Congenital Cardiovascular Malformations Research Articles

Loss-of-function of RNA-binding protein PRRC2B causes translational defects and congenital cardiovascular malformation.

Alternative splicing generates variant forms of proteins for a given gene and accounts for functional redundancy or diversification. A novel RNA-binding protein, Pro-rich Coiled-coil Containing Protein 2B (PRRC2B), has been reported by multiple laboratories to mediate uORF-dependent and independent regulation of translation initiation required for cell cycle progression and proliferation. We identified two alternative spliced isoforms in human and mouse hearts and HEK293T cells, full-length (FL) and exon 16-excluded isoform ΔE16. A congenital heart disease-associated human mutation-mimicry knock-in of the equivalent variant in the mouse genome leads to the depletion of the full-length Prrc2b mRNA but not the alternative spliced truncated form ΔE16, does not cause any apparent structural or functional disorders. In contrast, global genetic inactivation of the PRRC2B gene in the mouse genome, nullifying both mRNA isoforms, caused patent ductus arteriosus (PDA) and neonatal lethality in mice. Bulk and single nucleus transcriptome profiling analyses of embryonic mouse hearts demonstrated a significant overall downregulation of multiple smooth muscle-specific genes in Prrc2b mutant mice resulting from reduced smooth muscle cell number. Integrated analysis of proteomic changes in Prrc2b null mouse embryonic hearts and polysome-seq and RNA-seq multi-omics analysis in human HEK293T cells uncover conserved PRRC2B-regulated target mRNAs that encode essential factors required for cardiac and vascular development. Our findings reveal the connection between alternative splicing regulation of PRRC2B, PRRC2B-mediated translational control, and congenital cardiovascular development and disorder. This study may shed light on the significance of PRRC2B in human cardiovascular disease diagnosis and treatment.

NT-proBNP for Predicting All-Cause Death and Heart Transplant in Children and Adults with Heart Failure.

Plasma N-terminal prohormone B-type natriuretic peptide (NT-proBNP) concentration is a heart failure (HF) biomarker in adults and children. Its prognostic value for HF-related events has been established only in adults. Therefore, weaimed to test the hypothesis that plasma NT-proBNP concentrations predicted the risk of heart transplantation or death in children with HF. We studied the medical records of 109 children with HF enrolled in the IBM Watson Explorys database and from 150 children enrolled in the Pediatric Cardiomyopathy Registry (PCMR). Nonlinear regression was used to assess the relationship between plasma NT-proBNP concentrations and the risk of events in the two cohorts. All children in the PCMR cohort had dilated cardiomyopathy. The Explorys cohort also included children with congenital cardiovascular malformations. Median plasma NT-proBNP concentrations were 1250pg/mL and 184pg/mL in the Explorys and PCMR cohorts, respectively. The percentage of deaths/heart transplantations was 7%/22%, over 2years in the Explorys cohort and 3%/16% over 5years in the PCMR cohort. Mean estimates of plasma NT-proBNP concentration indicative of half-maximum relative risk for events (EC50 values) at 2 and 5years were 3730pg/mL and 4199pg/mL, respectively, values both close to the mean of 3880pg/mL established for adults with HF. The plasma NT-proBNP concentration is suitable for estimating relative risk of mortality and heart transplantation in children with HF, independent of etiology and shows similar relations to clinical outcomes as in adults, indicating its likely value as a surrogate marker both for adult and pediatric HF.ClinicalTrials.gov Identifiers: NCT00005391 (May 26, 2000), NCT01873976 (June 10, 2013).

Human Genetics of Hypoplastic Left Heart Syndrome.

Hypoplastic left heart syndrome (HLHS) is a severe congenital cardiovascular malformation characterized by hypoplasia of the left ventricle, aorta, and other structures on the left side of the heart. The pathologic definition includes atresia or stenosis of both the aortic and mitral valves. Despite considerable progress in clinical and surgical management of HLHS, mortality and morbidity remain concerns. One barrier to progress in HLHS management is poor understanding of its cause. Several lines of evidence point to genetic origins of HLHS. First, some HLHS cases have been associated with cytogenetic abnormalities (e.g., Turner syndrome). Second, studies of family clustering of HLHS and related cardiovascular malformations have determined HLHS is heritable. Third, genomic regions that encode genes influencing the inheritance of HLHS have been identified. Taken together, these diverse studies provide strong evidence for genetic origins of HLHS and related cardiac phenotypes. However, using simple Mendelian inheritance models, identification of single genetic variants that "cause" HLHS has remained elusive, and in most cases, the genetic cause remains unknown. These results suggest that HLHS inheritance is complex rather than simple. The implication of this conclusion is that researchers must move beyond the expectation that a single disease-causing variant can be found. Utilization of complex models to analyze high-throughput genetic data requires careful consideration of study design.

