Advanced Evolution of Pathogenesis Concepts in Cardiomyopathies

作者: Chia-Jung Li , Chien-Sheng Chen , Giou-Teng Yiang , Andy Po-Yi Tsai , Wan-Ting Liao

DOI: 10.3390/JCM8040520

关键词: PathogenesisBioinformaticsHeart failureProtein kinase BTitinSudden cardiac deathMedicineCardiomyopathyTroponinPopulation

摘要: Cardiomyopathy is a group of heterogeneous cardiac diseases that impair systolic and diastolic function, can induce chronic heart failure sudden death. prevalent in the general population, with high morbidity mortality rates, contributes to nearly 20% deaths younger individuals. Genetic mutations associated cardiomyopathy play key role disease formation, especially mutation sarcomere encoding genes ATP kinase genes, such as titin, lamin A/C, myosin heavy chain 7, troponin T1. Pathogenesis occurs by multiple complex steps involving several pathways, including Ras-Raf-mitogen-activated protein kinase-extracellular signal-activated pathway, G-protein signaling, mechanotransduction B/phosphoinositide 3-kinase signaling. Excess biomechanical stress induces apoptosis signaling cardiomyocytes, leading cell loss, which myocardial fibrosis remodeling. The clinical features pathophysiology are discussed. Although basic studies have investigated mechanism cardiomyopathy, detailed remains unclear. This review summarizes current concepts focuses on molecular mechanisms from phenotype, aim informing development therapeutic interventions.

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