Genetic consultation in cardiomyopathies

Cardiomyopathies are heterogeneous heart muscle disorders whose classification is based on detailed clinical phenotypes. Care of patients with cardiomyopathies should routinely include data collection of family history to build accurate pedigrees. While the diagnosis still rests on morphological and functional criteria that are used to define different clinical subtypes, many cardiomyopathies are in fact genetic diseases. Thus, the definition of the specific genetic background beyond a given phenotype is key to profiling prognosis and personalising clinical care. As a consequence, cardiologists should actively play a role at each stage of the genetic pathway. Phenotyping of patients and their relatives informs decisions on whether genetic testing should be initiated, and supports the prescription of the appropriate genetic test. Subsequently, the interpretation of genetic variants - including negative or non-significant tests, the genotype-phenotype discordance, the return of results to patients, and the tailoring of family screening - are tasks that cardiologists caring for patients with cardiomyopathies should be confident with. This FOCUS aims to support cardiovascular clinicians in implementing the approach to genetic counselling and testing for cardiomyopathies as described in the 2023 ESC Guidelines for the Management of Cardiomyopathies, favouring the integration of genetic testing into the diagnostic pathways of these patients. Explore these resources, which include congress sessions, webinars, journal articles, textbook chapters, and an ESC eLearning course.