Vol. 7, Issue 2, Part B (2025)

Cardiomyopathies represent a heterogeneous group of diseases that impair the heart's ability to pump blood effectively, resulting in significant morbidity and mortality. These conditions, which include dilated, hypertrophic, restrictive, and arrhythmogenic right ventricular cardiomyopathy, are primarily caused by genetic mutations, environmental factors, and acquired diseases. Over the years, the pathophysiology of cardiomyopathies has evolved from being solely a mechanical dysfunction to a more complex interplay of molecular mechanisms, including alterations in myocardial contractility, electrophysiology, and cellular signaling pathways. Genetic mutations in genes encoding sarcomeric proteins are a hallmark of familial forms of cardiomyopathies, while acquired factors such as inflammation, ischemia, and oxidative stress also contribute to disease progression.
Recent advancements in molecular biology have revealed novel pathways that influence cardiomyocyte survival, apoptosis, and fibrosis, which are central to disease progression in various cardiomyopathies. The advent of high-throughput sequencing, RNA profiling, and CRISPR-Cas9 gene-editing technologies has allowed researchers to better understand the genetic and molecular underpinnings of these diseases. New therapeutic strategies targeting molecular pathways such as the calcium handling proteins, mitochondrial dysfunction, and fibrosis have shown promising preclinical and clinical results. These discoveries not only offer potential avenues for therapeutic intervention but also bring forth the possibility of personalized treatment approaches based on the individual genetic landscape of patients.
This review aims to provide a comprehensive overview of the current understanding of the molecular mechanisms involved in cardiomyopathies and to highlight emerging molecular targets for therapeutic development. By identifying these novel targets, we aim to improve clinical outcomes and offer hope for patients suffering from this debilitating group of diseases.