Aortic growth rates in a Swedish cohort of women with Turner syndrome

BackgroundAortic dilation, cardiac malformations and hypertension are known risk factors for aortic dissection in Turner syndrome (TS). In the current guidelines, rapid growth of the aorta has been added as a risk marker. This study aimed to estimate the growth of the ascending aorta over time, to identify risk factors of aortic growth, and to describe aortic complications in TS. MethodsA transthoracic echocardiogram was performed at least twice in 101 women with TS, mean age 28 years, with a mean follow-up of 8.3 ± 3.4 (range 1–17) years. The investigator was blinded to the clinical status. Logistic regression analysis was used to identify risk factors of aortic growth. ResultsThe prevalence of ascending aortic dilation (ASI >20 mm/m2) was 26 % and the mean ascending aortic diameter was 27.0 ± 4.8 mm at baseline. Significant aortic growth was found at sinus of Valsalva 1.08 (±2.11) mm, sinotubular junction 1.07 (±2.23) mm, and the ascending aorta 2.32 (±2.93) mm, p < 0.001. The mean ascending aortic growth rate was 0.25 (±0.35) mm/year, and higher compared to the general female population, 0.12 (±0.05) mm/year, p < 0.0001. No risk factors for aortic growth (bicuspid aortic valve, coarctatio, hypertension or karyotype) other than body weight could be identified, Odds ratio 1.05 (95 % CI 1.00–1.09), p = 0.029. Eight women had an aortic event of whom all had bicuspid aortic valves. ConclusionsThe growth rate of the ascending aorta in TS was increased compared to the general female population. Congenital cardiovascular malformations were not predictive of aortic growth.

Defining the Spectrum of Hypoplastic Left Heart Syndrome (HLHS).

The 2021 International Paediatric and Congenital Cardiac Code and the Eleventh Revision of the International Classification of Diseases provide the following definition for hypoplastic left heart syndrome (HLHS): "Hypoplastic left heart syndrome (HLHS) is defined as a spectrum of congenital cardiovascular malformations with normally aligned great arteries without a common atrioventricular junction, characterized by underdevelopment of the left heart with significant hypoplasia of the left ventricle including atresia, stenosis, or hypoplasia of the aortic or mitral valve, or both valves, and hypoplasia of the ascending aorta and aortic arch." Although HLHS with intact ventricular septum (HLHS + IVS) and HLHS with ventricular septal defect (HLHS + VSD) are different cardiac phenotypes, both of these lesions are part of the spectrum of HLHS.

Morphogenetic processes in the development and evolution of the arteries of the pharyngeal arches: their relations to congenital cardiovascular malformations.

The heart and aortic arch arteries in amniotes form a double circulation, taking oxygenated blood from the heart to the body and deoxygenated blood to the lungs. These major vessels are formed in embryonic development from a series of paired and symmetrical arteries that undergo a complex remodelling process to form the asymmetric arch arteries in the adult. These embryonic arteries form in the pharyngeal arches, which are symmetrical bulges on the lateral surface of the head. The pharyngeal arches, and their associated arteries, are found in all classes of vertebrates, but the number varies, typically with the number of arches reducing through evolution. For example, jawed vertebrates have six pairs of pharyngeal arch arteries but amniotes, a clade of tetrapod vertebrates, have five pairs. This had led to the unusual numbering system attributed to each of the pharyngeal arch arteries in amniotes (1, 2, 3, 4, and 6). We, therefore, propose that these instead be given names to reflect the vessel: mandibular (1st), hyoid (2nd), carotid (3rd), aortic (4th) and pulmonary (most caudal). Aberrant arch artery formation or remodelling leads to life-threatening congenital cardiovascular malformations, such as interruption of the aortic arch, cervical origin of arteries, and vascular rings. We discuss why an alleged fifth arch artery has erroneously been used to interpret congenital cardiac lesions, which are better explained as abnormal collateral channels, or remodelling of the aortic sac.

