Congenital heart block and subsequent connective tissue disorder in adolescence.
A young girl born to a mother with systemic lupus erythematosus (SLE) had congenital heart block and developed symptoms of a connective tissue disorder at the age of 13 y. When first seen at the age of 15 y she was found to have an unclassified connective tissue disorder and to be seropositive for anti Ro/SSA and U1 RNP. This constellation of clinical/serological features has not been described among the reported handful of patients with congenital heart block and subsequent development of a connective tissue disorder.
Hubscher
O
O
Department of Internal Medicine, Centro de Educación Médica e Investigaciones Clínicas (CEMIC), Buenos Aires, Argentina.
Carrillo
D
D
Reichlin
M
M
D000293:Adolescent; D000328:Adult; D000974:Antibodies, Antinuclear / Q000097:blood / Q000276:immunology*; D001324:Autoantigens / Q000276:immunology; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology; D003240:Connective Tissue Diseases / Q000235:genetics* / Q000276:immunology; D005260:Female; D006680:HLA Antigens / Q000032:analysis; D006327:Heart Block / Q000151:congenital* / Q000276:immunology; D006801:Humans; D007112:Immunity, Maternally-Acquired; D008180:Lupus Erythematosus, Systemic / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000276:immunology; D020733:RNA, Small Cytoplasmic; D011928:Raynaud Disease / Q000209:etiology; D017412:Ribonucleoprotein, U1 Small Nuclear / Q000276:immunology; D012261:Ribonucleoproteins / Q000276:immunology; D012594:Scleroderma, Localized / Q000209:etiology; D000099207:SS-A Antigen
D000974:Antibodies, Antinuclear; D001324:Autoantigens; D006680:HLA Antigens; D020733:RNA, Small Cytoplasmic; D017412:Ribonucleoprotein, U1 Small Nuclear; D012261:Ribonucleoproteins; D000099207:SS-A Antigen; C116006:RO60 protein, human