Letter Regarding Article by Norman et al, “Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy”

摘要: To the Editor: Norman et al1 reported a family with autosomal dominant arrhythmogenic cardiomyopathy resulting from novel mutation in desmoplakin. From their clinicopathological findings, authors conclude that we are dealing left ventricular (ALVC). After our molecular discovery of desmoplakin as disease-causing gene right (ARVC),2 recently first genotype-phenotype analysis 4 families.3 Sen-Chowdhry al4 wrote an editorial on this article, emphasizing 50% carriers had clinical evidence LV involvement, data keeping previously pathology findings.5 In family, presence positive late potentials 64% and MRI RV abnormalities all strongly favor disease. Data QRS duration epsilon wave 12-lead ECG not reported. Moreover, while describing patchy gadolinium enhancement, they fail to mention RV. The patient who underwent endomyocardial biopsy fibrosis. Thus, features seem more ARVC prominent involvement than confined LV. Noteworthy, postmortem description heart boy …