Abstract
Background Cardiomyopathy, a rare heart disease, is characterized by abnormalities in cardiac wall thickness and chamber size, leading to impaired contraction, relaxation, conduction, rhythm, and reduced pumping ability. Aim This review aims to provide a comprehensive understanding of cardiomyopathy by examining its various aspects Method A literature survey was conducted using online databases such as PubMed, Google Scholar, and Web of Science, covering publications from January 1995 to July 2023. Result Genetic mutations in key muscle contraction genes (MYH7, MYL2, MYL3, MYBPC3, TNNT2, TPM1, TNNI3, ACTC) contribute to cardiomyopathy. Additionally, epigenetic markers in genes like FKBP5, TBX5, HAND1, POLA2, PLAAT3, and CCDC88B, along with environmental factors such as alcohol addiction, smoking, and stress, significantly influence disease risk. Genetic testing, including whole exome/genome sequencing, has revolutionized diagnosis, enabling early detection and intervention. Familial genetic testing facilitates personalized management. Conclusion Cardiomyopathy is a complex disease with genetic and environmental influences. Various techniques, including genetic testing, aid in its identification and management. Furthermore, machine learning (ML) techniques have emerged as valuable tools in understanding and predicting cardiomyopathy outcomes.
Published Version
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