Diversity of cardiomyopathy phenotypes caused by mutations in desmin

Int J Cardiol 131(1):2 (2008) PMID 18160148

We appreciate Drs. Grasso et al. thoughtful analysis of our recent article [Grasso M, Pilotto A, Marziliano N, Pasotti M, Arbustini E ''Letter by Maurizia Grasso et al regarding article, Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation''; Pruszczyk P, Kostera-Pruszczyk A, Shatunov A, et al. Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int J Cardiol 2007;117:244-53] and their support for the major points we communicated. After the original report by Li et al. [Li D, Tapscoft T, Gonzalez O, et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999; 100:461-4] 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 [Arbustini E, Pasotti M, Pilotto A, et al. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail 2006;8:477-83; Luethje LG, Boennemann C, Goldfarb L, Goebel HH, Halle M. Prophylactic implantable cardioverter defibrillator placement in a sporadic desmin related myopathy and cardiomyopathy. Pacing Clin Electrophysiol 2004;27:559-60] contradict this view and suggest that other types of cardiomyopathy are also frequently seen in patients with desmin mutations. To evaluate the relative frequency of desminopathy phenotypes, we analyzed available data on specific types of cardiomyopathy in patients carrying desmin mutations.