Diversity of cardiomyopathy phenotypes caused by mutations in desmin

We appreciate Drs. Grasso et al. thoughtful analysis of our recent article [1,2] and their support for the major points we communicated. After the original report by Li et al. [3] describing a large family with dilated cardiomyopathy (DCM) caused by a desmin mutation, most subsequent reviews upheld the notion that DCM was the exclusive phenotype associated with desminopathy. Our analysis of a family with restrictive cardiomyopathy (RCM) and an increasing number of case reports from other groups contradict this view and suggest that other types of cardiomyopathy are also frequently seen in patients with desmin mutations [4,5]. To evaluate the relative frequency of desminopathy phenotypes, we analyzed available data on specific types of cardiomyopathy in patients carrying desmin mutations.