Congenital heart block secondary to neonatal lupus

@#Neonatal lupus is a passively acquired autoimmune disease that occurs in children of mothers with anti-Ro/SSA and/or anti-La/SSB antibodies. [1-4] The most serious complication in the neonate is complete heart block. [3-8] This is a case report of a newborn female presenting with persistent bradycardia detected in utero. The diagnosis was confirmed by maternal anti-Ro/SSA and/or anti-La/SSB antibodies and in utero detection of fetal heart block on echocardiogram. Therapeutic management involved placement of a permanent pacemaker.

Permanent pacemaker implantation in complete congenital fetal atrioventricular (AV) block: a case report / Implantación de marcapasos permanente en bloqueo atrioventricular (AV) fetal congénito completo: reporte de caso

Abstract: One of the most common pathologies attributed to lupus neonatal refers to atrioventricular (AV) congenital block, which diagnosis can be made between 16 and 30 weeks of gestation due to persistent fetal bradycardia. The development of this disease is mostly related to maternal anti-Ro/SSA and anti-Smith autoantibodies. Currently, there are a number of alternatives for prenatal and postnatal treatment, with some controversy about their viability. The placement of a permanent pacemaker is presented as one of the most appropriate procedures currently, even with the risks awarded. This case report describes the placement of a permanent pacemaker to a two-month-old newborn with high maternal contents of anti-Ro/SSA and anti-Smith nuclear autoantibodies, with a favorable outcome.(AU)

Resumen: Una de las patologías más comunes atribuidas al lupus neonatal se refiere al bloqueo congénito atrioventricular (AV), diagnóstico que se puede realizar entre 16 y 30 semanas de gestación debido a bradicardia fetal persistente. El desarrollo de esta enfermedad se relaciona principalmente con los anticuerpos anti-Ro/SSA materno y anti-Smith. Actualmente, existen varias alternativas para el tratamiento prenatal y postnatal, con cierta controversia sobre su viabilidad. La colocación de un marcapasos permanente se presenta como uno de los procedimientos más adecuados actualmente, incluso con los riesgos adjudicados. Este relato de caso describe la colocación de un marcapasos permanente en un recién nacido de dos meses con alto contenido materno de autoanticuerpos anti-Ro/SSA y anti-Smith, con un resultado favorable.(AU)

Sjogren's syndrome: An underdiagnosed condition in mixed connective tissue disease

OBJECTIVE: To determine the prevalence of sicca symptoms, dry eye, and secondary Sjögren's syndrome and to evaluate the severity of dry eye in patients with mixed connective tissue disease. METHODS: In total, 44 consecutive patients with mixed connective tissue disease (Kasukawa's criteria) and 41 healthy controls underwent Schirmer's test, a tear film breakup time test, and ocular surface staining to investigate dry eye. In addition, the dry eye severity was graded. Ocular and oral symptoms were assessed using a structured questionnaire. Salivary gland scintigraphy was performed in all patients. Classification of secondary Sjögren's syndrome was assessed according to the American-European Consensus Group criteria. RESULTS: The patients and controls had comparable ages (44.7±12.4 vs. 47.2±12.2 years) and frequencies of female gender (93 vs. 95%) and Caucasian ethnicity (71.4 vs. 85%). Ocular symptoms (47.7 vs. 24.4%) and oral symptoms (52.3 vs. 9.7%) were significantly more frequent in patients than in controls. Fourteen (31.8%) patients fulfilled Sjögren's syndrome criteria, seven of whom (50%) did not have this diagnosis prior to study inclusion. A further comparison of patients with mixed connective tissue disease with or without Sjögren's syndrome revealed that the former presented significantly lower frequencies of polyarthritis and cutaneous involvement than did the patients without Sjögren's syndrome. Moderate to severe dry eye was found in 13 of 14 patients with mixed connective tissue disease and Sjögren's syndrome (92.8%). CONCLUSIONS: Sjögren's syndrome, particularly with moderate to severe dry eye, is frequent in patients with mixed connective tissue disease. These findings alert the physician regarding the importance of the appropriate diagnosis of this syndrome in such patients. .

