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Neonatal lupus
Antonio Brucato1, Rolando Cimaz, Marco Stramba-Badiale
1Divisione Medica Brera and Rheumatology, Ospedale Niguarda, Milan, Italy. brucato.guareschi@libero.it
Insights
Congenital heart block (CHB) is a rare disorder linked to maternal anti-Ro/SSA and anti-La/SSB antibodies. Early diagnosis and monitoring in at-risk pregnancies are crucial for fetal outcomes.
Area of Science:
- Cardiology
- Immunology
- Neonatology
Background:
- Congenital heart block (CHB) is a rare condition diagnosed in utero or neonatally.
- It is strongly associated with maternal antibodies anti-Ro/SSA and anti-La/SSB, crossing the placenta.
- These antibodies can cause fetal myocarditis, conduction system disturbances, or apoptosis, impacting fetal survival and long-term health.
Purpose of the Study:
- To summarize the pathophysiology, clinical features, recurrence risks, and management recommendations for congenital heart block.
- To highlight the importance of maternal antibody screening and fetal monitoring in at-risk pregnancies.
Main Methods:
- Review of existing literature on congenital heart block, maternal autoantibodies, and fetal cardiac assessment.
- Analysis of clinical features, diagnostic criteria, and management strategies for CHB.
- Evaluation of recurrence rates and maternal/neonatal outcomes.
Main Results:
- CHB is linked to maternal anti-Ro/SSA and anti-La/SSB antibodies, potentially causing fetal myocarditis or conduction abnormalities.
- Survivors may require pacemakers; transient features include skin lesions, hematologic disorders, and hepatic cholestasis.
- Recurrence risk is 10-17%; most mothers are asymptomatic.
- Prevalence of CHB in newborns of anti-Ro/SSA positive women with connective tissue disease is 2%.
Conclusions:
- Serial echocardiograms and obstetric sonograms are recommended for anti-Ro/SSA positive pregnant women starting at 16 weeks gestation.
- While a standard in-utero therapy for CHB is lacking, vigilant monitoring and early detection are vital.
- Maternal long-term outcomes are generally reassuring, with arthralgias and dry eyes being common symptoms.
Abstract:
Congenital heart block (CHB), defined as an atrioventricular block diagnosed in utero, at birth, or within the neonatal period (0-27 d after birth), is a rare disorder closely linked to transplacental transport of maternal antibodies anti-Ro/SSA and anti-La/SSB. These antibodies may induce a myocarditis, or interact directly with calcium channel proteins with disturbance of transmembrane signaling at the level of the conduction tissue, or interfere with apoptosis. Depending on the severity of the process, the fetus may die in utero or a few days after birth or survive to the perinatal period and have a near-normal life; in most survivors a pace-maker must be implanted. Skin lesions, haematological disorders, and hepatic cholestasis are other transient clinical features of the syndrome. Sinus bradycardia and QT interval prolongation may be observed as well in babies born from anti-Ro/SSA positive mothers. The risk of recurrence of complete block ranges from 10-17%. Most of the mothers are asymptomatic at delivery and are identified only by the birth of an affected child. Their long-term outcome generally is more reassuring than previously assumed and arthralgias and dry eyes are the most common symptoms. A standard therapy for blocks detected in utero still does not exist. The prevalence of complete CHB in newborns of anti-Ro/SSA positive women and with known connective-tissue disease was 2%. Serial echocardiograms and obstetric sonograms, performed at least every 2 wk starting from the 16 wk gestation, are recommended in anti-Ro/SSA positive pregnant women.