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Fetuses affected by congenital heart defects (CHD) are considered to be at increased risk of fetal growth restriction and intrauterine demise. Whether these risks are a direct consequence of fetal CHD or a result of associated uteroplacental dysfunction is not evident from the data of recent studies. The aim of this study was to investigate the prevalence of uteroplacental dysfunction reflected by abnormal uterine artery Doppler indices and reduced fetal growth in CHD pregnancies. This is a retrospective case-control study including singleton pregnancies referred for detailed fetal cardiac assessment subsequently diagnosed with or without CHD. Mid-trimester uterine artery Doppler assessment at 20-24 weeks as well as third trimester fetal biometry and arterial Doppler pulsatility indices (PI) were performed. All fetal biometry were converted into centiles and Doppler values to multiples of median (MoM) to adjust for physiological changes with gestation. The study included 811 pregnancies including 153 cases where the fetus was diagnosed with CHD. Mid-pregnancy uterine artery PI was significantly higher in women with fetal CHD compared to controls (0.90MoM vs 0.83MoM; p = 0.006). In the third trimester, median centiles for fetal head circumference (45.4 vs 57.07; p<0.001), abdominal circumference (51.17 vs 55.71; p = 0.014), estimated fetal weight (33.6 vs 56.7; p<0.001) and cerebroplacental ratio (CPR: 0.84MoM vs 0.95MoM; p<0.001) were significantly lower in fetuses with CHD compared to controls. The percentage of small for gestational age births <10th centile (24.0% vs 10.7%; <0.001) and low CPR <0.6MoM (11.7% vs 2.5%; p<0.001) were significantly higher in the fetal CHD cohort. Mid-pregnancy uterine artery resistance is increased and subsequent fetal biometry reduced in pregnancies with CHD fetuses. These findings suggest that fetal CHD are associated with uteroplacental dysfunction, secondary to impaired maternal uteroplacental perfusion resulting in relative fetal hypoxaemia and reduced fetal growth.

Scimitar syndrome is a rare congenital cardiopulmonary anomaly with marked anatomical and clinical heterogeneity, and long-term outcome data remain limited. We reviewed our single-center experience over a 33-year period. Patients evaluated between 1992 and 2025 were retrospectively analyzed. A total of 104 patients were included, with female predominance (63, 60.6%). The median age at first presentation was 0.4 years (IQR 0.0–16.7; range 1 day–68 years) with 59 patients (56.7%) presenting during infancy. At last follow-up, the median age was 18.5 years (IQR 8.7–30.6; range 60 days–70 years), with a median follow-up duration of 9.5 years (IQR 3.7–16.1). Dextrocardia was observed in 76 patients (73.1%). The most common associated defect was atrial septal defect (37 patients, 35.6%), while 23 patients (22.1%) had no additional cardiac defects. Respiratory manifestations predominated at presentation and follow-up. However, 18 patients (17.3%) were asymptomatic at diagnosis and 44 (42.3%) at follow-up. Partial anomalous pulmonary venous drainage was present in 87 patients (83.6%), and aorto-pulmonary collaterals in 70 (67.3%). Cardiac catheterization was performed in 78 patients (75.0%), and 47 (45.2%) underwent surgery. At last documented follow-up, 101 of 104 patients (97.1%) were alive, with three deaths occurring during follow-up.

Examples include left-sided obstructive lesions such as coarctation of the aorta and standard risk HLHS, right-sided lesions such as pulmonary atresia with or without a ventricular septal defect but also complex CHD (eg, atrial isomerism, double inlet ventricle and tricuspid atresia) associated with critical obstruction to pulmonary or systemic flow. [...]site of delivery requires a hospital where this level of neonatal care can be provided safely, including facilities for mechanical ventilation. Isolated or not, pulmonary venous obstruction can be supracardiac or infracardiac and while the obstruction may be reasonably well tolerated prenatally, the neonate is expected to develop pulmonary oedema soon after changes in the perinatal circulation, which can be aggravated by postnatal closure of the ductus venosus in the infradiaphragmatic type. [...]to optimise neonatal outcome, delivery should also take place at close proximity to a surgical centre, as urgent cardiac surgery is required.

Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype–phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus totalis. Patients with biallelic mutations in a subset of nine PCD genes had normal situs. Patients with consanguineous parents had higher odds of situs abnormalities than patients with non-consanguineous parents. Patients with abnormal situs had higher odds of CHD and/or laterality defects.

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.

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.

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. 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. 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.

Table 1 Repaired tetralogy of Fallot and significant pulmonary regurgitation*: indications for pulmonary valve replacement Compelling Subjective [arrow down] in exercise ability Sustained objective [arrow down] in exercise capacity Symptomatic VT/syncope Sustained VT on 24 hour ECG monitoring Serial RV dilatation/[arrow down] in RV ejection fraction Increasing RV end-systolic volume Onset tricuspid regurgitation with RV dilatation or atrial arrhythmias Strong QRS >180 ms or serial increase in QRS duration Surgery indicated for other reason (for example, residual VSD) Pregnancy contemplated Debatable RV volume >170 ml/m2 150 ml/m2 Patient preference *Pulmonary regurgitation fraction >30%. [...]as many patients with repaired tetralogy of Fallot enter middle or old age, the need for continued surveillance and informed cardiac care is self-apparent.

Objective:To evaluate the clinical application of simultaneous recordings of pulsed wave Doppler (PWD) signals in pulmonary artery and vein as alternative sampling site for assessment of arrhythmias in the fetus.Design:Prospective, cross-sectional study.Setting:Tertiary referral centre for fetal cardiology.Patients and methods:From July 1999 to July 2005 PWD was used in pulmonary vessels to assess fetal arrhythmias at 15–40 weeks’ gestation. Sample volume placement in the peripheral lung vessels was guided by colour flow mapping on a four-chamber section of the fetal heart. Atrial and ventricular systoles were identified from the pulmonary venous and arterial signals respectively. M-mode recordings were used for comparison.Outcome measures:Diagnosis of fetal arrhythmias.Results:Of 129 cases, 15 had supraventricular tachycardia, 12 with 1:1 atrioventricular conduction and 3 with atrial flutter and 2:1 block. There were 96 cases of atrial and 7 of ventricular premature beats, 2 of sinus bradycardia, 8 of variable degree heart block and 1 of ventricular tachycardia. PWD was diagnostic in 119 cases. PWD was better than M mode for diagnosis of premature beats and added information about mechanisms of tachycardia. Both methods facilitated interpretation of all arrhythmia patterns, although PWD was of less practical value in cases of complete heart block.Conclusion:Simultaneous PWD recording of pulmonary vessels in the fetus allows accurate diagnosis of arrhythmias. It is easily obtained with standard ultrasound equipment and adds to the armamentarium of diagnostic techniques for assessment of rhythm abnormalities prenatally.