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

Abstract

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