Abstract
Cardiomyopathy is a condition that may have a genetic basis. It is a serious ailment because it affects almost half of the individuals who die suddenly in childhood, adolescence, or related to heart transplant procedures. The inheritance patterns of this disease can vary. For example, as described in the work on HCM and ARVC, they are inherited in an autosomal dominant manner. De novo mutations may involve genes related to myofilaments, Z-discs, components related to cellular calcium handling, or desmosomes, among others. However, detailed molecular aspects should be correlated with clinical features because changes within a single gene may be associated with diverse abnormalities. Depending on the manifestation of the action of certain allele changes, they may range from microscopic deviations to causing heart failure and impaired blood flow through other organs, thereby disrupting the functionality of the entire body, hindering daily life and lowering its quality. Currently, the analysis of the degree of interaction of genetic determinants in cardiomyopathy is becoming increasingly accessible due to modernization and improvement of tools in the field of diagnosing anomalies in gene sequences and expression. A more precise understanding of causative mutations and associated conditions may contribute to determining strategic points for the future regarding the most beneficial course of action in specific circumstances and evaluating the effectiveness of the steps taken in the long run. In addition to mutations typically causing cardiomyopathy, there are also mutations contributing to their development within the spectrum of other diseases. This includes the PRKAG2-related cardiac syndrome, associated with abnormal metabolism, Danon disease, mitochondrial disorders, ion channelopathies, or conduction disorders.