Risk of adverse pregnancy outcome in isolated single umbilical artery diagnosed at the mid-trimester anomaly scan: a large Danish retrospective cohort study

Objective To examine the association of isolated single umbilical artery (iSUA) confirmed at the mid-trimester anomaly scan and adverse pregnancy outcome and congenital malformations with up to 10 years postnatal follow up. Methods This retrospective cohort study included 116,501 singleton pregnancies consecutively enrolled in first trimester screening for aneuploidies and mid-trimester anomaly scan at three University Hospitals in the Capital Region of Copenhagen, Denmark. Data from the Danish Fetal Medicine Database (2008–2017) were verified by manually scrutinizing pre- and postnatal records. The main outcomes of interest were intrauterine fetal demise (IUFD), small for gestational age (SGA), preterm delivery, cesarean section and unrecognized pre- and postnatal congenital malformations. Results In total, 775 pregnancies with iSUA were identified. Isolated SUA were associated with a significantly increased risk of IUFD (OR 4.16, 95% CI 2.06–8.44), SGA < 3rd centile (aOR 2.41, 95% 1.85–3.14) and SGA < 10th centile (aOR 1.84, 95% CI 1.53–2.21), but not with preterm delivery or cesarean section. The laterality of the missing artery was not associated with SGA. In total, 4.3% of pregnancies with iSUA had unrecognized congenital malformations. 1.5% with iSUA had congenital cardiovascular malformations, which were considered minor. Conclusion Isolated SUA is associated with IUFD and SGA, supporting surveillance during third trimester. If, during the mid-trimester scan, the sonographer achieves thorough, extended cardiac views and finds no additional malformation other than SUA, fetal echocardiography seems not to be needed.

Diagnosis and surgical outcomes of coarctation of the aorta in pediatric patients: a retrospective study.

Coarctation of the aorta (CoA) is a common congenital cardiovascular malformation, and improvements in the diagnostic process for surgical decision-making are important. We sought to compare the diagnostic accuracy of transthoracic echocardiography (TTE) with computed tomographic angiography (CTA) to diagnose CoA. We retrospectively reviewed 197 cases of CoA diagnosed by TTE and CTA and confirmed at surgery from July 2009 to August 2019. The surgical findings confirmed that 19 patients (9.6%) had isolated CoA and 178 (90.4%) had CoA combined with other congenital cardiovascular malformations. The diagnostic accuracy of CoA by CTA was significantly higher than that of TTE (χ2 = 6.52, p = 0.01). In contrast, the diagnostic accuracy of TTE for associated cardiovascular malformations of CoA was significantly higher than that of CTA (χ2 = 15.36, p < 0.0001). Infants and young children had more preductal type of CoA, and PDA was the most frequent cardiovascular lesion associated with CoA. The pressure gradient was significantly decreased after the first operation, similar at 6 months, 1 year, and 3 years follow-ups by TTE. CTA is more accurate as a clinical tool for diagnosing CoA; however, TTE with color Doppler can better identify associated congenital cardiovascular malformations. Therefore, combining TTE and CTA would benefit clinical evaluation and management in patients suspected of CoA. TTE was valuable for post-operation follow-up and clinical management.

Computed Tomography and Magnetic Resonance Imaging Findings of Bicuspid Aortic Valve and Related Abnormalities of the Heart and Thoracic Aorta.

The bicuspid aortic valve (BAV) is the most common congenital cardiovascular malformation. Patients with BAV are at higher risk of other congenital cardiovascular malformations and valvular dysfunction, including aortic stenosis/regurgitation and infective endocarditis. BAV may also be related to aortic wall abnormalities such as aortic dilatation, aneurysm, and dissection. The morphology of the BAV varies with the presence and position of the raphe and is associated with the type of valvular dysfunction and aortopathy. Therefore, accurate diagnosis and effective treatment at an early stage are essential to prevent complications in patients with BAV. This pictorial essay highlights the characteristics of BAV and its related congenital cardiovascular malformations, valvular dysfunction, aortopathy, and other rare cardiac complications using multimodal imaging.

