Genetic mutations associated with familial dilated cardiomyopathy and precision medicine

Gene mutation plays an important role in the pathogenesis of familial dilated cardiomyopathy (FDCM). The development of next generation sequencing technology (NGS) increases the clinical application of gene detection and gene diagnosis, and promotes the development of precision medicine. The continuously discovered pathogenic genes are helpful to reveal the pathogenesis of FDCM, promote the early diagnosis and treatment of FDCM, and improve the prognosis of patients. At present, about 60 gene mutations have been found to be associated with the pathogenesis of FDCM. Therefore, this paper introduces the main pathogenic genes related to FDCM, including Titin (TTN), Lamin A (LMNA), sarcomere contractile protein, BAG3, TAZ, SCN5A, RNA binding motif protein 20 (RBM20), phospholammban (PLN) and cytoskeletal protein gene. Key words: Cardiomyopathy, dilated, familial; Genetic mutation; Genetic testing; Next generation sequencing technology; Precision medicine