Abstract
Hypertrophic cardiomyopathy (HCM) is a common, genetically heterogeneous inherited heart condition most frequently associated with pathogenic variants in genes encoding the cardiac sarcomere. Identifying at-risk relatives through cardiovascular screening and cascade genetic testing promotes early diagnosis and enables personalized management. Multispecialty expertise is required to efficiently and effectively engage HCM families in this process. Initial assessments include clinical evaluation, cardiac imaging, family history analysis, and genetic testing/counseling. These elements are optimally combined in a multidisciplinary family-based clinic which facilitates coordinated management and family support. Here we describe the rationale for, and components of, a multidisciplinary family-based HCM screening clinic.
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