Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.

摘要: Naxos disease is a recessive association of arrhythmogenic right ventricular cardiomyopathy (ARVC) with wooly hair and palmoplantar keratoderma or similar skin disorder. The clinical histopathological spectrum heart disease, molecular genetics genotype-phenotype correlation are reviewed in 22 affected families this cardiocutaneous syndrome reported the literature from Greece, Italy, India, Ecuador, Israel Turkey. All patients had phenotype infancy developed ARVC by adolescence. Mutations genes encoding cell adhesion proteins piakoglobin desmoplakin that truncate at C-terminal domains were identified to underlie syndrome. A particular mutation Ecuadorian truncates intermediate filament-binding site results variant predominantly left involvement, early morbidity overlapping dilated (Carvajal syndrome). lethal autosomal Poll Hereford calves has been Australia sharing similarities human here respect cardiac phenotype. syndromes presents increased arrhythmogenicity variable involovement characterized histologically myocardial loss fibrofatty fibrous replacement subepicardial mediomural layers. heterogeneity tissue characteristics cell-adhesion might be specific leads consideration should broadened.