Clinical presentation: Congenital heart block (CHB) in the absence of major structural abnormalities is associated with maternal antibodies to Ro (SS-A) and La (SS-B). CHB is most commonly diagnosed between 18 and 24 wk of gestation, and may be first, second or third degree (complete). Mortality approaches approximately 20%, and most surviving children require pacemakers. Affected infants may develop cardiomyopathy. Abnormalities in the skin, liver and blood of neonates are also associated with anti-Ro/La antibodies, and are usually self-limiting; these manifestations and CHB are collectively referred to as neonatal lupus syndromes (NLS).
Investigation of pathogenesis: Recent studies demonstrate that Ro/La ribonucleoproteins appear on the surface of apoptotic fetal cardiocytes and are recognized by their cognate antibodies, promoting an inflammatory response. Mice immunized with Ro/La proteins have offspring with conduction abnormalities. In vitro, human serum and IgG with anti-Ro/La antibodies affect the conducting properties of isolated animal heart tissue.
Diagnostic problems: If fetal bradycardia is identified, a 2-dimensional and M-mode fetal echocardiographic and Doppler ultrasound should be obtained to determine whether there is an atrial arrhythmia or atrioventricular (AV) block, and to what degree, and whether there are major structural abnormalities of the heart. The mother's serum should be tested by ELISA for anti-Ro and/or anti-La antibodies.
Therapeutic options: To date, only anecdotal and retrospective evidence guides in utero therapy of CHB. A prospective trial is currently underway to evaluate the efficacy of maternal oral dexamethasone in treating newly identified first, second or third degree block. Established third-degree block appears to be irreversible. Dexamethasone and sympathomimetics may be of some benefit in treating hydrops fetalis. In pregnant women with anti-Ro/La antibodies, prophylactic therapy is not indicated but serial echocardiographic analysis is strongly recommended, with emphasis on the mechanical PR interval to identify a reversible block.
Conclusion: CHB occurs in approximately 1-5% of pregnancies in mothers with anti-Ro/La antibodies, independent of the mother's disease status, and in approximately 15-20% of pregnancies following the birth of a child with NLS. Treatment of CHB identified in utero is not established but guidelines are provided. Serial echocardiographic monitoring of high-risk pregnancies, using the mechanical PR interval to identify first degree block, may afford the earliest opportunities for therapeutic intervention.