Dextro-transposition Of The Great Arteries Research Articles

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.

Fibrillin-1 and fibrillin-2, encoded by FBN1 and FBN2, respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families. We performed clinical phenotyping for two newborn infants with complex congenital heart defects. For genetic investigations, we employed next-generation sequencing strategies including whole-genome Single-Nucleotide Polymorphism (SNP) microarray for infant A with valvular insufficiency, aortic sinus dilatation, hydronephrosis, and dysmorphic features, and Trio whole-exome sequencing (WES) for infant B with dextro-transposition of the great arteries (D-TGA) and both parents. Infant A is a term male with neonatal marfanoid features, left-sided hydronephrosis, and complex congenital heart defects including tricuspid regurgitation, aortic sinus dilatation, patent foramen ovale, patent ductus arteriosus, mitral regurgitation, tricuspid regurgitation, aortic regurgitation, and pulmonary sinus dilatation. He developed severe persistent pulmonary hypertension and worsening acute hypercapnic hypoxemic respiratory failure, and subsequently expired on day of life (DOL) 10 after compassionate extubation. Cytogenomic whole-genome SNP microarray analysis revealed a deletion within the FBN1 gene spanning exons 7-30, which overlapped with the exon deletion hotspot region associated with neonatal Marfan syndrome. Infant B is a term male prenatally diagnosed with isolated D-TGA. He required balloon atrial septostomy on DOL 0 and subsequent atrial switch operation, atrial septal defect repair, and patent ductus arteriosus ligation on DOL 5. Trio-WES revealed compound heterozygous c.518C>T and c.8230T>G variants in the FBN2 gene. Zygosity analysis confirmed each of the variants was inherited from one of the parents who were healthy heterozygous carriers. Since his cardiac repair at birth, he has been growing and developing well without any further hospitalization. Our study highlights novel FBN1/FBN2 variants and signifies the phenotype-genotype association in two infants affected with complex congenital heart defects with and without dysmorphic features. These findings speak to the importance of next-generation high-throughput genomics for novel variant detection and the phenotypic variability associated with FBN1/FBN2 variants, particularly in the neonatal period, which may significantly impact clinical care and family counseling.

Echocardiographic imaging of neonatal transposition of great arteries: Rare case report and review of literature

Transposition of the great arteries (TGA) is a congenital conotruncal abnormality characterized by discordant connections between the ventricles and great arteries, with the aorta originating from the right ventricle (RV), and the pulmonary artery (PA) originating from the left ventricle (LV). The two main types of TGA are complete transposition or dextro-transposition of the great arteries (D-TGA), commonly referred to as D-loop, and congenitally corrected transposition (CCTGA), commonly referred to as L-loop or L-TGA. In D-TGA, the connections between the ventricles and atria are concordant, whereas in CCTGA they are discordant, with the left atrium connected to the RV, and the right atrium connected to the LV. Imaging plays an important role in the evaluation of TGA, both before and after surgery, for helping define the anatomy, quantify hemodynamics, and evaluate complications. Transthoracic echocardiography is the first-line imaging modality for pre-surgical planning in children with TGA. MRI provides comprehensive morphologic and functional information, particularly in adults after surgery. CT is performed when MRI is contraindicated or expected to generate artifacts. We are reporting an extremely rare and unique case of 25-day old male neonate, suffering from TGA with a side to side alignment of great arteries, accompanied by a moderate sized restrictive atrial septal defect (ASD) and an ascending aortic aneurysm (AAA).

Characteristics and Outcomes of a Single-Centre Cohort of Adult Congenital Heart Disease Patients Referred for Heart Transplant

