Impact of maternal bariatric surgery on offspring perinatal cardiac function: A prospective study.

OBJECTIVE: To assess perinatal cardiac function in offspring of women with previous bariatric surgery and examine its association with maternal glucose control. DESIGN: Prospective study. SETTING: Maternity unit, UK. POPULATION: Fifty-four fetuses/neonates; 29 of post-bariatric surgery women and 25 of women without surgery. METHODS: Prospective, longitudinal observational study of pregnant women with and without previous bariatric surgery, matched for early pregnancy body mass index. Cardiac function of all offspring was assessed by two-dimensional conventional, spectral tissue Doppler and speckle-tracking echocardiography at 35-37 weeks of gestation and at 5-7 weeks of age. Maternal glycated haemoglobin (HbA1c) was measured at 27-30 weeks of gestation. Maternal demographics and fetal/infant cardiac function indices were compared between the groups. Correlation coefficient (r) is reported. MAIN OUTCOME MEASURES: Fetal/infant cardiac function indices. RESULTS: Compared with no-bariatric neonates, offspring of post-bariatric women were smaller at birth (birthweight centiles: 64.96 ± 36.41 versus 40.17 ± 27.99; p = 0.007). There were no significant differences in fetal/infant cardiac function indices and perinatal cardiac changes, between groups. There was a positive correlation between maternal HbA1c and fetal left ventricular (LV) longitudinal strain (r = 0.33) and LV longitudinal strain rate (r = 0.29), suggesting an inverse relation between HbA1c and fetal LV systolic function, but this was mainly seen in offspring of women with no previous bariatric surgery (r = 0.56 and r = 0.50, respectively). CONCLUSIONS: Maternal bariatric surgery does not appear to inadvertently affect the offspring cardiac performance. We found an inverse correlation between maternal HbA1c levels and fetal LV systolic function but this was mainly seen in the no-bariatric pregnancies.

Management of prenatally detected vascular rings: a United Kingdom national survey.

OBJECTIVE: To investigate UK variability in prenatal and postnatal management strategy of right aortic arch and double aortic arch (RAA/DAA). METHODS: Online surveys were sent to senior physicians (consultants) of the National Fetal Cardiology Working Group regarding prenatal diagnosis, counselling, and perinatal management of antenatally diagnosed RAA/DAA and to the British Congenital Cardiovascular Association regarding postnatal management strategies. RESULTS: There were 28 prenatal and 90 postnatal surveys completed. Prenatally, there was consensus for potential associated chromosomal/genetic anomalies, but there was variation in the risk quoted. Confidence in defining aortic arch morphology was reported by 43% (12/28) of fetal cardiologists. There was variation in what was felt to be possible symptoms/signs of a compressive vascular ring, postnatal investigation, postnatal management, follow-up duration of asymptomatic patients, and indications for surgical intervention. CONCLUSION: This study has highlighted important areas for future research: improving accuracy of prenatal diagnosis, clarification of potential symptoms, optimal investigation strategies, and indications for surgery.

Impact of gastrointestinal comorbidities in patients with right and left atrial isomerism.

BACKGROUND AND AIM: Heterotaxy syndrome, being right atrial isomerism (RAI) or left atrial isomerism (LAI), often presents with Congenital Heart Disease (CHD). Intestinal abnormalities, including malrotation are common. We assessed the spectrum of gut abnormalities and their impact on medium-term outcome in a cohort of patients with fetal and postnatal diagnoses of heterotaxy syndrome. METHODS: We reviewed the cardiology records of heterotaxy syndrome patients from two centres, regarding the presence of CHD, time for cardiac intervention, presence of gastrointestinal abnormalities, and type/time of surgery. A questionnaire about gastrointestinal status was sent to patients <18 years old. Kaplan-Meier curves were derived for survival data and freedom from intervention. RESULTS: Data were included for 182 patients (49 RAI and 133 LAI) of 247 identified. Questionnaires were sent to 77 families and 47 replied. CHD was present in all RAI and 61.7% of LAI cases. Thirty-eight patients had abdominal surgery (20.9%), similar for RAI and LAI (20.4% versus 21%, p> 0.99): Ladd procedure in 17 (44.7%), non-Ladd in 12 (31.5%), and both procedures in 9 (23.7%). Ten-year freedom from Ladd procedure for all was 86% for the whole cohort (RAI = 87%; LAI = 85%, p = 0.98). Freedom from any gastrointestinal surgery at 10 years was 79% for the whole cohort (RAI = 77%; LAI = 80%, p = 0.54). Ten-year freedom from cardiac surgery was 31% for the whole cohort (RAI = 6%; LAI = 43%, p < 0.0001). CONCLUSIONS: In our cohort, one in five patients required abdominal surgery, mostly in their first year of life, similar for RAI and LAI. Between 1 and 10 years of follow-up, the impact of gastrointestinal abnormalities on outcome was minimal. Medium term survival was related to CHD.