Rhizomelic Chondrodysplasia Punctata With Maternal Systemic Lupus Erythromatosus.

We report Rhizomelic Chondrodysplasia Punctata (RDCP), a rare, autosomal recessive disorder with rhizomelic shortening of limbs, congenital cataracts and seizures but without any biochemical abnormality. The mother of the baby developed Systemic Lupus Erythromatosus (SLE) with Ro/SSA antibodies 11 months after delivery. Ro/SSA antibodies may generate calreticulin antibodies causing characteristic skeletal changes.

Ultraviolet A induces the apoptosis of epidermal cells in mice injected with anti-Ro/SAA-postive sera / 中华皮肤科杂志

Objective To investigate the susceptibility ofepidermal cells to ultraviolet A(UVA)-induced apoptosis in dopachrome tautomerase knockout Dct~(-/-) mice versus wildtype C57BL/6J mice.Methods High titer of anti-Ro/SSA-positive sera collected from three patients with SLE and typical cutaneous phntosensitivity were intraperitoneally injected into both Dct~(-/-) and wildtype mice,which were then chronically exposed to UVA irradiation at a single dose of 10 J/cm~2 three times a week for two weeks.Then,UVA-irradiated tail skin was excised from each mouse,embedded with paraffin,cut into 4 to 5-μm sections followed by hematoxylin/eosin staining and terminal deoxynucleotidyl transferase nick end labeling(TUNEL),respectively,for the counting of sunburn cells(SBC) and apoptotie cells.Results After chronic UVA exposure,the number of SBC and TUNEL-positive cells per 100 epithelial cells was significantly higher in serum-injected Dct~(-/-) mice than in serum-injected wildtype mice(14±1.0 vs 7±-0.6,62±2.7 vs 30 ±1.6,both P<0.05).A significant decrease was also observed in the number of SBC (6 ±0.9 per 1 00 epithelial cells)and TUNEL-positive cells (42±2.5 per 100 epithelial cells)in uninjected Dct~(-/-) mice compared with those of serum-injcoted Dct~(-/-) mice(both P<0.05).Conclusions The deficiency of Dct gene increases the susceptibility of epidermal cells to UVA-induced apoptosis under the presence of anti-Ro/SSA antibody,which potentially contributes to the develop-ment of anti-Ro/SSA antibody-mediated photosensitivity in SLE.

A Case of Cogan's Syndrome with Antibodies to Ro (SS-A) and La (SS-B) Antigen / 대한류마티스학회지

Cogan's syndrome is a rare chronic inflammatory disease of unknown origin, characterized by nonsyphilitic interstitial keratitis, vestibuloauditory dysfunction and vasculitis. Cogan's syndrome is uncommon and few cases have been published. A case of Cogan's syndrome in a patient with anti-Ro and anti-La positivity is described. A 24-year-old woman visited to department of rheumatology with dry mouth, dry eye, and vertigo on August 2004, and interstitial keratitis had developed on October 2004. She was admitted to the otolaryngology department with rapidly progressive hearing loss on December 2004. The patient's audiogram revealed severe sensorineural deafness. The patient was treated with systemic corticosteroid and methotrexate. This case is the first to report a case of Cogan's syndrome associated with anti-Ro and anti-La positivity.

A Case of Doxifluridine-Induced Ro/SSA-Positive Cutaneous Lupus Erythematosus / 대한피부과학회지

Anti-Ro/SSA antibody positive drug-induced lupus erythematosus is characterized by erythematous papules at the photodistributed area after drug intake, positive anti-Ro/SSA antibody tests and histopathologic features of lupus erythematosus. A 68-year-old man was referred to our clinic with multiple erythematous violacious plaques on the face of 2 months' duration. After surgical removal of stomach cancer, he had been taking doxifluridine for 10 months. A histopathologic study revealed findings consistent with lupus erythematosus and the anti-Ro/SSA antibody was positive on the serologic test. Based on these findings, we diagnosed this case as anti-Ro/SSA antibody positive drug-induced lupus erythematosus, and report it with review of the literature.

