating altered cellular biomechanical properties in disease pathogenesis
Understanding the pathogenesis of arrhythmogenic cardiomyopathy may illuminate mechanisms underlying lethal ventricular arrhythmias and sudden cardiac death in more common heart disease.
Quoted textsource-backed
A more complete understanding of the pathogenesis of this aspect of arrhythmogenic cardiomyopathy may shed light onto the basic mechanisms underlying lethal ventricular arrhythmias and sudden cardiac death in more common forms of heart disease.