Association between subjective well‐being and perception of medical care system among patients with Marfan syndrome: A cross‐sectional study

Abstract

Marfan syndrome (MFS) is an autosomal dominant hereditary disorder of connective tissues. The cause of MFS was thought to be primarily mutation in the FBN1 gene (MIM: 134797). The dysfunctional transforming growth factor (TGF-β) cytokine plays a more critical role in extracellular matrix homeostasis or remodeling (Gonzales, 2009;Neptune et al., 2003). Ghent criteria 1 and 2 have been used for diagnoses since 1996 and 2010, respectively (De Paepe et al., 1996;Loeys et al., 2010). In the revised Ghent criteria for diagnosis of MFS, genetic factors such as a pathological gene mutation and a family history are more important than skeletal findings. MFS occurs in approximately 2-3 per 10000