A review of cardiac myofilament contractility highlights that contractile dysfunction, driven by sarcomeric and non-sarcomeric mutations, plays a central role in the progression of cardiomyopathies.
This review summarizes current knowledge on how genetic mutations alter cardiac myofilament contractility and contribute to the development of cardiomyopathies.
About half of hypertrophic and dilated cardiomyopathies cases have been recognized as genetic diseases with mutations in sarcomeric proteins. The sarcomeric proteins are involved in cardiomyocyte contractility and its regulation, and play a structural role. Mutations in non-sarcomeric proteins may induce changes in cell signaling pathways that modify contractile response of heart muscle. These facts strongly suggest that contractile dysfunction plays a central role in initiation and progression of cardiomyopathies. In fact, abnormalities in contractile mechanics of myofibrils have been discovered. However, it has not been revealed how these mutations increase risk for cardiomyopathy and cause the disease. Much research has been done and still much is being done to understand how the mechanism works. Here, we review the facts of cardiac myofilament contractility in patients with cardiomyopathy and heart failure.
Vikhorev et al. (Tue,) conducted a review in Cardiomyopathies and heart failure. A review of cardiac myofilament contractility highlights that contractile dysfunction, driven by sarcomeric and non-sarcomeric mutations, plays a central role in the progression of cardiomyopathies.