Health-related quality of life is impaired in marfan syndrome and is strongly associated with lower exercise capacity

Abstract Introduction and objectives Marfan syndrome is a genetic multisystemic disorder, that affects the cardiovascular, musculoskeletal and visual systems, significantly impacting physical activity and quality of life. However, few studies have assessed the Health-related quality of life (HrQoL) of patients with Marfan syndrome (MFS), and its relation with exercise capacity. Methods Adult patients diagnosed with Marfan syndrome (MFS) who attended the cardiological follow-up consultation at a specialized centre, were consecutively included. The PROMIS-29 questionnaire was administered, which evaluates 8 domains: 5 related to physical health, 2 to mental health, and 1 to social role (Table1). The T-score value was obtained for each of the dimensions (The T-score in the reference population has an average value of 50 and a standard deviation of 10). A deviation of more than 5 points above or below (depending on the direction of the domain) was considered to imply some degree of impairment. A deviation of between 5 and 10 points was classified as mild, moderate for 10 to 20 points, and severe for deviations than 20 points. Some of these patients underwent CPET evaluation as part of the study protocol. Reduced exercise capacity was considered when oxygen consumption was 80% of the predicted value. Results A total of 64 adult patients with MFS were included. Mean age was 46.0± 13.8 years (range 18.9-81.9 years), with 60.9% being women. 59.4% had no prior aortic events, 26.6% elective David aortic root surgery, 9.4% elective Bentall surgery, and 4.7% prior aortic dissection. T-scores values for 7 domains are presented Table 1. Pain intensity score had a median of 4, with a 75th percentile of 6. Patients with Marfan syndrome showed marked impairment in all domains of physical, mental, and social health, most notably in pain interference, physical funcion, anxiety, and fatigue. There were no differences in scores based on gender, history of aortic event, or correlation with age. A total of 29 patients performed also a CPET evaluation, all with maximum effort. 15 (51.7%) presented a reduced exercise capacity (EC). PROMIS-29 domain’s T-scores are presented in Table2, showing marked differences in the group of reduced EC. Conclusions Patients with Marfan syndrome experience a significant reduction in health-related quality of life, affecting all domains evaluated in this study. The most pronounced impact is in pain interference, anxiety, physical function and fatigue. This decline in HrQoL is associated with reduced exercise capacity. Further research is needed to define effective intervention strategies to improve HrQoL in MFS, with cardiorespiratory rehabilitation being a potential approach.PROMIS-29 Domains impairment in MFS Comparison of PROMIS-29 scores and EC