Pathogenic variants in structural and signalling proteins, including TTN, FHL1, CSRP3, FLNC, and PLN, disrupt cardiac signalling networks and contribute to the development of inherited cardiomyopathies.
Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively, which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies.
Ehsan et al. (Tue,) conducted a review in Cardiomyopathies. Pathogenic variants in structural and signalling proteins, including TTN, FHL1, CSRP3, FLNC, and PLN, disrupt cardiac signalling networks and contribute to the development of inherited cardiomyopathies.
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