THE TRIATRIAL HEART (COR TRIATRIATUM) – RARE ADULT CONGENITAL HEART DEFECT

Background: Cor triatriatum is a rare congenital cardiac malformation. Prevalence is only around 0.1% of the diagnosed congenital cardiovascular malformations. Historically the prevalence has been described around 0.4% in autopsies in patients with congenital heart disease. It is characterized by the presence of a membrane, usually, the endocardium and fibro-muscular tissue within one of the atrial chambers, dividing it into two, thereby giving the appearance of three atrial chambers. Case report: A 72-year-old patient presented to our cardiac surgery department with complaints of rhythm disorders, heart palpitations and shortness of breath. The patient has a history of mitral valve pathology. During the last six months, she has had a progression of these heart failure clinical manifestation and is reffered to our institution for mitral valvle surgery after selective coronary angiography. The echocardiography showed an abnormal membrane dividing the left atrium, and the diagnosis of cor triatriatum was fully made via transesophageal echocardiography. There were associated significant mitral valve and tricuspid valve regurgitations. Conclusion: CTS/cor triatrium sinister/ is a congenital acyanotic heart disease which rarely presents during adulthood. The symptoms in adults are similar to those of mitral valve stenosis. The prognosis of the patient with CTS depends on the size of the fenestration into the fibromuscular membrane. Corrective surgery is a treatment of choice for CTS.

Evaluating the Effectiveness of Stenting for Aortic Coarctation

Coarctation of the aorta (CoA) is a congenital cardiovascular malformation involving narrowing of the thoracic aorta just distal to the left subclavian artery. The aim of our study was to evaluate the hemodynamic effects of endovascular treatment for CoA by using invasive aortic catheterization. All patients with CoA who underwent treatment by aortic stent implantation between September 1, 2003, and February 1, 2019, at the "Onassis Cardiac Surgery Center," in Athens, Greece, were evaluated. Patients were treated with either bare (uncovered) Cheatham-Platinum (bCP) or covered Cheatham-Platinum (cCP) stent implantations. Invasive aortic pressure measurements were recorded before and after the endovascular intervention. A total of 48, eight zig CP stents, comprising 24 bCP and 24 cCP stents were implanted in 47 patients. The mean aortic diameter (mm) at the CoA lesion increased from 9.7 ± 3.3 to 19.2 ± 2.9 mm (p <0.01) after the endovascular procedure. The invasive mean blood pressure (BP; mm Hg) from catheterization in the descending aorta increased (before = 114.2 ± 12.8 vs. after = 135.5 ± 28.1; p <0.01), while the invasive mean BP (mm Hg) from catheterization in the ascending aorta was decreased (before = 156.8 ± 25.0 vs. after = 138.4 ± 27.5; p <0.01) after the intervention. The mean aortic BP gradient decreased in both types of stents after intervention (BP gradient among patients with cCP stents = 30.9 +/- 23.6 mmHg and BP gradient among patients with bCP stents = 38.0 +/-23.1 mmHg). However, there was no statistically significant difference between the two types of stents; p = 0.36. Invasive aortic catheterization provided evidence that endovascular stenting with either bare or covered stents is efficient in treating patients with CoA.

Hypoplastic Left Heart Syndrome: Definition, Morphology, and Classification.

This manuscript will provide information about hypoplastic left heart syndrome (HLHS) and related malformations, including definitions, morphology, and classification, based on the 2021 International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Revision of the International Classification of Diseases (ICD-11). HLHS is defined as "a spectrum of congenital cardiovascular malformations with normally aligned great arteries without a common atrioventricular junction, characterized by underdevelopment of the left heart with significant hypoplasia of the left ventricle including atresia, stenosis, or hypoplasia of the aortic or mitral valve, or both valves, and hypoplasia of the ascending aorta and aortic arch." Functionally univentricular heart is defined as "a spectrum of congenital cardiac malformations in which the ventricular mass may not readily lend itself to partitioning that commits one ventricular pump to the systemic circulation, and another to the pulmonary circulation." The Norwood operation is synonymous with the term "Norwood (Stage 1)" and is defined as (1) creation of an aortopulmonary connection and neoaortic arch construction resulting in univentricular physiology and (2) creation of a controlled source of pulmonary blood flow with a calibrated systemic-to-pulmonary artery shunt, a right ventricle to pulmonary artery conduit, or rarely, a cavopulmonary connection. The goals of the Norwood (Stage 1) Operation are creation of (1) unobstructed systemic blood flow via aortopulmonary connection and neoaortic arch construction, (2) unobstructed coronary blood flow, (3) unobstructed flow across the atrial septum, and (4) controlled pulmonary blood flow.

Treatment and prognosis of Scimitar syndrome: A retrospective analysis in a single center of East China.

