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Autoantibody-associated congenital heart block: the clinical perspective
Jill P Buyon1, Deborah M Friedman
1Department of Rheumatology, Hospital for Joint Diseases, 301 East 17th Avenue, Room 1608, New York, NY 10003, USA. jill.buyon@med.nyu.edu
Insights
Congenital heart block (CHB) is linked to maternal autoimmune conditions and antibodies. This association is crucial for understanding neonatal lupus and its cardiac manifestations.
Area of Science:
- Cardiology
- Immunology
- Pediatrics
Background:
- Congenital heart block (CHB) presents as an isolated defect or with structural heart anomalies, tumors, or maternal conditions.
- Historical observations link CHB to maternal autoimmune diseases, specifically identifying anti-Ro and anti-La antibodies.
Purpose of the Study:
- To explore the association between congenital heart block and maternal autoimmune diseases.
- To elucidate the role of anti-Ro/La antibodies in fetal cardiac development and neonatal lupus.
Main Methods:
- Review of historical clinical observations and case reports.
- Serological analysis of maternal and fetal circulation for autoantibodies.
- Clinical correlation of cardiac findings with maternal autoimmune status.
Main Results:
- CHB is frequently associated with maternal anti-Ro/La antibodies.
- These antibodies are implicated in the pathogenesis of neonatal lupus syndromes, affecting multiple fetal organ systems.
- Neonatal lupus presents with characteristic cutaneous, hepatic, and hematologic abnormalities.
Conclusions:
- Maternal autoimmune diseases, particularly those with anti-Ro/La antibodies, are a significant risk factor for CHB.
- Neonatal lupus is a multisystem disorder with cardiac manifestations, including CHB.
- Early identification of maternal autoantibodies is vital for managing and monitoring affected neonates.
Abstract:
Congenital heart block (CHB) can occur in association with structural heart disease, such as atrioventricular septal defects, left atrial isomerism, and abnormalities of the great arteries, with tumors, such as mesotheliomas, or as an isolated defect. In 1928, Aylward reported the occurrence of CHB in two children whose mother "suffered from Mikulicz's disease." This curious clinical observation was further solidified by the 1970s, with reports of CHB in children whose mothers had autoimmune diseases and that the maternal sera contained antibodies to Ro ribonucleoproteins. It was subsequently reported that many mothers also had antibodies to La. Other abnormalities affecting the skin, liver, and blood elements were associated with anti-Ro/La antibodies in the maternal and fetal circulation, and are now grouped under the heading of neonatal lupus syndromes. Neonatal lupus was termed because the cutaneous lesions of the neonate resembled those seen in systemic lupus erythematosus.