LAUSR

Hypertrophic cardiomyopathy (HCM) affects 1 in 200 people and is the most common cause of sudden cardiac death in the young. Given that HCM usually is inherited in an autosomal dominant pattern, an HCM diagnosis has implications for biologically related family members. The purpose of this study was to explore probands’ disclosure of an HCM diagnosis with these biologically related, at-risk family members. An online survey was posted on the website of the Hypertrophic Cardiomyopathy Association (HCMA), an advocacy and support group for HCM patients and their families. Descriptive statistics were used to summarize responses to closed-ended questions and demographics. Using an iterative content analysis with the constant comparison approach, we analyzed the responses to open-ended questions inquiring about the nature and role of disclosure communication with at-risk relatives. A total of 315 individuals with a self-reported diagnosis of HCM completed the survey. Most participants (98%) disclosed their diagnosis to at-risk family members. Sixty-four percent disclosed to family members less than 1 year after diagnosis. Participants also disclosed potential treatment options (74.6%) and the emotional impact of the diagnosis (39%). HCM specialists were ranked by participants as being the most helping in explaining the benefit of genetic counseling, while genetic counselor were ranked as least helpful. Emerging themes address the need to encourage screening and genetic testing among family members and to identify external educational resources for use during the disclosure process. Importantly, our study found that the process of disclosure varies based on individuals’ experiences and family communication dynamics. However, almost all participants expressed the importance of disclosing the diagnosis of HCM as well as the importance of being screened and expressed needs for additional support during the disclosure process.