title: Passively acquired anti-SSA/Ro antibodies are required for congenital heart block following ovodonation but maternal genes are not.
abstract: Anti-SSA/Ro antibodies are necessary but not sufficient to provoke autoimmune-associated congenital heart block (CHB). Genetic factors are likely contributory. Accordingly, HLA-related candidates and single-nucleotide polymorphisms in the promoter region of tumor necrosis factor α and codon 10 in transforming growth factor β1 (TGFβ1) were evaluated in a unique family: the surrogate mother (anti-SSA/Ro positive), the biologic father, and the CHB-affected child (product of ovodonation). There was an HLA mismatch between the affected child and the surrogate mother. However, both the biologic and the surrogate mothers shared DQ2 and the profibrosing leucine polymorphism at codon 10 of TGFβ. In conclusion, we observed that CHB can develop in a genetically unrelated child exposed in utero to anti-SSA/Ro antibodies. Testing for anti-SSA/Ro antibodies might be considered in women undergoing artificial fertilization. It is possible that there is no direct association of maternal genes beyond a contributory role in generating the autoantibody.
authors.affiliation: Ospedali Riuniti, Bergamo, Italy. albrucato@ospedaliriuniti.bergamo.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Brucato
authors.forename: Véronique
authors.initials: V
authors.lastname: Ramoni
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.forename: Elena
authors.initials: E
authors.lastname: Sala
authors.forename: Jill
authors.initials: J
authors.lastname: Buyon
authors.forename: Robert
authors.initials: R
authors.lastname: Clancy
mesh_terms: D000974:Antibodies, Antinuclear; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology*; D002311:Cardiomyopathy, Dilated / Q000209:etiology; D004624:Embryo Transfer; D005260:Female; D006327:Heart Block / Q000150:complications / Q000151:congenital* / Q000276:immunology*; D006801:Humans; D007116:Immunization, Passive / Q000009:adverse effects*; D007231:Infant, Newborn; D008297:Male; D018587:Oocyte Donation; D011247:Pregnancy; D013533:Gestational Carriers
chemical_list: D000974:Antibodies, Antinuclear; C035356:SS-A antibodies