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Objectives: Hemodynamic abnormalities and brain development disorders have been reported previously in fetuses and infants with transposition of the great arteries and intact ventricular septum (TGA‐IVS). A ventricular septal defect (VSD) is thought to be an additional risk factor for adverse neurodevelopment, but literature describing this population is sparse. The objectives of this study were to assess fetal cardiac hemodynamics throughout pregnancy, to monitor cerebral hemodynamics and oxygen metabolism in neonates, and to compare these data between patients with TGA‐IVS, those with TGA‐VSD and age‐matched controls. Methods: Cardiac hemodynamics were assessed in TGA‐IVS and TGA‐VSD fetuses and compared with healthy controls matched for gestational age (GA) during three periods: ≤ 22 + 5 weeks (GA1), 27 + 0 to 32 + 5 weeks (GA2) and ≥ 34 + 5 weeks (GA3). Left (LVO), right (RVO) and combined (CVO) ventricular outputs, ductus arteriosus flow (DAF, sum of ante‐ and retrograde flow in systole and diastole), diastolic DAF, transpulmonary flow (TPF) and foramen ovale diameter were measured. Aortic (AoF) and main pulmonary artery (MPAF) flows were derived as a percentage of CVO. Fetal middle cerebral artery and umbilical artery (UA) pulsatility indices (PI) were measured and the cerebroplacental ratio (CPR) was derived. Bedside optical brain monitoring was used to measure cerebral hemoglobin oxygen saturation (SO2) and an index of microvascular cerebral blood flow (CBFi), along with peripheral arterial oxygen saturation (SpO2), in TGA‐IVS and TGA‐VSD neonates. Using hemoglobin (Hb) concentration measurements, these parameters were used to derive cerebral oxygen delivery and extraction fraction (OEF), as well as an index of cerebral oxygen metabolism (CMRO2i). These data were acquired in the early preoperative period (within 3 days after birth and following balloon atrial septostomy) and compared with those of age‐matched healthy controls, and repeat measurements were collected before discharge when vital signs were stable. Results: LVO was increased in both TGA groups compared with controls throughout pregnancy. Compared with controls, TPF was increased and diastolic DAF was decreased in TGA‐IVS fetuses throughout pregnancy, but only during GA1 and GA2 in TGA‐VSD fetuses. Compared with controls, DAF was decreased in TGA‐IVS fetuses throughout pregnancy and in TGA‐VSD fetuses at GA2 and GA3. At GA2, AoF was higher in TGA‐IVS and TGA‐VSD fetuses than in controls, while MPAF was lower. At GA3, RVO and CVO were higher in the TGA‐IVS group than in the TGA‐VSD group. In addition, UA‐PI was lower at GA2 and CPR higher at GA3 in TGA‐VSD fetuses compared with TGA‐IVS fetuses. Within 3 days after birth, SpO2 and SO2 were lower in both TGA groups than in controls, while Hb, cerebral OEF and CMRO2i were higher. Preoperative SpO2 was also lower in TGA‐VSD neonates than in those with TGA‐IVS. From preoperative to predischarge periods, SpO2 and OEF increased in both TGA groups, but CBFi and CMRO2i increased only in the TGA‐VSD group. During the predischarge period, SO2 was higher in TGA‐IVS than in TGA‐VSD neonates, while CBFi was lower. Conclusions: Fetal cardiac and neonatal cerebral hemodynamic/metabolic differences were observed in both TGA groups compared with controls. Compared to those with TGA‐IVS, fetuses with TGA‐VSD had lower RVO and CVO in late gestation. A higher level of preoperative hypoxemia was observed in the TGA‐VSD group. Postsurgical cerebral adaptive mechanisms probably differ between TGA groups. Patients with TGA‐VSD have a specific physiology that warrants further study to improve neonatal care and neurodevelopmental outcome. © 2022 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

An abstract of the conference paper "Reliability of Doppler echocardiographic investigation in the diagnosis of fetuses with first degree atrioventricular block," by Y. Mivelaz and colleagues is presented.

