Living With Marfan Syndrome and Your Aorta

Overview

Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality. Thus, MFS patients require lifelong cardiac surveillance. Living with a diagnosis of Marfan Syndrome and aorto-vascular manifestations affects patients' mental health, well-being and quality of life in ways that are not well understood. This study will address the current knowledge gaps in this area and will provide the information needed to design interventions for MFS patients with aorto-vascular problems to help improve the patients' mental health, well-being and quality of life. The study will include adult MFS patients who have been diagnosed with aorto-vascular problems. The overall aim of the study is to explore the psychosocial and health-related quality of life (HRQoL) effects of the diagnosis for aorto-vascular manifestations of MFS in 3 large UK cardiac centres. To achieve this, the researchers will ask the potential participants, after obtaining informed consent, to complete a series of accepted/validated questionnaires to measure the study participants' health-related quality of life (SF-36 and EQ5D questionnaire) and psychosocial factors such as depression (CES-D questionnaire), fatigue (Fatigue Severity Scale), stigma (Perceived Stigma Questionnaire), self-esteem (Rosenberg Self-esteem Scale), pain and illness perception (Illness Perception Questionnaire). The researcher will also conduct a one-to-one semi-structured interview with some participants to identify factors important to patients that are not captured in the questionnaires used.

Marfan Syndrome (MFS) is a rare autosomal-dominant connective tissue disorder with pleiotropic manifestations primarily affecting the skeletal, ocular, and cardiovascular systems. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality, requiring lifelong cardiac surveillance. Since diagnosis is made on average at 19 years old and life expectancy has increased considerably from 32 years in the 1970s, to 41 years in the 1990s and is now comparable to the general population (with the introduction of prophylactic aortic surgery), MFS patients have to live knowing that at least one major heart surgery is required in the patients' lifetime. Further, from the researchers' clinical experience, not all individuals with MFS perceived their cardiovascular conditions as treatable. Hence, the impact of knowing that they have aortovascular manifestations may be more striking than in other age and sex-matched cardiac surgical population. To date, there is still no available study assessing the impact of this diagnosis on the health-related quality of life (HRQoL) and psychosocial aspect of MFS patients. The overarching aim of the study is to explore the psychosocial and HRQoL effects of the diagnosis for aorto-vascular manifestations of MFS in three large UK cardiac centres. This will be achieved using a mixed-method approach consisting of two studies. Study 1 (S1) is a quantitative observational exploratory study while Study 2 (S2) is a qualitative exploratory study using semi-structured interviews to identify factors important to patients that are not captured in the questionnaires used in S1. Potential participants will be recruited from the aortopathy clinic. HRQoL and psychosocial factors will be determined and quantified using validated questionnaires which will be delivered either in paper or electronic format, depending on participants' preference. The outcome of the study will contribute to the UK and international evidence-base on the HRQoL and psychosocial impact of the diagnosis of aortovascular manifestations on MFS patients. The result will also be useful to better understand the condition and potentially guide the researchers in devising a patient care pathway that includes this aspect of care as well as develop a holistic and comprehensive service for this patient group.