Long-Term Outcome of Mothers of Children with Complete Congenital Heart Block Joseph Press, MD, Yosef Uziel, MD, Ronald M. Laxer, MD, Lily Luy, BScN, Robert M. Hamilton, MD, Earl D. Silverman, MD, Toronto, Canada OEUECTIVES:TO determine the health of mothers of offspring with complete congenital heart block (CHB) both at the time of delivery of the affected child and in the long-term, and the percentage of mothers of children with CHB who had anti- SSA/Ro and/or SSB/La antibodies. PATIENTS AND METHODS: Sixty-four mothers of 64 children with CHB (seen between 1964 and 1993) were identified through the Cardiology database of The Hospital for Sick Children, Toronto, Canada. Medical information from these of children with CHB was evaluated. Data were obtained from the mothers by mailed question- naire, telephone interview, and/or from the attending physicians. The presence of anti-R0 antibodies and anti-La antibodies were evaluated by ELISA assay. RESULTS: The mean age at the time of delivery of the first child with CHB was 28 k 6 years. At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had systemic lupus erythematosus (SLE), 2 (3%) had linear scleroderma, 2 (3%) had rheuma- toid arthritis; 3 (5%) had a history of rheumatic fever (but were otherwise well), 1 (2%) had Sjij- gren’s syndrome (SS), and 12 (19%) had an undif- ferentiated autoimmune syndrome (UAS) (arthral- gia, myalgia, photosensitivity, skin vasculitis, Ray- naud’s phenomenon). The mean time to follow-up from delivery to study was 121 2 88 months. The mean maternal age at study was 38 + 9 years. Three of 12 mothers who initially had a UAS pro- gressed to SLE (average follow-up time of 80 months, median 96), and 2 developed SS (with av- erage follow-up time 140 months, median 132) and 1 went into remission. The mean follow-up time for the other mothers who did not develop an From the Divisions of Rheumatology (JP, YU, RML, LL, EDS) and Cardiology (RMHJ, and the Departments of Pediatrics (JP, YU, RML, LL, RMH, ED.% Immunology (ED.%. Medicine (RML), and Nursing (LL), The Hospital for Srck Children, Unrversity of Toronto, Toronto, Canada. This work was suoootied bv grants to Drs. Silverman, Laxer, and Hamilton from Med&al Research Council of Canada and The Atthntrs Society of Canada. Dr. Uziel’s fellowship was supported by the Abraham Shore Fellowship. Requests for reprints should be addressed to Earl D. SlIverman, MD, FRCPC. D&ion of Rheumatoloov. The Hosortal for Sick Chtldren. 555 Universi@ Avenue, Toronto, On&to, Canada M5G 1X8. Manuscript submitted April 6, 1995 and accepted in revrsed form October 13, 1995. autoimmune disease was 150 -c 102 months. Thirty-six of the 42 initially healthy mothers re- mained well. One mother developed SLE; 1 developed hypetiyroidism; 1 developed anky- losing spondylitis; and 3 developed an UAS. The mean follow-up time of the 36 mothers who remained healthy was similar (123 f 97 months) to the 6 initially healthy mothers who developed an autoimmune disease (121 f 36 months). Anti-R0 and/or anti-La antibodies were positive in 32 of 53 (60%) mothers tested. Fourteen of the 53 mothers were symptomatic at the 1:imeof delivery and 39 were asymptomatic. Anti-R0 and/or anti-La antibodies were positive in 12 of 13 mothers tested at the time of delivery. CoNcLusIoNs: The long-term maternal outcome in our cohort was very good as most of the initially healthy mothers remained well at follow-up. Twenty-five percent of the mothers with a UAS and only 2% of the initially healthy mothers, developed SLE. The development of an autoimmune disease in an asymptomatic mother identified by the birth of a child with CHB was less common in our study than in previous studies. However, close follow-up of mothers with UAS is warranted. C omplete congenital heart block (CHB) is an ir- reversible, intra-uterine acquired manifestation of the neonatal lupus erythematosus (NLE) syn- drome. It is likely caused by the transplacental pas- sage of maternal antibodies to SSA/Ro and SSB/La I+ bonucleoproteins.lmGThese maternal autoantibodies may also be associated with dermatitis, hepatitis, and thrombocytopenia as part of NLE.7-g The closest as- sociation of CHB has been with antidd-kd Ro and anti-La antibodies.“~3~10~11 Isolated CHB occurs in approximately 1 in 15,000 t.o 22,000 live births and most of cases of isolated CHB are associated with the transplacental passageof ma- ternal autoantibodies. It has been stated that one third to two thirds of children born witih heart block have mothers who either have, or will subsequently de- velop, a connective tissue disease (CTD), most com- monly systemic lupus erythematosus (SLE) or Sjogren’s Syndrome (SS).l&l9 However, :most of these studies have reported on small patient numbers, or have been suffered from a strong referral bias.‘~lo~‘o~” There have been only two studies from a single med- 326 March 1996 The American Journal of Medicine@ Volume 100