Joanna Tingström

Development of heart block in children of SSA/SSB-autoantibody-positive women is associated with maternal age and displays a season-of-birth pattern

Objective Congenital heart block may develop in the fetuses of Ro/SSA-positive and La/SSB-positive mothers. Recurrence rates of only 10–20% despite persisting maternal antibodies indicate that additional factors are critical for the establishment of heart block. The authors investigated the influence of other maternal and fetal factors on heart block development in a Swedish population-based cohort. Methods The influence of fetal gender, maternal age, parity and time of birth on heart block development was analysed in 145 families, including Ro/La-positive (n=190) and Ro/La-negative (n=165) pregnancies. Results There was a recurrence rate of 12.1% in Ro/La-positive women, and no recurrence in Ro/La-negative women. Fetal gender and parity did not influence the development of heart block in either group. Maternal age in Ro/La-positive pregnancies with a child affected by heart block was, however, significantly higher than in pregnancies resulting in babies without heart block (p<0.05).Seasonal timing of pregnancy influenced the outcome. Gestational susceptibility weeks 18–24 occurring during January–March correlated with a higher proportion of children with heart block and lower vitamin D levels during the same period in a representative sample of Swedish women and a corresponding higher proportion of children with heart block born in the summer (p<0.02). Maternal age or seasonal timing of pregnancy did not affect the outcome in Ro/La-negative pregnancies. Conclusion This study identifies maternal age and seasonal timing of pregnancy as novel risk factors for heart block development in children of Ro/La-positive women. These observations may be useful for counselling when pregnancy is considered.

Neurodevelopment in children with and without congenital heart block born to anti‐Ro/SSA‐positive mothers

To define factors influencing neurodevelopment in children with and without complete congenital heart block (CHB) born to mothers with Ro/SSA autoantibodies.

Late development of complete atrioventricular block may be immune mediated and congenital in origin

To investigate the correlation between maternal autoantibodies and age at diagnosis of isolated complete atrioventricular (AV) block (CAVB) and to study signs of late progression of foetal immune‐mediated insults in cases of postnatally diagnosed CAVB.

Long-term growth of children with autoantibody-mediated congenital heart block.

To analyse growth of children with and without congenital heart block (CHB) born to anti‐Ro/SSA positive mothers from birth to 18 years of age, using a population‐based cohort of Swedish CHB patients.

The experiences of pregnancy in women with SSA/Ro52 autoantibodies

OBJECTIVE  Congenital heart block may develop in the foetus during pregnancy in SSA/Ro52 autoantibody-positive women. The aim of this study was to investigate how women with SSA/Ro52 autoantibodies experience their pregnancy in terms of the risk of developing foetal heart block, and in undergoing serial ultrasound Doppler echocardiography to detect early signs of congenital heart block. METHODS  Data were collected through individual semi-structured interviews with SSA/Ro52-positive women post-pregnancy (n = 14). The interviews were audio-taped, transcribed verbatim and analysed according to qualitative content analysis. RESULTS  Three categories emerged from the responses: information, emotional response and support. The information received prior to and during early pregnancy was focused on the need for attending a specialized antenatal clinic, and information on the risk for congenital heart block was scarce or missing. During gestational weeks 18-24, when the ultrasound/Doppler examinations were performed, all women described increased stress. However, the interaction with the caregivers made the women feel more safe and secure. Several women also said that they did not emotionally acknowledge the pregnancy until after gestational week 24. None had been offered psychological support. CONCLUSION  There is a need for structured information and organized programmes for the surveillance of women who are SSA/Ro52 positive during their pregnancy. Further, offering psychological support to the women and their families to manage the stress and to facilitate the early attachment to the child should be considered.