In-hospital interstage improves interstage survival after the Norwood stage 1 operation.

OBJECTIVES: The interstage mortality rate after a Norwood stage 1 operation remains 12-20% in current series. In-hospital interstage facilitates escalation of care, possibly improving outcome. METHODS: A retrospective study was designed for hypoplastic left heart syndrome (HLHS) and HLHS variants, offering an in-hospital stay after the Norwood operation until the completion of stage 2. Daily and weekly examinations were conducted systematically, including two-dimensional and speckle-tracking echocardiography. Primary end points included aggregate survival until the completion of stage 2 and interstage freedom from escalation of care. Moreover, we calculated the sensitivity and specificity of speckle-tracking echocardiographic myocardial deformation in predicting death/transplant after the Norwood procedure. RESULTS: Between 2015 and 2019, 33 neonates with HLHS (24) or HLHS variants (9) underwent Norwood stage 1 (31) or hybrid palliation followed by a comprehensive stage 2 operation (2). Stage 1 Norwood-Sano was preferred in 18 (54.5%) neonates; the classic Norwood with Blalock-Taussig shunt was performed in 13 (39.4%) neonates. The Norwood stage 1 30-day mortality rate was 6.2%. The in-hospital interstage strategy was implemented after Norwood stage 1 with a 3.4% interstage mortality rate. The aggregate Norwood stage 1 and interstage Kaplan-Meier survival rate was 90.6 ± 5.2%. Escalation of care was necessary for 5 (17.2%) patients at 2.5 ± 1.2 months during the interstage for compromising atrial arrhythmias (2), Sano-shunt stenosis (1) and pneumonia requiring a high-frequency oscillator (2); there were no deaths. A bidirectional Glenn (25) or a comprehensive-Norwood stage 2 (2) was completed in 27 patients at 4.7 ± 1.2 months with a 92.6% survival rate. The overall Kaplan-Meier survival rate is 80.9 ± 7.0% at 4.3 years (mean 25.3 ± 15.7 months). An 8.7% Δ longitudinal strain 30 days after Norwood stage 1 had 100% sensitivity and 81% specificity for death/transplant. CONCLUSIONS: In-hospital interstage facilitates escalation of care, which seems efficacious in reducing interstage Norwood deaths. A significant reduction of longitudinal strain after Norwood stage 1 is a strong predictor of poor outcome.

Screening and Treatment of Intestinal Rotational Abnormalities in Heterotaxy: A Systematic Review and Meta-Analysis.

OBJECTIVE: To assess the role of screening and prophylactic surgery for intestinal rotational abnormalities (IRAs) in asymptomatic patients with heterotaxy. STUDY DESIGN: PubMed, Embase, and Cinahl were searched electronically to determine the overall incidence of IRAs in heterotaxy; the detection rate of IRAs associated with screening; the incidence of midgut volvulus in patients without screening; and the incidence of morbidity and mortality after prophylactic and emergency Ladd procedures. Relevant data were computed with a meta-analysis of proportions. Between-study heterogeneity was assessed with the I(2) statistic. RESULTS: From 276 papers identified, 24 studies with a total of 1433 patients with heterotaxy were included for systematic review. No randomized study was identified. True incidence of IRA in heterotaxy could not be ascertained through meta-analysis. In patients who underwent screening, the incidence of IRA was 58%. Acute midgut volvulus occurred in 5.8% of those who did not undergo screening. Postoperative mortality after Ladd procedure mainly was associated with cardiac insufficiency, and overall it was significantly greater in the emergency group compared with the prophylactic group (18% vs 5.6%). The complication rate also was greater in case of emergency vs prophylactic abdominal surgery (27% vs 16%); adhesional small bowel obstruction was the most common complication overall (6%). CONCLUSION: The screen-detected incidences of IRA and acute midgut volvulus were significantly greater in heterotaxy than the normal population. Prophylactic Ladd procedure was associated with less morbidity and mortality compared with emergency surgery. A long-term prospective randomized trial is needed to define the indication for screening and prophylactic treatment of IRA in heterotaxy.

Variants of the scimitar syndrome.

