Genetics of right ventricular cardiomyopathy.

摘要: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, failure, and sudden death. The hallmark pathological findings are progressive myocyte loss fibrofatty replacement, with a predilection for the ventricle. However, variants of ARVC preferentially affect left ventricle increasingly recognized. distinguished from dilated by propensity toward arrhythmia death absence significant dysfunction. In majority families, shows autosomal dominant inheritance incomplete penetrance. Recessive forms also described, often association cutaneous disorders. Causative mutations have so far been identified plakoglobin, desmoplakin, plakophilin, all which encode key components desmosome. Desmosomes protein complexes anchor intermediate filaments to cytoplasmic membrane adjoining cells, thereby forming three-dimensional scaffolding provides tissues mechanical strength. Unraveling genetic etiology has elicited new model pathogenesis. Impaired functioning cell adhesion junctions during exposure shear stress lead detachment death, accompanied inflammation repair. At least three mechanisms contribute arrhythmic substrate: bouts myocarditis, fibrous adipose infiltrates facilitate macroreentry, gap junction remodeling secondary altered coupling. latter underlie arrhythmogenicity early disease. Although can be considered desmosome, variety other defects give rise phenocopies, ultimately enhance our understanding broad phenotypic spectrum.