Congenital Heart Block: Epidemiology, Etiology and Pathogenesis

Congenital heart block (CHB) is the most severe manifestation of Neonatal lupus erythematosus syndrome, which is often described as a model of passively acquired autoimmunity. CHB constitutes a unique model where specific maternal autoantibodies target and mediate fetal organ-specific disease. The essay will first review the studies that are at the basis of the definition of autoantibody-associated CHB and its differentiation from congenital heart block in fetuses with cardiac abnormalities. After analyzing the role of Neonatal lupus erythematosus in congenital heart block development, disease epidemiology will be exposed po inting out relevant problems resulting from the low incidence of CHB. Through the exposition of the last studies, a detailed overview of a possible process converting maternal antibody binding, to a profibrotic damaging event, will be provided. Fetal factors, including genetic predisposition and candidate polymorphisms evaluated to date, will be briefly discussed. This essay will also present some of the future perspectives discussed during “The 14 Congress of the European League Against Rheumatism” held in Madrid from 12 to 15 June 2013. Cover picture: Artwork by New York artist Rachel Urkowitz (email: [email protected]) representing autoantibodies that cross the placenta and cause congenital heart block in the fetus.