Phenotypic Patterns of Cardiomyopathy Caused by Mutations in the Desmin Gene. A Clinical and Genetic Study in Two Inherited Heart Disease Units.

Desminopathies are a largely autosomal dominant group of rare diseases caused by mutations in the desmin gene. Because desmin is the main component of intermediate filaments in cardiac, skeletal, and smooth muscle and of Purkinje fibers, these conditions are characterized by skeletal myopathy and cardiomyopathy (mainly restrictive) with arrhythmias or conduction disorders. The aim of our present study was to analyze the genotype and phenotype of patients with desmin mutation-related cardiomyopathy. Because published series normally include few patients,