Two Cases of Neonatal Lupus Erythematosus / 대한피부과학회지

Neonatal lupus erytematosus is characterized by cutaneous findings showing the morphology of subacute cutaneous lupus erythematosus, congenital heart block, and anti-Ro/SSA and/or anti-La/SSB autoantibodies which result from the transplacental passage of maternal autoantibodies. We report two cases of a 25-day-old female infant and a 30-day-old male infant who presented with characteristic clinical features of cutaneous neonatal lupus erythematosus but without evidence of congenital heart block. The serological studies in both infants revealed the presence of anti-SSA/Ro antibodies and antinuclear antibodies. We diagnosed their mothers as systemic lupus erythematosus with the clinical and laboratory findings.

A case of neonatal lupus syndrome with congenital complete heart block / 대한산부인과학회잡지

The neonatal lupus syndrome is characterized by skin lesions, hepatic and hematologic abnormalities and congenital heart block. Congenital heart block which is believed to be caused by transplacental passage of the anti-Ro (SSA)/La (SSB) antibodies from mother to infant, is known to occur in 1 in 20,000 live births. In contrast to other manifestation of neonatal lupus syndrome, which usually subside within 6 months after birth, congenital heart block is a permanent and potentially fatal complication. We experienced a case of neonatal lupus syndorme with congenital complete heart block in a newborn of asyptomatic mother with anti-Ro (SSA)/ La (SSB) antibodies.

A Case of Neonatal Lupus Syndrome with Acute Myocarditis

Neonatal lupus is a model of passively acquired autoimmunity in which immune abnormalities in the mother lead to production of antibodies that cross the placenta and injure the developing fetus. The serologic markers for the diagnosis of neonatal lupus are auto-antibodies specific to SS-A/Ro and/or SS-B/La. More than 95% of affected infants are anti-SS-A/Ro positive. We experienced a neonatal lupus with acute myocarditis at 2 months of age. The baby was born in gestational age of 36 weeks with a birth weight of 2,350gm by Caesarean section. At birth, chest X-ray showed mild cardiomegaly, but electrocardiography and echocardiography were normal. Laboratory findings for LDH, CPK and CK-MB were increased above the normal range. At 2 months of age, controlled echocardiography showed dilated left ventricle(LV) dimension with decreased fractional shortening and ejection fraction. However, this infant did not show clinical symptoms of congestive heart failure. We followed up on this patient without giving any medical treatment. At 1 year of age, controlled echocardiography showed increased thickness of the posterior wall of LV, but the fractional shortening and ejection fraction returned to normal range.

A Case of Neonatal Lupus Syndrome with Congenital Heart Block

Neonatal lupus erythematous is a rare syndrome, which is characterized by a transient lupus dermatitis, hematologic abnormalities and isolated congenital heart block. We detected the atrioventricular dissociation, bradycardia and pericardial effusion by fetal echocardiography in a female fetus at 25th weeks of gestational age. The baby was born in the 38th week of pregnancy by Cesarean section with 1790 gram of body weight. In spite of atrioventricular dissociation with bradycardia and pericardial effusion, cardiac pacemaker was not needed during neonatal period because she was doing well, no evidence of congestive heart failure and around 80 beat per minute of heart rate. The serologic markers for diagnosis of neonatal lupus are the autoantibodies specific to SS-A/Ro and/or SS-B/La. These antibodies are produced by the mother and passed to the fetus through the placenta. Autoantibodies of cytoplasmic SS-A antigens or SS-B antigen were found in the blood of this patient and her mother. We report a case of neonatal lupus syndrome with congenital atrioventricular dissociation with Rt. Bundle branch block and hematologic abnormality.