Co ‐existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link

AbstractFBN1 gene encodes for the connective tissue protein fibrillin ‐1 which can also regulate the profibrotic cytokine transforming growth factor (TGF)‐ß1. Mutations in theFBN1 gene cause Marfan syndrome (MFS), a genetic condition with defective connective tissues.FBN1 haplotypes and single nucleotide polymorphisms have also been reported to be associated with systemic sclerosis (SSc), a connective tissue disease characterized by fibrosis of multiple organs. Furthermore, the duplication of theFbn1 gene causes a SSc ‐like disease in the TsK1 mouse model. To the best of our knowledge, there are no reports of MFS and SSc co‐existing in a patient. Here, we describe a 46‐year‐old woman who presented with cardiac failure. She had a family history of MFS. Physical examination revealed marfanoid habitus and sc leroderma features. Echocardiography demonstrated dilated cardiomyopathy with aortic root dilatation, aortic regurgitation and mitral regurgitation. Cardiac magnetic resonance imaging was consistent with dilated cardiomyopathy, mid‐wall fibrosis at basal septal wall and dilated aortic root. Extrac table nuclear antigen panel detected anti‐Scl 70. She fulfilled Ghent criteria for MFS and satisfied American College of Rheumatology/ European League Against Rheumatism classification criteria for SSc. Although we do not have theFBN1 sequence in our patient, the co ‐existence of MFS and SSc in this patient raises the possibility of co‐existence of distinct mut...
Source: International Journal of Rheumatic Diseases - Category: Rheumatology Authors: Tags: CASE REPORT Source Type: research