Aggressive Aortopathy in neonatal Marfan syndrome

Background Neonatal Marfan syndrome is a rare, severe form of Marfan syndrome with a poor prognosis. Surgical intervention to address massive aortic root dilatation is uncommon as dissection rarely occurs, and death invariably results from congestive heart failure and recurrent respiratory infections. Case presentation An 11 month old female with a prenatal diagnosis of aortic root dilatation was aggressively treated both medically and surgically. Genetic testing revealed a partial deletion in FBN1 exons 46–50 and an addition 17q11 microdeletion. Valve-sparing aortic root remodeling was successful at eliminating her risk of a type A aortic dissection. Prior to surgery, however, her root caused significant left atrial and left lower pulmonary vein compression, which has not completely resolved. Conclusions Aortic dilatation occurs rapidly despite aggressive medical management. Root remodeling and atrioventricular valve repair are possible, but the durability of the latter is uncertain. It is possible that our patient’s combined gene mutations are exacerbating her disease.