Adult congenital heart disease (ACHD) services increasingly encounter heart failure (HF) in the ageing ACHD population. Optimal timing of referral for heart transplant (HTx) evaluation in this heterogeneous population is complex and ill-defined. We aim to outline the characteristics and outcomes of ACHD patients referred for HTx from a large Australian ACHD centre. Retrospective review of ACHD patients referred for HTx from a primary ACHD centre (1992-2021). Database analysis of patient demographics, characteristics, wait-listing, and transplantation outcomes was performed. A total of 45 patients (mean age 37±9.9 years old; 69% male) were referred for HTx with a mean follow-up of 5.9±6.3 years. Of these, 22 of 45 (49%) were listed and transplanted, including one heart-lung transplant. The commonest diagnosis was dextro-transposition of the great arteries (13/45, 29%). Most patients, 33 of 45 (73.3%) had undergone at least one cardiac surgery in childhood. Indications for HTx referral included HF in 34 of 45 (75%), followed by pulmonary hypertension in 7 of 45 (11%). Median transplant wait-list time was 145 days (interquartile range, 112-256). Of the 23 patients not wait-listed, the reasons included clinical stability in 13 of 45 (29%), psychosocial factors in 2 of 45 (4.4%) and prohibitive surgical risk, including multiorgan dysfunction, in 8 of 45 (17.7%). Transplant was of a single organ in most, 21 of 22 (95.5%). Overall mortality was 5 of 22 (22.7%) in those after HTx, and 14 of 23 (60.9%) in those not listed (p=0.0156). Increasingly, ACHD patients demonstrate the need for advanced HF treatments. HTx decision-making is complex, and increased mortality is seen in those not wait-listed. Ultimately, the referral of ACHD patients for HTx is underpinned by local decision-making and experience, wait-list times and outcomes.

Abstract 13332: Assessment of Myocardial Oxygenation Response to Vasoactive Breathing Maneuvers in Patients With Repaired Dextro-Transposition of the Great Arteries an OS-CMR Study

Introduction: Long-term outcomes of patients with repaired Dextro-transposition of the great arteries (D-TGA) by arterial switch operation (ASO) are excellent. However, studies have suggested impaired myocardial blood flow reserve. Oxygen-sensitive cardiac magnetic resonance (OS-CMR) with vasoactive breathing maneuvers (BM) offers a contrast-free tool for evaluating myocardial oxygenation. Hypothesis: Evaluate myocardial oxygenation reserve and microvascular function in repaired D-TGA post-ASO using OS-CMR with BM. Methods: In this single-center study, we analyzed OS-CMR images (basal and mid-left ventricular slices) of 9 D-TGA post-ASO patients (mean age 29 ±6.52yrs, 33.3% females) and 10 healthy participants (mean age 33 ±8.9 yrs, 40% females) who completed the BM. The BM consisted of free breathing, then hyperventilation, causing vasoconstriction, then breath hold, causing vasodilatation. End-systolic OS-CMR signal intensity (SI) was measured at baseline, after hyperventilation (closest to 0 sec of breath hold), and at closest to 30 sec of breath hold. Changes in SI (ΔSI) in % were calculated in response to the different periods and compared using independent samples t-test. Results: In the D-TGA cohort, the coronary response to hyperventilation was abnormal compared to healthy subjects (5.8±19.9% vs -15.1±13.3%, p=0.01). No difference was observed in ΔSI% during breath hold (mean TGA:3.0±10.5% vs mean healthy:5.7±6%, p=0.5). No differences were observed in mid-slices for either period. Conclusions: Our findings suggest patients with D-TGA may have an impaired vasoconstrictor response to a hyperventilation maneuver. Further studies should explore the associated pathophysiology and potential impact on clinical management.

Growth of the Neo-Aortic Root and Prognosis of Transposition of the Great Arteries

BackgroundNeo-aortic root dilatation can lead to significant late morbidity after the arterial switch operation (ASO) for dextro-transposition of the great arteries (d-TGA). ObjectivesWe sought to examine the growth of the neo-aortic root in d-TGA. MethodsA single-center, retrospective cohort study of patients who underwent the ASO between July 1, 1981 and September 30, 2022 was performed. Morphology was categorized as dextro-transposition of the great arteries with intact ventricular septum (d-TGA-IVS), dextro-transposition of the great arteries with ventricular septal defect (d-TGA-VSD), and double-outlet right ventricle-transposition of the great arteries type (DORV-TGA). Echocardiographically determined diameters and derived z scores were measured at the annulus, sinus of Valsalva, and sinotubular junction immediately before the ASO and throughout follow-up. Trends in root dimensions over time were assessed using linear mixed-effects models. The association between intrinsic morphology and the composite of moderate-severe aortic regurgitation (AR) and neo-aortic valve or root intervention was evaluated with univariable and multivariable Cox proportional hazards models. ResultsOf 1,359 patients who underwent the ASO, 593 (44%), 666 (49%), and 100 (7%) patients had d-TGA-IVS, d-TGA-VSD, and DORV-TGA, respectively. Each patient underwent a median of 5 echocardiograms (Q1-Q3: 3-10 echocardiograms) over a median follow-up of 8.6 years (range: 0.1-39.3 years). At 30 years, patients with DORV-TGA demonstrated greater annular (P < 0.001), sinus of Valsalva (P = 0.039), and sinotubular junction (P = 0.041) dilatation relative to patients with d-TGA-IVS. On multivariable analysis, intrinsic anatomy, older age at ASO, at least mild AR at baseline, and high-risk root dilatation were associated with moderate-severe AR and neo-aortic valve or root intervention at late follow-up (all P < 0.05). ConclusionsLongitudinal surveillance of the neo-aortic root is warranted long after the ASO.