UNLABELLED: Introduction The scimitar syndrome comprises hypoplastic right pulmonary artery and lung, anomalous right pulmonary venous drainage to the inferior caval vein, aortopulmonary collateral(s) to the right lung, and bronchial anomalies. Aim The aim of this study was to describe the morphological and clinical spectrum of variants from the classical scimitar syndrome in a single institution over 22 years. RESULTS: In total, 10 patients were recognised. The most consistent feature was an aortopulmonary collateral to the affected lung (90%), but there was considerable variation in the site and course of pulmonary venous drainage. This was normal in 3 (one with meandering course), anomalous right to superior caval vein in 1, to the superior caval vein and inferior caval vein in 2, and to the superior caval vein and the left atrium in 1; one patient had a right pulmonary (scimitar) vein occluded at the insertion into the inferior caval vein but connected to the right upper pulmonary vein via a fistula. There were two left-sided variants, one with anomalous left drainage to the coronary sinus and a second to the innominate vein. Among all, three patients had an antenatal diagnosis and seven presented between 11 and 312 months of age; 90% of the patients were symptomatic at first assessment. All the patients underwent cardiac catheterisation; collateral embolisation was performed in 50% of the patients. Surgical repair of the anomalous vein was carried out in two patients, one patient had a right pneumonectomy, and one patient was lost to follow-up. There was no mortality reported in the remainder of patients during the study period. CONCLUSION: The heterogeneity of this small series confirms the consistent occurrence of an anomalous arterial supply to the affected lung but considerable variation in pulmonary venous drainage.

Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation.

BACKGROUND: Inherited arrhythmias may underlie intrauterine and neonatal arrhythmias. Resolving the molecular genetic nature of these rare cases provides significant insight into the role of the affected proteins in arrhythmogenesis and (extra-) cardiac development. OBJECTIVE: The purpose of this study was to perform clinical, molecular, and functional studies of a consanguineous Arabian family with repeated early miscarriages and two intrauterine fetal losses in the early part of the third trimester of pregnancy due to persistent arrhythmias. METHODS: In-depth clinical investigation was performed in two siblings, both of whom developed severe arrhythmia during the second trimester of pregnancy. Homozygosity mapping with microsatellite repeat polymorphic markers encompassing various cardiac ion channel genes linked to electrical instability of the heart was performed. Screening of the candidate gene in the homozygous locus was performed. Biochemical and electrophysiologic analysis was performed to elucidate the function of the mutated gene. RESULTS: Screening of the HERG gene in the homozygous locus detected a homozygous nonsense mutation Q1070X in the HERG C-terminus in affected children. Biochemical and functional analysis of the Q1070X mutant showed that although the mutant HERG had the ability to traffic to the plasma membrane and to form functional channels, it was destroyed by the nonsense-mediated decay (NMD) pathway before its translation. NMD leads to near absence of HERG in homozygous Q1070X mutation carriers, causing debilitating arrhythmias (prior to birth) in homozygous carriers but no apparent phenotype in heterozygous carriers. CONCLUSION: Homozygous HERG Q1070X is equivalent to near functional knockout of HERG. Clinical consequences appear early, originating during the early stages of embryonic life. The NMD pathway renders HERG Q1070X functionless before it can form a functional ion channel.

Origem anômala da artéria coronária esquerda do tronco pulmonar. Perfil clínico r resultados a médio prazo do tratamento cirúrgico / Anomalous origin of the left coronary artery from the pulmonary trunk. Clinical features and midterm results after surgical tratment

Objetivo - Relatar a experiência com a origem anômala da artéria coronária esquerda (OACE) do tronco pulmonar, enfatizando-se dados pré-operatórios, cirúrgicos e os do seguimento a médio prazo. Métodos - Análise retrospectiva em 11 pacientes operados no Royal Brompton Hospital no período de outubro/84 a abril/97. Resultados - Nove lactentes estavam em insuficiência cardíaca (IC) e duas outras crianças apresentavam-se com dispnéia e dor precordial, todos com alterações eletrocardiográficas. O ecocardiograma identificou a origem coronária anômala em 7 (64 por cento) pacientes e o estudo hemodinâmico foi realizado em 7 casos. Todos os lactentes foram operados entre o 2§ e o 10§ mês de vida. Seis pacientes foram submetidos a reimplante da artéria coronária esquerda na aorta, enquanto cinco casos foram operados através da técnica de Takeuchi. Todos os pacientes estão vivos, com evidente melhora eletrocardiográfica e da função ventricular. Reoperação foi necessária em dois pacientes operados pela técnica de Takeuchi devido à estenose supravalvar pulmonar grave. Conclusão - A maioria desses pacientes com ACE apresentam-se precocemente com IC grave associada a alterações eletrocardiográficas. O tratamento cirúrgico deve ser realizado precocemente, de preferência através de implante da coronária anômala na aorta, com grande possibilidade de sucesso. A melhora deve ser esperada a curto prazo após a cirurgia, assim como a normalização da função ventricular esquerda.