Neonatal lupus: Advances in understanding pathogenesis and identifying treatments of cardiac disease

Current Opinion in Rheumatology

Volumn 24, Issue 5, 2012, Pages 466-472

  Izmirly, Peter M ^a   Buyon, Jill P ^a   Saxena, Amit ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FLUORINATED STEROID; HLA A1 ANTIGEN; HLA B8 ANTIGEN; HLA DR3 ANTIGEN; IMMUNOGLOBULIN; INTERLEUKIN 8; TOLL LIKE RECEPTOR; TRANSFORMING GROWTH FACTOR BETA; TUMOR NECROSIS FACTOR ALPHA; VITAMIN D;

APOPTOSIS; ATRIOVENTRICULAR BLOCK; CONGESTIVE CARDIOMYOPATHY; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; ENDOCARDIAL FIBROELASTOSIS; ENVIRONMENTAL FACTOR; FATALITY; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; HAPLOTYPE; HEART BLOCK; HEART DISEASE; HEART INJURY; HEART MUSCLE CELL; HEART TRANSPLANTATION; HUMAN; LUPUS ERYTHEMATOSUS; MAJOR HISTOCOMPATIBILITY COMPLEX; MATERNAL AGE; MISSENSE MUTATION; MORBIDITY; MORTALITY; NEONATAL LUPUS; NEWBORN DISEASE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SINUS BRADYCARDIA;

ANIMALS; CARDIOMYOPATHIES; DISEASE MODELS, ANIMAL; GENOME-WIDE ASSOCIATION STUDY; HEART BLOCK; HEART DISEASES; HUMANS; INFANT, NEWBORN; LUPUS ERYTHEMATOSUS, SYSTEMIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RIBONUCLEOPROTEINS;

EID: 84864886916     PISSN: 10408711     EISSN: 15316963     Source Type: Journal    
DOI: 10.1097/BOR.0b013e328356226b     Document Type: Review

References (40)

