Living with an inherited cardiac condition : the Tasmanian experience

Introduction and Aims: As stated by the World Health Organisation, diseases affecting the heart and blood vessels, collectively known as cardiovascular diseases (CVDs), have remained the leading cause of mortality globally for more than two decades. While CVDs such as hypertension, coronary heart disease, stroke and heart failure are most common, there is a less recognised group of CVDs which are no less deadly to those who suffer from them. Inherited cardiac conditions (ICCs), like their name suggests, are a group of heart conditions that are passed on genetically through families. They affect people of any age and gender, and if left undiagnosed or untreated, can lead to sudden death. Inherited cardiac conditions are complex to diagnose and manage, and it is routinely recommended that people with these conditions are referred to dedicated cardiogenetic clinics for management as well as genetic testing, and that first-degree relatives are screened for the condition. Despite the risks associated with them, relatively little is known about ICCs, particularly understanding how people live with and make sense of these conditions, and how medical professionals manage and influence this experience, particularly in regional and rural areas, outside of specialised settings (i.e., outside of tertiary centres with specialised cardiogenetics clinics). This thesis aims to explore how people with ICCs who live in the state of Tasmania, Australia, live with and experience their condition, with two key research questions explored to understand this aim: 1. What is the knowledge and experience of medical professionals managing ICCs in Tasmania? 2. What are the experiences and understanding of people living with ICCs in Tasmania? Methods: A mixed methods approach was employed to address the study aims using an explanatory sequential design, with the research completed in four phases. The first two phases involved surveying general practitioners (GPs) and cardiologists in Tasmania, Australia, regarding their experience and knowledge of managing patients with ICCs. The third phase involved surveying people with ICCs enrolled on the Tasmanian Branch of the Australian Genetic Heart Disease Registry using a questionnaire designed to gain information regarding their experience of living with an ICC, and the Short-Form 36 Version 2. The fourth phase involved semi-structured interviews with people living with ICCs in Tasmania. Questionnaire data were analysed using descriptive statistics, and interview data were analysed using a phenomenological lens. Results: One hundred and forty-four Tasmanian GPs responded to the questionnaire (response rate 21%). 81.3% of GPs were managing at least one ICC in their practice, however, there was a lack of confidence regarding their perceived ability to manage these patients, with 63.1% of GPs self-reporting that they were not confident regarding their knowledge of ICCs. General practitioners recognised that a multidisciplinary approach to managing these patients is important and looked to the cardiologist for guidance on management and the need for genetic testing. Four Tasmanian cardiologists (response rate 25%) responded to the questionnaire, with all four acknowledging that cardiologists should be responsible for referring a patient diagnosed with an ICC for genetic testing. Two out of four cardiologists did not feel confident about their knowledge regarding ICCs. Sixty-four Tasmanian people with ICCs enrolled on the Tasmanian Branch of the Australian Genetic Heart Disease Registry responded to the questionnaire (response rate 65%), with GPs and cardiologists being noted as the key people involved in their care. Only 27% had been offered genetic testing. Health status assessed using the Short Form-36 Version 2 indicated a comparable health status to the general Australian population when considering aggregate scores (physical component summary score 47.2 vs 49.8 for the Australian population, and mental component summary score 49.3 vs 50.0 for the Australian population). Findings from the semi-structured interviews with ten people living with ICCs revealed that they share a common period prior to diagnosis (the prodromus‚ÄövÑvp), and they then absorb the diagnosis and search for understanding around it, including through conversations with family members. Once this occurs, they learn to adjust and carry on as 'normal', with the lived experience including the need to educate others regarding their condition, regularly travelling for treatment with poor access to specialist care locally, and 'muddling through' the experience as best they can. Living with the 'unknown' aspects of their conditions was a prevalent theme amongst participants, as well as a reliance on local medical professionals for information and support, to help them through this journey. Conclusion: This study is the first to specifically investigate the experience of people living with ICCs in regional and rural areas, without ready access to specialised cardiogenetics clinics. Using a mixed method approach, the findings provide new insights and perspectives into how people live with ICCs outside of specialised settings. The thesis shows that living with an ICC in regional or rural areas is a unique experience for people, which is heavily influenced by their relationship with their GP. Despite overall health status being similar to the general Australian population, the journey to their diagnosis can be long, and influenced by limited access to specialist care. Given the lack of confidence felt by GPs and cardiologists in managing the care of patients with ICCs in this setting, further work is needed to support medical professionals outside of specialised settings to increase their knowledge of these conditions. Further consideration should also be given as to how to improve access to guideline-directed care for people with ICCs, particularly given the low rates of genetic testing offered, including telehealth opportunities.