The mutations of sarcomere filament protein and cytoskeletal protein were largely found in familial DCM, and the mutations in mitochondrial DNA were also found in familial DCM.

• 目前为止，发现的和扩张型心肌病相关的基因突变主要是心肌蛋白基因突变和细胞骨架蛋白基因突变，此外还有线粒体DNA的突变和能量代谢相关的基因突变。