Living With Hypertrophic Cardiomyopathy

AbstractPurpose: The purpose of this study is to provide an insider's account of what it is like to live with hypertrophic cardiomyopathy (HCM), a genetic cardiovascular illness that carries the risk for sudden cardiac death. This study aims to reveal how HCM impacts the family and guides the decision whether or not to pursue genetic testing, how the physical limitations associated with HCM alter being-in-the-world, and how HCM alters social relationships.Design: Fifteen adults with HCM were recruited for a longitudinal, phenomenological, qualitative study through purposive sampling and word of mouth. A total of 45 interviews were conducted by the researcher at a time and place designated by the participant between August 2011 and January 2012. The first interview with each participant was conducted in person. While efforts were made to conduct all interviews in person, a total of three interviews were conducted by telephone as requested by three participants due to scheduling conflicts.Methods: Through methods of interpretive phenomenology, three audiorecorded, semistructured interviews occurred over the course of 3 months. Detailed narratives were solicited and transcribed verbatim. Methodological and analytical documentation was supported with the identification of key phrases, similar experiences, themes, and documentation of the rationale for decisions throughout the research process.Conclusions: Participation in genetic testing carries a multitude of personal, familial, financial, and emotional implications. The results of a genetic test elicited an emotional response regardless of whether the results were negative, positive, or inconclusive. Living with a potentially life-threatening illness altered identity, disrupted social relationships, and generated chronic fear and uncertainty. A new normal was re-ordered or transformed by the demands and limitations posed by HCM, and by the person's concerns, priorities, and the meaning of the illness.Clinical Relevance: Results from this study underscore the need for healthcare professionals to learn more about HCM and to conduct screenings that will facilitate a prompt and accurate diagnosis. In doing so, the risk for sudden cardiac death may be averted. There is a need to educate and to advocate for genetic testing of HCM. It is necessary for healthcare providers to move beyond their biomedical understanding of genetic illness and to address the lived experience of the illness, how the illness impacts the family, and the multifaceted concerns of people who have a genetic illness as well as the concerns of their family members.Key wordsHypertrophic cardiomyopathy, interpretive phenomenology, genetic, qualitativeHypertrophic cardiomyopathy (HCM) is an autosomaldominant, cardiovascular disorder that carries the risk for sudden cardiac death (SCD), accounting for 36% of unexplained SCD in high school and college athletes (Maron et al., 2009). The annual risk for SCD due to HCM is approximately 1%, and the estimated occurrence of HCM is 1:500 persons (Ho, 2012). This global illness only receives public awareness during the unfortunate incident of an athlete who dies of SCD. Though HCM has a much higher incidence than cystic fibrosis, muscular dystrophy, and multiple sclerosis, awareness of HCM is limited (Barsheshet, Brenyo, Moss, & Goldenberg, 2011; March of Dimes Foundation, 2007). An abundance of biomedical research exists about HCM, but there is minimal research on the human experience, meaning, and suffering with this illness. The purpose of this study is to provide an insider's account of what it is like to live with HCM, to reveal how HCM impacts the family and guides the decision about whether or not to pursue genetic testing, and how HCM alters social relationships.Hypertrophic CardiomyopathyHCM is an excessive, asymmetrical thickening of the heart's left ventricle or the ventricular septum without association to other forms of cardiac disease (Ho, 2012). …