Genetic testing is a valuable tool for risk stratification of family members, prognosis of probands, and identification of new mutations in the management of inherited cardiomyopathies.
This review highlights the importance of genetic testing in the risk stratification, prognosis, and management of inherited cardiomyopathies.
Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies. As novel mutations have been identified, understanding when to consider genetic testing has emerged as an important consideration in the management of these cases. Specific genetic testing has a paramount importance in the risk stratification of family members, in the prognosis of probands at higher risk of a serious phenotype expression, and finally in the identification of new mutations, all of which are discussed in this review. The indications for each type of cardiomyopathy are described, along with the limitations of genetic testing. Finally, the importance of public sharing of variants in large data sets is emphasized. The ultimate aim of this review is to present key messages about the genetic testing process in order to minimize potential harms and provide suggestions to specialized clinicians who act as a part of a multidisciplinary team in order to offer the best care to families with inherited cardiomyopathies.
Vogiatzi et al. (Wed,) conducted a review in Inherited cardiomyopathies. Genetic testing was evaluated. Genetic testing is a valuable tool for risk stratification of family members, prognosis of probands, and identification of new mutations in the management of inherited cardiomyopathies.