Why the study?
Arrhythmogenic cardiomyopathy has a wide spectrum of genetic causes, and correct interpretation of genetic examinations is essential for a personalized management approach.
Genetic testing is a crucial diagnostic tool for the personalized management of arrhythmogenic cardiomyopathy, a disease driven by a wide spectrum of desmosomal and non-desmosomal mutations.
Accurate genetic interpretation aids ACM personalization; leaves open standardization of criteria for clinical and research use.
Arrhythmogenic cardiomyopathy (ACM) is a genetically determined disease with a high risk of sudden cardiac death (SCD). The spectrum of genetic causes of this disease is quite wide and includes mutations in both desmosomal and non-desmosomal genes. A positive result of a genetic examination is used as a diagnostic tool in patients with ACM, so its correct interpretation is one of the key factors in a personalized approach to managing a patient with this pathology. The review presents generalized modern ideas about the genetic nature of ACM.
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Kofeynikova et al. (2023) studied this question.
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