Maximum Surgical Blood Ordering Schedule in Common Pediatric Cardiac Surgeries in a Tertiary Center.

Unnecessary pre-operative ordering of red blood cells (RBCs) in elective surgeries increases costs and waste of blood inventory. Maximum surgical blood order schedule (MSBOS) is a helpful strategy in the estimation of blood units needed for surgery and the prevention of overconsumption. In this study, an MSBOS for pediatric cardiac surgeries is designed. In this cross-sectional study, we included all pediatric patients who underwent elective cardiac surgery in Children's Medical Center in Tehran, Iran, from March 21, 2019, to September 22, 2019. Data consisted of the type of surgery and the number of blood units transfused and units cross-matched, based on which cross-match to transfusion ratio (CTR), the transfusion index (TI), and transfusion probability (T%) were calculated. Overall 205 pediatric patients were included in the study. Four hundred and ten RBCs units were cross-matched, and 262 were transfused. The overall results of the CTR, T%, and TI for all the eight types of cardiac surgery were 1.56 (410/262), 76% (157/205), and 1.28 (262/205), respectively. The raw MSBOS for cardiac surgeries included ventricular septal defect, tetralogy of fallot, dextro-transposition of the great arteries, atrial septal defect, aortic coarctation, patent ductus arteriosus, pulmonary stenosis, and pacemaker insertion, which were 1.58, 1.03, 1.54, 1.66, 0.77, 0, 1.25, and 0 unit, respectively, and the figures were rounded up. Accurate MSBOS protocols reduce cross-match workload in laboratories, lead to the appropriate use of blood stocks with less wastage, save human and economic resources, and eventually, promote patient safety.

Fate After the Mustard Procedure for d-Transposition of the Great Arteries: Impact of Age, Complexity, and Atrial Tachyarrhythmias: A Single Center Experience

Patients with dextro transposition of the great arteries (d-TGA) after atrial switch procedure are at risk to develop heart failure and arrhythmias during long-term follow-up. The present study aims to add knowledge on the fate of subjects after Mustard procedure during long-term follow-up into adulthood. A single center, retrospective chart review analysis was conducted. All subjects who had Mustard-type atrial switch procedure between 1969 and 1994 at our institution were included. A total of 92 subjects were included. Early postoperative death was reported in 2 subjects. Long-term follow-up was available in 49 survivors. Of those, 6 individuals died during further follow-up. Sudden cardiac death was the most prevalent cause for fatal outcome. Mortality during long-term follow-up was associated with the presence of additional cardiovascular malformations (complex d-TGA). Sinus node dysfunction was observed in 65% of the patients and atrial tachyarrhythmias were common in adult survivors (63%). Implantation of a pacemaker or a cardioverter defibrillator was required in 31% and 45% of those surviving into adulthood. Complications were frequently observed during follow-up after either pacemaker or cardioverter defibrillator implantation (43%) with lead failure being the most frequent complication. The aging population of patients after Mustard procedure is facing challenging problems mainly resulting from a failing systemic right ventricle, presence of associated cardiac malformations and the presence of atrial baffles associated with relevant atrial scars. Age, associated cardiac malformations, and atrial tachyarrhythmias seem to play a major role in determining the fate of patients with d-TGA after atrial switch procedures.

Arrhythmias and Clinical Outcomes in a Swiss Multicenter Cohort of Patients With Dextro-Transposition of the Great Arteries and Atrial Switch.