BackgroundScimitar syndrome is a rare congenital cardiovascular malformation; its optimal management remains controversial. This study aims to present the clinical experience of this disease in our center.MethodsWe undertook a retrospective review of 34 patients with Scimitar syndrome documented at our institution between January 2013 and December 2018. The patients' clinical characteristics, management, and prognosis data were collected and analyzed.ResultsThirty-four patients, including 16 males and 18 females, were enrolled with a median age at diagnosis of 7 months and a follow-up period of 22.5 months. The infantile form of Scimitar syndrome presents more tendency for pulmonary hypertension (PH), pulmonary vein stenosis (PVS), and mortality than the adult form. Of the 15 patients who underwent surgical correction of the Scimitar vein, four had post-operation PVS. There was no significant difference in the stenosis incidence between baffle repair and Scimitar vein reimplantation groups. Eight patients received interventional catheter therapy, including occlusion of aortopulmonary collateral arteries (APCs) and other intracardiac malformations, without the following surgery. The overall mortality rate was 20.5% (7 of 34) over the study period. High-risk factors of death included age at diagnosis (p = 0.000), PH (p = 0.007) and PVS (p = 0.014).ConclusionsInfantile Scimitar syndrome needs intense suspicion for early diagnosis and multidisciplinary treatment. Interventional treatment of Scimitar syndrome alleviates pulmonary artery pressure and progression during infancy. Baffle repair and direct reimplantation of the Scimitar vein used in the surgical treatment of Scimitar syndrome are safe and have similar effects. Age at diagnosis, PH, and PVS are high-risk factors for death in Scimitar syndrome.

Fetal Cardiovascular MRI - A Systemic Review of the Literature: Challenges, New Technical Developments, and Perspectives.

Fetal magnetic resonance imaging (MRI) has become a valuable adjunct to ultrasound in the prenatal diagnosis of congenital pathologies of the central nervous system, thorax, and abdomen. Fetal cardiovascular magnetic resonance (CMR) was limited, mainly by the lack of cardiac gating, and has only recently evolved due to technical developments. A literature search was performed on PubMed, focusing on technical advancements to perform fetal CMR. In total, 20 publications on cardiac gating techniques in the human fetus were analyzed. Fetal MRI is a safe imaging method with no developmental impairments found to be associated with in utero exposure to MRI. Fetal CMR is challenging due to general drawbacks (e. g., fetal motion) and specific limitations such as the difficulty to generate a cardiac gating signal to achieve high spatiotemporal resolution. Promising technical advancements include new methods for fetal cardiac gating, based on novel post-processing approaches and an external hardware device, as well as motion compensation and acceleration techniques. Newly developed direct and indirect gating approaches were successfully applied to achieve high-quality morphologic and functional imaging as well as quantitative assessment of fetal hemodynamics in research settings. In cases when prenatal echocardiography is limited, e. g., by an unfavorable fetal position in utero, or when its results are inconclusive, fetal CMR could potentially serve as a valuable adjunct in the prenatal assessment of congenital cardiovascular malformations. However, sufficient data on the diagnostic performance and clinical benefit of new fetal CMR techniques is still lacking. · New fetal cardiac gating methods allow high-quality fetal CMR.. · Motion compensation and acceleration techniques allow for improvement of image quality.. · Fetal CMR could potentially serve as an adjunct to fetal echocardiography in the future.. · Knapp J, Tavares de Sousa M, Schönnagel BP. Fetal Cardiovascular MRI - A Systemic Review of the Literature: Challenges, New Technical Developments, and Perspectives. Fortschr Röntgenstr 2022; 194: 841 - 851.

