Cardiomyopathy affects approximately 1 in 500 adults and is the leading cause of death. Familial cases are common, and mutations in many genes are involved in cardiomyopathy, especially those in genes encoding cytoskeletal, sarcomere, and nuclear envelope proteins. Filamin C is an actin-binding protein encoded by filamin C (FLNC) gene and participates in sarcomere stability maintenance. FLNC was first demonstrated to be a causal gene of myofibrillar myopathy; recently, it has been found that FLNC mutation plays a critical role in the pathogenesis of cardiomyopathy. In this review, we summarized the physiological roles of filamin C in cardiomyocytes and the genetic evidence for links between FLNC mutations and cardiomyopathies. Truncated FLNC is enriched in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Non-truncated FLNC is enriched in hypertrophic cardiomyopathy and restrictive cardiomyopathy. Two major pathomechanisms in FLNC-related cardiomyopathy have been described: protein aggregation resulting from non-truncating mutations and haploinsufficiency triggered by filamin C truncation. Therefore, it is important to understand the cellular biology and molecular regulation of FLNC to design new therapies to treat patients with FLNC-related cardiomyopathy.

心肌病影响大约每 500 名成年人中的 1 人，是导致死亡的主要原因。家族性病例很常见，许多基因的突变与心肌病有关，特别是那些编码细胞骨架、肌节和核膜蛋白的基因。细丝蛋白C是由细丝蛋白C（FLNC ）基因编码的肌动蛋白结合蛋白，参与肌节稳定性维持。FLNC首次被证明是肌原纤维肌病的致病基因；最近发现FLNC突变在心肌病的发病机制中起关键作用。在这篇综述中，我们总结了细丝蛋白 C 在心肌细胞中的生理作用以及FLNC之间联系的遗传证据。突变和心肌病。截短的FLNC富含扩张型心肌病和致心律失常性右心室心肌病。非截短FLNC富含肥厚型心肌病和限制性心肌病。已经描述了FLNC相关心肌病的两种主要病理机制：非截短突变导致的蛋白质聚集和细丝蛋白 C 截短引发的单倍体不足。因此，了解 FLNC 的细胞生物学和分子调控对设计治疗FLNC相关心肌病患者的新疗法非常重要。