Genetic testing and counseling for genetic cardiomyopathies identify at-risk relatives and guide clinical surveillance to enhance preventive and treatment interventions.
This review highlights the growing role of genetic testing and counseling in the management of genetic cardiomyopathies, particularly for identifying and monitoring at-risk family members.
This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy, with salient features of hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy, regarding genetic etiology, genetic testing, and genetic counseling. Enormous progress has recently been made in identifying genetic causes for each cardiomyopathy, and key phenotype and genotype information is reviewed. Clinical genetic testing is rapidly emerging with a principal rationale of identifying at-risk asymptomatic or disease-free relatives. Knowledge of a disease-causing mutation can guide clinical surveillance for disease onset, thereby enhancing preventive and treatment interventions. Genetic counseling is also indicated for patients and their family members regarding the symptoms of their cardiomyopathy, its inheritance pattern, family screening recommendations, and genetic testing options and possible results.
Hershberger et al. (2009) conducted a review in Genetic cardiomyopathies. Genetic testing and counseling was evaluated. Genetic testing and counseling for genetic cardiomyopathies identify at-risk relatives and guide clinical surveillance to enhance preventive and treatment interventions.