Risk Factors for the Development of Pneumonia Below 2 Years of Age

Acute respiratory tract illness is the leading cause of death in the developing countries. This case control study was endeavored with an aim to assess the factors that can increase the risk of pneumonia in children. Methodology: This Case-Control study was carried out at the Paediatrics Department of Jalalabad Ragib Rabeya Medical College Hospital (JRRMCH) in Sylhet from January 2018 to July 2018.This study involved 200 children of 6 to 24 months age, among them 100 children who was hospitalized in JRRMCH for pneumonia during the study period as case. The control group included 100 children who was selected purposively came for immunization at JRRMCH EPI centre and at OPD for other problem but free from pneumonia. Sample were selected according to the inclusion &amp; exclusion criteria. A case definition for pneumonia as outlined by the WHO(2014) was used as the criteria for case inclusion. Children with history of low birth weight, congenital cardiovascular or respiratory malformation, chromosomal abnormalities, recurrent wheeze, were excluded from the study. Data were collected by interviews of the parents using a structured questionnaire. Pneumonia (a child with cough or difficult breathing and fast breathing and or chest in-drawing with recently developed radiological pulmonary shadowing)1 affected 100 children included in case group and 100 children free of pneumonia included in control group. SPSS version 22 were used to analyze the data. Independent sample‘t’ test and Chi (x2 ) square test were done. Results: Residential area, socio-economic status, maternal education, H/A score, formula feeding, types of complimentary feeding, passive smoking, birth order &gt;2, family member, crowding index and birth spacing are significantly associated with development of pneumonia. Conclusion: Children belonged to rural area, poor maternal education, low socio-economic status, stunting height for age, formula feeding, types of complimentary feeding, exposure to passive smoking, birth order&gt;2, birth spacing, family member and crowding index were significantly (p&lt;0.05) associated with pneumonia.

Morphogenesis of the Mammalian Aortic Arch Arteries.

The major vessels in mammals that take blood away from the heart and deliver it to the arms and the head take their origin from the aortic arch and are derived from the arteries formed within the embryonic pharyngeal arches. These pharyngeal arch arteries, initially symmetrical, form in a cranial to caudal sequence within the pharyngeal mesenchyme. They then undergo a complex process of remodeling to produce the asymmetrical brachiocephalic arteries as seen in the adult. A complex interaction between the tissues of the pharyngeal arches and the genes they express is required to ensure that arterial formation and remodeling is able to proceed normally. If this process is disrupted, life-threatening congenital cardiovascular malformations can occur, such as interruption of the aortic arch, isolation of individual arteries, or so-called vascular rings. Here, using state-of-the-art imaging techniques, we describe the morphogenesis of the arteries in humans and mice and the cardiovascular defects in the Tbx1 mutant mouse model. We provide details of the process of remodeling, clarifying also the morphogenesis of the external carotid artery and the so-called “migration” of the left subclavian artery.

Feasibility study in assessment of congenital cardiovascular malformation by recent technique of fetal cardiac MR imaging

BackgroundAbnormalities of the cardiovascular system are the most common congenital diseases in the fetus and the first cause of infant mortality. Echocardiography is still the method of choice to visualize the fetal cardiac cardiovascular abnormalities, yet cardiovascular magnetic resonance (CMR) is relatively unaffected by maternal and fetal conditions such as maternal obesity, uterine myoma, twins, oligohydramnios, fetal position and rib calcification, which particularly impair sonographic visualization of the fetal heart. Fetal cardiac MR imaging is a novel MRI technique which can provide valuable information that could add to the prenatal diagnosis and evaluation of cardiac and most of extra-cardiac anomalies. In this work, we aimed to highlight the advantage of FCMRI over fetal echocardiography in assessment of fetal congenital cardiac anomalies.ResultsFifty-Two fetuses with suspected or diagnosed congenital cardiac anomalies. All cases underwent detailed history taking, underwent fetal echocardiography using suitable curvilinear probe and performed according to standard protocol, then fetal cardiac MR was done with Balanced fast field echo, Black blood single shot, white blood Cine, Real-time 3D dynamic sequences, images were acquired in the transverse, four-chamber, short-axis, coronal and oblique sagittal views. Findings of fetal echocardiography were compared with that of cardiac MRI and with standard post-natal echocardiography. Prenatal Echo and fetal cardiac MRI showed significant moderate agreement between the two modalities in the detection of different congenital cardiac anomalies, Kappa test: 0.500; p value 0.021. Fetal MRI had a significant role in detection of extra cardiac anomalies in most cases. Comparing to gold standard post-natal echo. Accuracy of fetal CMRI is 95.5% and of fetal Echo is 86.4% regarding overall cardiac anomalies:ConclusionFetal cardiac MR imaging as an adjunct to fetal echocardiography may provide valuable information that could add to the prenatal diagnosis and evaluation of cardiac and most of extra cardiac anomalies.