Objectives: A growing percentage of cases of transposition of the great arteries (TGA) are being diagnosed prenatally. A decrease in the percentage of spontaneous deliveries has been reported, but the rate of cesarean section (c-section) in this population has never been studied. Our goal was to determine whether prenatal diagnosis affects delivery and immediate neonatal management of TGA neonates., Study Design: A series of 121 TGA arterial switch candidates were included over a 6-year period. Variables on delivery, clinical status at ICU admission, arrival time and atrial septostomy were recorded retrospectively. Comparisons between the two groups were made by Student's t or Chi-squared test., Results: A cohort of 121 patients was enrolled (48 prenatal and 73 postnatal diagnoses). Induced delivery and c-section were more frequent in the prenatal (54.1% and 31%) than in the postnatal diagnosis group (19.4% and 8%; p<0.0002 and p<0.001, respectively). The mean interval between birth and ICU admission was 2h 30 min in the prenatal compared to 26 h in the postnatal diagnosis group (p<0.001). Arrival times were similar in both groups. Atrial septostomy by umbilical route was more often feasible in the prenatal (81%) than in the postnatal diagnosis group (51%; p<0.001), with a higher rate of failure in the latter., Conclusion: Prenatal awareness of TGA was associated with a higher percentage of induced deliveries and a major increase in the rate of c-section, without any impact on the newborn except easier umbilical atrial septostomy and earlier ICU admission.

Congenital long QT syndrome is a rare and serious disorder in children. In addition to the clinical and electrocardiographical diagnostic criteria, molecular biochemistry has identified six genes which are implicated in this pathology. Our study involved a retrospective analysis of 23 patients aged less than 21 with congenital long QT syndrome, followed up for an average of two years. Genotypes were obtained for all of the patients. There were unfortunately two deaths, one of which had a mutation in the SCN5A gene. The other patient had a double mutation of the SCN5A and KCNE2 genes. Symptomatic patients had QT and QTc intervals noticeably longer than the asymptomatic patients, although this difference was not shown to be significant. LQT3 patients as well as those with a double mutation were affected more severely because two of the three LQT3 patients and one of the two patients with a double mutation suffered a cardiac arrest. Three patients in our study showed no mutation. Nevertheless, two of them suffered a severe cardiac event. This confirms the limits of genetic diagnosis, which could be envisaged in all cases. All of the clinical and ECG data should be combined with the genetic analysis in order to confirm the diagnosis.

We describe in this article the recent data on the genetics of congenital heart defects (CHD) organised by type of CHD although each predisposing genetic factor is associated with a whole variety of CHD types. The recent progress resulting from animal models, molecular cytogenetics and CHD familial cases studies allow a better understanding of the determinism of CHD. This lead in term to improved counselling of parents of affected children and of CHD adults who would like to become parents. Nevertheless, more progress is needed to reach a better accuracy in prediction.

Coronary disease of the transplanted heart is the principal cause limiting long-term survival of patients and grafts. In view of the invasive nature of coronary angiography, dobutamine echocardiography has been proposed as a non-invasive diagnostic method for this disease. The aim of this study was to determine the feasibility and reliability of this investigation in transplanted children. Twenty-one echoes were performed with dobutamine infusions in 17 patients transplanted at 10 months to 16.9 years of age (average 8.4 years), and followed up 1.1 to 10.1 years (average 4.4 years): 4 were on antihypertensive drugs but none were treated by betablockers. Dobutamine echocardiography was performed according to the standard protocol used in adults. The maximal level was attained in all cases. No major side effects were observed. The maximal heart rate attained 57 to 89% of the theoretical maximal rate, an increase of 44 to 184% compared with the basal heart rate. The maximal systolic blood pressure rose to 120 to 194 mmHg, an increase of 8 to 109% compared with resting values. The contractility scores and segmental contractile index were normal in 18 cases, abnormal at the maximal level in 2 cases (hypokinesia of segments 8 and 9 and akinesia of segments 10 and 16 with an index of 1.2), abnormal at the lowest levels (hypokinesia of segment 7 with an index of 1.1) and maximal level (hypokinesia of segments 1 and 7 with an index of 1.2) in one case. These results were concordant with coronary angiography performed within 2 to 8 days of echocardiography, and considered as the diagnostic investigation of reference (sensitivity 75%, specificity 100%, positive predictive value 100% and negative predictive value 93%). The authors conclude that dobutamine echocardiography is a non-invasive method easily performed with low risk in transplanted children but its diagnostic performance in coronary disease of the transplanted heart should be confirmed in larger studies.