0205 : Cause of death in Marfan syndrome

Abstract

the last 30 years have been associated with increased survival of 30 years in patients with Marfan syndrome. AWe thought to assess cause of death in patients with Marfan syndrome who were seen in the CNMR Syndrome de Marfan and related patients who came at least once in CNMR, had a diagnosis of MFS with a FBN1 gene mutation were identified; patients who died where selected. 53 deaths were reported among the 1253 patients. Median age at death was 41 years and 35% were women. Three deaths occurred in children affected by a neonatal form of MFS: cause of death was 1) acute respiratory failure in a 2 years old boy with severe mitral regurgitation and severe restrictive respiratory failure, 2) post-operative death after planned surgery for MR and aortic aneurysm in a 4 years old boy and 3) sudden death in a 6 years old boy with aortic root diameter at 42mm;Thirteen deaths occurred after planned aortic surgery.Surgery has been performed for isolated aortic root dilatation or with mitral valve repair, Redo surgery, aortic root dilatation after supracoronary tube implantation, false aneurysm after a Bentall, dilatation of dissected thoracic descending aorta or mitral valve repair. Ten deaths were related to acute aortic events: Dissection of ascending aorta in 8, descending aorta in 1 and abdominal aorta in 1. Six patients died after myocardial infarction, Stroke, heart failure, aortic mechanical prosthesis thrombosis, ruptured mitral. Nine sudden cardiac deaths without autopsy performed were reported.Three deaths were related a mechanical aortic valve endocarditis in 2 patients and one patient died of a hemorrhagic shock complicating anticoagulation. Lastly, 9 deaths were non cardiac. In MFS patients with a FBN1 gene mutation, cardiovascular deaths remains the leading cause of death despite increase in life expectancy associated with the modern care of the patients. Notably, post-operative mortality is high in this population. The author hereby declares no conflict of interest