Background Data on the incidence of arrhythmias, associated cardiac interventions, and outcome in patients with dextro-transposition of the great arteries and atrial switch are scarce. Methods and Results In this multicenter analysis, we included adult patients with dextro-transposition of the great arteries and atrial switch regularly followed up at 3 Swiss tertiary care hospitals. The primary outcome was a composite of left ventricular assist device, heart transplantation, and death. The secondary outcome was occurrence of ventricular tachycardia, ventricular fibrillation, or sudden cardiac death. We identified 207 patients (34% women; median age at last follow-up, 35 years) with dextro-transposition of the great arteries and atrial switch. Arrhythmias occurred in 97 patients (47%) at a median age of 22 years. A pacemaker or an implantable cardioverter-defibrillator was implanted in 39 (19%) and 13 (6%) patients, respectively, and 33 (16%) patients underwent a total of 51 ablation procedures to target 60 intra-atrial re-entry tachycardias, 4 atrioventricular nodal re-entry tachycardias, and 1 atrial fibrillation. The primary outcome occurred in 21 patients (10%), and the secondary outcome occurred in 18 patients (9%); both were more common in patients with concomitant ventricular septum defect than in those without (hazard ratio [HR], 3.06 [95% CI, 1.29-7.27], P=0.011; and HR, 3.62 [95% CI, 1.43-9.18], P=0.007, respectively). Conclusions In patients with dextro-transposition of the great arteries and atrial switch reaching adulthood, arrhythmias occur in almost half of patients, and associated rhythm interventions are frequent. One-tenth of those patients do not survive until the age of 35 years free from left ventricular assist device or heart transplantation, and the outcome is worse in patients with concomitant ventricular septum defect.

The world upside down - after 20 years of follow-up of dextro-transposition of the great arteries.

Dextro-transposition of the great arteries (D-TGA) is a congenital heart disease (CHD) classically palliated with atrial switch (ATR-S) and nowadays corrected with arterial switch (ART-S). Our aim was to observe a group of D-TGA patients followed in an adult CHD outpatient clinic. We analyzed a group of D-TGA patients born between 1974 and 2001. Adverse events were defined as a composite of death, stroke, myocardial infarction or coronary revascularization, arrhythmia, and ventricular, baffle, or significative valvular dysfunction. A total of 79 patients were enrolled, 46% of whom were female, with a mean follow-up of 27±6 years after surgery. ATR-S was performed in 54% and ART-S in 46%; the median age at procedure was 13 months and 10 days, respectively. During follow-up, almost all ART-S remained in sinus rhythm versus 64% of ATR-S (p=0.002). The latter group had a higher incidence of arrhythmias (41% versus 3%, p<0.001), mostly atrial flutter or fibrillation; the median time to first arrhythmia was 23 years. Systemic ventricle systolic dysfunction (SVSD) was more frequent in ATR-S (41% versus 0%, p<0.001); the mean time to SVSD was 25 years. In ART-S, the most frequent complication was significant valvular regurgitation (14%). Regarding time-to-event analysis, 80% and 40% of ATR-S maintained adverse events-free after 20 and 30 years, respectively; the time-to-first adverse event was 23 years, and there was no difference compared to ART-S (Log-rank=0.596). ART-S tended to maintain more preserved biventricular function than ATR-S (Log-rank=0.055). After a long term free of adverse events, ATR-S patients experienced more arrhythmias and SVSD. ART-S complications were predominantly anastomosis-related; SVSD or arrhythmias were rare.

D-Transposition of the great arteries with restrictive foramen ovale in the fetus: the dilemma of predicting the need for postnatal urgent balloon atrial septostomy

