*2.4.2 Genetic causes of DCM*

In up to 30% of the cases, a gene mutation may be identified as the main cause of DCM [49]. Thanks to advances in next-generation sequencing technologies more than 40 genes have already been identified causing DCM [50]. Most commonly, familial DCM is inherited as an autosomal dominant pattern. Autosomal recessive, X-linked, and mitochondrial inheritance patterns are less common [24]. Most of the genes involved in the development of DCM encode structural elements of the cardiomyocytes. Mutations in genes encoding sarcomeric, cytoskeletal, desmosomal, nuclear membrane, mitochondrial, and RNA-binding proteins have all been linked to DCM [51]. Interestingly, several of the gene mutations linked to autosomal dominant DCM encode the same contractile proteins that are also responsible for the development of HCM [38]. As well, other affected genes are described in ARVC and left ventricular non-compaction cardiomyopathy (NCCM). In the following, we will describe the most investigated gene mutations and their consequences on the cardiomyocyte functioning.
