Living With Marfan Syndrome and Your Aorta
Living With Marfan Syndrome and Your Aorta
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.
Inclusion Criteria:

 1. >/= 18 years old;

 2. have validated diagnosis of MFS (using revised Ghent criteria);

 3. diagnosed with aorto-vascular manifestations

 Exclusion Criteria:

 1. <18years old

 2. Unable or unwilling to give written informed consent.

 3. Inability to understand written and/or verbal English