Prenatal diagnosis of significant congenital heart disease and elective termination of pregnancy in Nevada

Objective We investigated the relationship between prenatal detection of significant congenital heart disease and elective termination of pregnancy over time in Nevada. Methods We identified those prenatally or post-natally diagnosed with significant congenital cardiovascular malformations in Nevada with birth dates or estimated delivery dates between July 2012 and June 2021. Results We identified 1246. Of 1246, 69 underwent fetal demise, 42 had elective termination, and 1135 were live-born. Of the 1135 live-born, 1090 had prenatal care, of which 718 (66%) overall had a prenatal diagnosis of significant congenital heart disease. However, prenatal detection statistically significantly increased over time from 45 to 82%, p = .00001. Termination of pregnancy averaged 10% of those identified within the legal timeframe, and the rate did not statistically significantly increase with increasing prenatal detection rates, p = .56. Of the 42 undergoing elective termination, 23 (55%) had syndromes or comorbidities vs. 280 (25%) of the 1135 live-births, p = .0003. Conclusions In Nevada, despite a statistically significant increase in prenatal detection of significant congenital heart disease over time, termination of pregnancy rates did not increase. Nevertheless, those undergoing elective termination were more likely to have associated syndromes or comorbidities.

Stage-1 Hybrid Palliation for High-Risk 2-Ventricle Patients with Ductal-Dependent Systemic Circulation in the Era of High Prenatal Detection.

We reviewed our center's prenatal detection and surgical experience with high-risk, 2-ventricle patients, with complex congenital heart disease that underwent stage-1 hybrid palliation. We retrospectively identified those born between March 2008 and March 2021 with 2-ventricle hearts, complex congenital cardiovascular malformations, and ductal-dependent systemic circulation that underwent stage-1 hybrid palliation consisting of surgical bilateral pulmonary artery banding and interventional catheterization placed ductus arteriosus stents. We identified 30 patients. Of the 30, 19 (63%) were male. For the 30, median gestational age was 35 weeks (29-39 weeks), and median birth weight was 2.2 kg (0.6-4.5 kg). Of the 30, 1 was transferred from an adjacent state, and 29 were born in Nevada. Of the 29 born in Nevada, overall statewide prenatal detection was 18 of 29 (62%); however, for 2008 to 2011 the prenatal detection rate was 3 of 10 (30%) and 15 of 19 (79%) for 2012 to 2021, P = .03. For the last 5 years, prenatal detection for Nevada-born patients was 8 of 8 (100%). Two full-term newborns, without a prenatal diagnosis, presented postnatally in extremis. For the 30 patients, there were 0 stage-1 hybrid palliation mortalities, 1 subsequent repair mortality, and 3 late nonsurgical deaths. Stage-1 hybrid palliation may result in excellent surgical outcomes for high-risk, 2-ventricle patients. Additionally, high rates of population-wide prenatal detection are possible for high-risk congenital heart disease, allowing prenatal planning and possibly reducing postnatal extremis presentations.

Prenatal ambient temperature and risk for schizophrenia

ObjectiveWe conducted a systematic review of the published literature to test the hypothesis that maternal exposure to extremes of ambient temperatures during pregnancy is associated with the risk for psychiatric disorders or congenital malformations in offspring, both of which are indicative of perturbations of fetal neurodevelopment. MethodThis study was conducted in accordance with the recommendations outlined in the Meta-analysis of Observational Studies in Epidemiology (MOOSE) reporting proposal.Electronic databases (Ovid MEDLINE, Ovid Embase, Ovid PsycINFO, Ovid Global Health, Web of Science, and Cochrane Library) were searched. Four independent reviewers selected studies with the following criteria: (1) prenatal maternal ambient temperature exposure; (2) outcome of offspring psychiatric disorder or congenital defects; (3) empirical study; (4) full-length article, no conference presentations or abstracts. ResultsTwenty-two studies met criteria and one was added from a reference list (n = 23). Of these, schizophrenia (n = 5), anorexia nervosa (n = 3) and congenital cardiovascular malformations (n = 6) studies were the most common. Each of these categories showed some evidence of association with an early pregnancy maternal ambient heat exposure effect, with other evidence for a late pregnancy cold effect. ConclusionSome evidence supports a role for early pregnancy maternal exposure to extreme ambient heat in the development of psychiatric disorders, but large-scale, prospective cohort data on individual births is essential. Optimal studies will be conducted in seasonally variable climates, accounting for actual maternal residence over the pregnancy and at parturition, local environmental temperature records, and appropriate covariates, similar to studies identified by this systematic review for congenital malformations.