How and Why to Organise Family-Based Screening Clinics for Hypertrophic Cardiomyopathy

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 personalised 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/counselling. These elements are optimally combined in a multidisciplinary family-based clinic that facilitates coordinated management and family support. Here we describe the rationale for, and components of, a multidisciplinary family-based HCM screening clinic.