Ro/SSA autoantibody-positive pregnancy: reactions to serial fetal Doppler echocardiographic surveillance

Objective The risk for congenital heart block (CHB) associated with maternal Ro/SSA autoantibodies is low, but the possibility of treating early stages of disease has seen the introduction of Doppler echocardiographic surveillance programs with serial examinations during the CHB susceptibility weeks of pregnancy. The aim of the present study was to understand how Ro/SSA autoantibody-positive women having undergone Doppler echocardiographic surveillance programs and giving birth to children without CHB experienced their pregnancy and frequent ultrasound examinations. Methods A validated questionnaire based on data from an interview-study was distributed to Ro/SSA-positive women supervised with Doppler examinations during their pregnancy (n = 100). Results The response rate was 79%. The majority of the women (61%) reported that the increased number of ultrasound examinations influenced their pregnancy, but in a positive way, with qualified information and additional support from health care personnel in conjunction with the examinations. Further, the visits to the clinic provided opportunities to see the ultrasound picture of the expected infant. However, one-third of the women also reported stress in relation to the examinations. Conclusions Fetal echocardiographic surveillance holds many and predominantly positive effects for Ro/SSA-positive women during pregnancy in addition to the medical advantages.

Anti-Ro/SSA autoantibody-positive women's experience of information given on the risk of congenital heart block.

Objective Congenital heart block (CHB) may develop in fetuses of women with anti-Ro/SSA autoantibodies, and carries substantial morbidity and mortality. The aim was to evaluate how information on CHB is imparted and identify areas of improvement. Methods A questionnaire was distributed to anti-Ro/SSA antibody-positive women who had either participated in a surveillance programme but whose expected child did not develop CHB (n = 100, denoted Doppler-Assessed Pregnancies (DAP) group) or given birth to a child with CHB (n = 88, denoted CHB-Affected Pregnancies (CAP) group). Results The response rate was 83% (157/188). Most women received the information on CHB when they were already pregnant (DAP group 60%, CAP group 83%). However, a majority of them would have wanted the information before pregnancy (DAP group 52%, CAP group 56%), and most stated that it would not have influenced their decision to have a child (DAP group 77%, CAP group 58%). The ability to both understand the information and to perceive the information as sufficient were significantly higher when someone trained in paediatric cardiology gave the information. Conclusions Our findings indicate that information on CHB should be given to women before pregnancy. The data further highlight the importance of having specific knowledge for giving relevant and understandable, yet sufficient information.

Neuropsychiatric development and health in children with and without congenital heart block born to mothers with Ro/SSA autoantibodies – a retrospective follow-up

Background and objectives Women with Ro/SSA autoantibodies have an increased risk of having a child with neonatal lupus erythematosus (NLE) which includes manifestations such as congenital heart block (CHB). Some studies indicate that the CNS may be affected in children with NLE, and other studies have shown that children of women with SLE have an increased risk for learning disabilities. However, it still seems uncertain whether exposure to Ro/SSA autoantibodies during fetal development may impair neuropsychiatric development in children with and without CHB. The authors therefore investigated neuropsychiatric development in children with and without CHB born to mothers with Ro/SSA autoantibodies. Patients and methods Individuals were selected from a population-based cohort of CHB patients if fulfilling the criteria of having a mother with Ro/SSA autoantibodies and being born between 1980 and 2010. Medical records for siblings with and without CHB were retrieved from children primary healthcare centers and school health services and data on skin manifestations, and neuropsychiatric development (including locomotor skills, hearing, speech, attention, learning, behavior, anxiety and depression) was extracted. Records from 109 individuals, 58 with CHB and 51 of their siblings without CHB were collected. A questionnaire was sent to the mothers to gather information on maternal diagnosis and treatment during pregnancy. Results The median time of follow-up was 12.7 years (25th–75th percentile: 8.1–17.5 years). Neuropsychiatric symptoms or disease were reported in 22 (20%) of the 109 children, 15 of which had CHB and 7 without CHB. Among the mothers of these 22 children, only one was steroid-treated during pregnancy. The most commonly reported problems were speech, locomotor, learning and hearing impairment, reported in 9%, 7%, 7% and 7% of all children. Two categories observed reached a statistical difference between the groups, attention deficit; 10% in the CHB group and 0% in siblings (p<0.02) and learning impairment; 12% in the CHB group and 2% in siblings (p<0.05). Among the nine mothers of children with attention deficit and/or learning impairment, seven mothers (78%) were diagnosed with SLE (p<0.01). None of the siblings had any reported neuropsychiatric diagnosis, whereas 4 children with CHB had a reported neuropsychiatric diagnosis. One female had dyslexia, one male had autism and two males had ADHD. Conclusions Our data suggest that impairment in neuropsychiatric development in terms of attention deficit and learning impairment is more frequent in children with CHB than in their siblings. However, this risk appears predominantly confined to children of mothers with SLE.