1. Buyon J. Neonatal lupus. In: Lahita RG, Tsokos G, Buyon JP, Koike T, editors. Systemic Lupus Erythematosus. 5th ed. San Diego: Academic Press; 2011. p. 541.
2. Ambrosi A, Dzikaite V, Park J, et al. Anti-Ro52 monoclonal antibodies specific for amino acid 200-239, but not other Ro52 epitopes, induce congenital heart block in a rat model. Ann Rheum Dis 2012; 71:448-454.
3. Mazel JA, El-Sherif N, Buyon J, Boutjdir M. Electrocardiographic abnormalities in a murine model injected with IgG from mothers of children with congenital heart block. Circulation 1999; 99:1914-1918.
4. Jaeggi ET, Silverman ED, Laskin C, et al. Prolongation of the atrioventricular conduction in fetuses exposed to maternal anti-Ro/SSA and anti-La/SSB antibodies did not predict progressive heart block: a prospective observational study on the effects of maternal antibodies on 165 fetuses. J Am Coll Cardiol 2011; 57:1487-1492.
5. Karnabi E, Boutjdir M. Role of calcium channels in congenital heart block. Scand J Immunol 2010; 72:226-234.
6. Clancy RM, Alvarez D, Komissarova E, et al. Ro60-associated single-stranded RNA links inflammation with fetal cardiac fibrosis via ligation of TLRs: a novel pathway to autoimmune-associated heart block. J Immunol 2010; 184:2148-2155.
7. Karnabi E, Qu Y, Mancarella S, Boutjdir M. (Rescue and worsening of congenital heart block-associated electrocardiographic abnormalities in two transgenic mice. J Cardiovasc Electrophysiol 2011; 22:922-930.
8. Reed JH, Clancy RM, Purcell AW, et al. B2-glycoprotein 1 and protection from anti-SSA/Ro60-associated cardiac manifestations of neonatal lupus. J Immunol 2011; 187:520-526.
9. Clancy RM, Kapur RP, Molad Y, et al. Immunohistologic evidence supports apoptosis, IgG deposition and novel macrophage/fibroblast crosstalk in the pathologic cascade leading to congenital heart block. Arthritis Rheum 2004; 50:173-182.
10. Briassouli P, Komissarova EV, Clancy RM, Buyon JP. Role of the urokinase plasminogen activator receptor in mediating impaired efferocytosis of anti-SSA/Ro-bound apoptotic cardiocytes: implications in the pathogenesis of congenital heart block. Circ Res 2010; 107:374-387.
11. Briassouli P, Rifkin D, Clancy RM, Buyon JP. Binding of anti-SSA antibodies to apoptotic fetal cardiocytes stimulates urokinase plasminogen activator (uPA)/uPA receptor-dependent activation of TGF-and potentiates fibrosis. J Immunol 2011; 187:5392-5401.
12. Alvarez D, Briassouli P, Clancy RM, et al. A novel role of endothelin-1 in linking Toll-like receptor 7-mediated inflammation to fibrosis in congenital heart block. J Biol Chem 2011; 286:3044-3054.
13. Hamilton R, Harley J, Bias WB, et al. Two Ro (SS-A) autoantibody responses in systemic lupus erythematosus. Correlation of HLA-DR/DQ specificities with quantitative expression of Ro (SS-A) autoantibody. Arthritis Rheum 1988; 31:496-505.
14. Harley JB, Reichlin M, Arnett FC, et al. Gene interaction at HLA-DQ enhances autoantibody production in primary Sjogren's syndrome. Science 1986; 232:1145-1147.
15. Scofield RH, Frank MB, Neas BR, et al. Cooperative association of T cell beta receptor and HLA-DQ alleles in production of anti-Ro in systemic lupus erythematosus. Clin Immunol Immunopathol 1994; 72:335-341.
16. Graham RR, Ortmann W, Rodine P, et al. Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE. Eur J Hum Genet 2007; 15:823-830.
17. Strandberg LS, Ambrosi A, Jagodic M, et al. Maternal MHC regulates generation of pathogenic antibodies and fetal MHC-encoded genes determine susceptibility in congenital heart block. J Immunol 2010; 185:3574-3582.
18. Clancy RM, Marion MC, Kaufman KM, et al. Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. Arthritis Rheum 2010; 62:3415-3424.
19. Clancy RM, Backer CB, Yin X, et al. Cytokine polymorphisms and histologic expression in autopsy studies: contribution of TNF-alpha and TGF-beta 1 to the pathogenesis of autoimmune-associated congenital heart block. J Immunol 2003; 171:3253-3261.
20. Saxena A, McDonnell E, Ramos PS, et al. Preferential transmission of genetic risk variants of candidate loci at 6p21 from asymptomatic grandparents to mothers of children with neonatal lupus. Arthritis Rheum 2012; 64:931-939.
21. Izmirly PM, Saxena A, Kim MY, et al. Maternal and fetal factors associated with mortality and morbidity in a multiracial/ethnic registry of anti-SSA/Ro associated cardiac neonatal lupus. Circulation 2011; 124:1927-1935.
22. Eliasson H, Sonesson SE, Sharland G, et al. Fetal Working Group of the European Association of Pediatric Cardiology. Isolated atrioventricular block in the fetus: a retrospective, multinational, multicenter study of 175 patients. Circulation 2011; 124:1919-1926.
23. Jaeggi ET, Hornberger LK, Smallhorn JF, Fouron JC. Prenatal diagnosis of complete atrioventricular block associated with structural heart disease: combined experience of two tertiary care centers and review of the literature. Ultrasound Obstet Gynecol 2005; 26:16-21.
24. Waltuck J, Buyon J. Autoantibody associated congenital heart block: outcome in mothers and children. Annals Int Med 1994; 120:544-551.
25. Buyon JP, Hiebert R, Copel J, et al. Autoimmune-associated congenital heart block: mortality, morbidity, and recurrence rates obtained from a national neonatal lupus registry. J Am CollCardiol 1998; 31:1658-1666.
26. Villain E, Coastedoat-Chalumeau N, Marijon E, et al. Presentation and prognosis of complete atrioventricular block in childhood, according to maternal antibody status. J Am Coll Cardiol 2006; 48:1682-1687.
27. Jaeggi ET, Hamilton RM, Silverman ED, et al. Outcome of children with fetal, neonatal or childhood diagnosis of isolated congenital atrioventricular block: a single institution's experience of 30 years. J Am Coll Cardiol 2002; 39:130-137.
28. Lopes LM, Tavares GM, Damiano AP, et al. Perinatal outcome of fetal atrioventricular block: one-hundred-sixteen cases from a single institution. Circulation 2008; 118:1268-1275.
29. Jaeggi ET, Fouron JC, Silverman ED, et al. Transplacental fetal treatment improves the outcome of prenatally diagnosed complete atrioventricular block without structural heart disease. Circulation 2004; 110:1542-1548.
30. Friedman DM, Llanos C, Izmirly PM, et al. Evaluation of Fetuses in the Preventive IVIG Therapy for Congenital Heart Block (PITCH) study. Arthritis Rheum 2010; 62:1138-1146.
31. Pisoni CN, Brucato A, Ruffatti A, et al. Failure of intravenous immunoglobulin to prevent congenital heart block: findings of a multicenter, prospective, observational study. Arthritis Rheum 2010; 62:1147-1152.
32. Trucco SM, Jaeggi E, Cuneo B, et al. Use of intravenous gamma globulin and corticosteroids in the treatment of maternal autoantibody-mediated cardiomyopathy. J Am Coll Cardiol 2011; 57:715-723.
33. Ruffatti A, Milanesi O, Chiandetti L, et al. A combination therapy to treat second-degree anti-Ro/La-related congenital heart block: a strategy to avoid stable third-degree heart block? Lupus 2011; 21:666-671.
34. Moak JP, Barron KS, Hougen TJ, et al. Congenital heart block: development of late-onset cardiomyopathy, a previously underappreciated sequela. J Am Coll Cardiol 2001; 37:238-242.
35. Nield LE, Silverman ED, Taylor GP, et al. Maternal anti-Ro and anti-La antibody-associated endocardial fibroelastosis. Circulation 2002; 105:843-848.
36. Nield LE, Silverman ED, Smallhorn JF, et al. Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block. J Am CollCardiol 2002; 40:796-802.
37. Guettrot-Imbert G, Cohen L, Fermont L, et al. A new presentation of neonatal lupus: 5 cases of isolated mild endocardial fibroelastosis associated with maternal Anti-SSA/Ro and Anti-SSB/La antibodies. J Rheumatol 2011; 38:378-386.
38. Izmirly PM, Kim MY, Llanos C, et al. Evaluation of the risk of anti-SSA/Ro-SSB/La antibody associated cardiac manifestations of neonatal lupus in fetuses of SLE mothers exposed to hydroxychloroquine. Ann Rheum Dis 2010; 69:1827-1830.
39. Lafyatis R, York R, Marshak-Rothstein A. Antimalarial agents: closing the gate on toll-like receptors? Arthritis Rheum 2006; 54:3068-3070.
40. Ambrosi A, Salomonsson S, Eliasson H, et al. Development of heart block in children of SSA/SSB-autoantibody-positive women is associated with maternal age and displays a season-of-birth pattern. Ann Rheum Dis 2012; 71:334-340.