Living With Marfan Syndrome II: the Psychosocial and Health-related Quality of Life Effects of Surgical Interventions for Aorto-vascular Manifestations (LIMA II Study)

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. However, there is limited evidence worldwide on health-related quality of life (HRQoL) and psychosocial aspects of the recovery of MFS patients undergoing surgical intervention. Undergoing a heart operation can be a stressful and life-threatening experience involving a lot of uncertainties, long periods of absence from work and social activities as well as limitation on physical activities which can potentially lead to psychosocial problems and poor health-related quality of life. Therefore, there is a specific need for high quality descriptive and exploratory research in this area.

The overarching aim of this prospective observational cohort study is to explore the psychosocial and HRQoL effects of surgical interventions for aorto-vascular manifestations of MFS in three large UK cardiac centres. Potential participants will be recruited from the outpatient pre-admission clinic. HRQoL and psychosocial factors will be determined and quantified using validated questionnaires before surgery and at various time points after surgery (at 6 weeks after hospital discharge and at 6 and 12 months after surgery). The questionnaires will be delivered either in paper or electronic format, depending on participant's preference. In-hospital post-operative morbidity burden following aorto-vascular surgery using cardiac post-operative morbidity score (C-POMS) tool will also be determined from the patients and clinical records and its association with psychosocial and HRQoL outcomes will be examined.

The outcome of the study will significantly contribute to the UK and international evidence-base on the HRQoL and psychosocial impact of the aorto-vascular surgical interventions on MFS patients and will provide clinicians with the foundation that will serve as basis for appropriate interventions. 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.