ObjectiveRestrictive foramen ovale (FO) in dextro-transposition of the great arteries (d-TGA) with intact ventricular septum may lead to severe life-threatening hypoxia within the first hours of life, making urgent balloon atrial septostomy (BAS) inevitable. Reliable prenatal prediction of restrictive FO is crucial in these cases. However, current prenatal echocardiographic markers show low predictive value, and prenatal prediction often fails with fatal consequences for a subset of newborns. In this study, we described our experience and aimed to identify reliable predictive markers for BAS.MethodsWe included 45 fetuses with isolated d-TGA that were diagnosed and delivered between 2010 and 2022 in two large German tertiary referral centers. Inclusion criteria were the availability of former prenatal ultrasound reports, of stored echocardiographic videos and still images, which had to be obtained within the last 14 days prior to delivery and that were of sufficient quality for retrospective re-analysis. Cardiac parameters were retrospectively assessed and their predictive value was evaluated.ResultsAmong the 45 included fetuses with d-TGA, 22 neonates had restrictive FO postnatally and required urgent BAS within the first 24 h of life. In contrast, 23 neonates had normal FO anatomy, but 4 of them unexpectedly showed inadequate interatrial mixing despite their normal FO anatomy, rapidly developed hypoxia and also required urgent BAS (‘bad mixer’). Overall, 26 (58%) neonates required urgent BAS, whereas 19 (42%) achieved good O2 saturation and did not undergo urgent BAS. In the former prenatal ultrasound reports, restrictive FO with subsequent urgent BAS was correctly predicted in 11 of 22 cases (50% sensitivity), whereas a normal FO anatomy was correctly predicted in 19 of 23 cases (83% specificity). After current re-analysis of the stored videos and images, we identified three highly significant markers for restrictive FO: a FO diameter < 7 mm (p < 0.01), a fixed (p = 0.035) and a hypermobile (p = 0.014) FO flap. The maximum systolic flow velocities in the pulmonary veins were also significantly increased in restrictive FO (p = 0.021), but no cut-off value to reliably predict restrictive FO could be identified. If the above markers are applied, all 22 cases with restrictive FO and all 23 cases with normal FO anatomy could correctly be predicted (100% positive predictive value). Correct prediction of urgent BAS also succeeded in all 22 cases with restrictive FO (100% PPV), but naturally failed in 4 of the 23 cases with correctly predicted normal FO (‘bad mixer’) (82.6% negative predictive value).ConclusionPrecise assessment of FO size and FO flap motility allows a reliable prenatal prediction of both restrictive and normal FO anatomy postnatally. Prediction of likelihood of urgent BAS also succeeds reliably in all fetuses with restrictive FO, but identification of the small subset of fetuses that also requires urgent BAS despite their normal FO anatomy fails, because the ability of sufficient postnatal interatrial mixing cannot be predicted prenatally. Therefore, all fetuses with prenatally diagnosed d-TGA should always be delivered in a tertiary center with cardiac catheter stand-by, allowing BAS within the first 24 h after birth, regardless of their predicted FO anatomy.

Incidence and clinical predictors of early and late complications of implantable cardioverter-defibrillators in adults with congenital heart disease.

The Implantable cardioverter-defibrillator (ICD) has been proven to improve survival in adults with congenital heart disease (ACHD), however it is associated with a high rate of complications. We aimed to quantify the incidence of early (≤3 months) and late (>3 months) complications (EC, LC) in ACHD patients implanted with an ICD and identify their clinical predictors. We retrospectively reviewed 207 patients who had ICD follow-up at Toronto General Hospital between 1996 and 2019. Most common diagnoses were Tetralogy of Fallot (32.4%), dextro-transposition of the great arteries (17.9%), congenital corrected transposition of the great arteries (13%). No intraprocedural complications were observed. Median follow up was 3.4 years (0.1-23). 24 patients (12%) developed EC (4 hematomas, 20 lead dislodgments). A total of 56 LC occurred (46% lead failure, 21% infection, 11% prophylactic lead extraction, 9% neurologic pain, 9% erosion, 4% other) with an incidence rate of LC of 18% per 5 person-years. Anatomic complexity (odds ratio 2.9,p=0.02) and CRTD implant(OR 2.5,p=0.04) were associated with EC. Survival free from LC was 92%, 86%, 65% respectively after 1,5 and 10 years. Presence of legacy leads (hazard ratio 2.9,p=0.006) and subpulmonary ejection fraction (5% increase, HR 1.35,p=0.031) were associated with LC. ACHD patients at risk of SCD continue to benefit from newer device technology. However, these patients-particularly those with greater anatomic and device complexity-remain at increased risk of developing complications over their lifetime. Given the life expectancy of this population, careful consideration needs to be given when a device for primary prevention is being contemplated.

Pericardial Effusions After the Arterial Switch Operation: A PHIS Database Review

Background: Pericardial effusion (PCE) is a significant complication after pediatric cardiac surgery. This study investigates PCE development after the arterial switch operation (ASO) and its short-term and longitudinal impacts. Methods: A retrospective review of the Pediatric Health Information System database. Patients with dextro-transposition of the great arteries who underwent ASO from January 1, 2004, to March 31, 2022, were identified. Patients with and without PCE were analyzed with descriptive, univariate, and multivariable regression statistics. Results: There were 4896 patients identified with 300 (6.1%) diagnosed with PCE. Thirty-five (11.7%) with PCE underwent pericardiocentesis. There were no differences in background demographics or concomitant procedures between those who developed PCE and those who did not. Patients who developed PCE more frequently had acute renal failure (N = 56 (18.7%) vs N = 603(13.1%), P = .006), pleural effusions (N = 46 (15.3%) vs N = 441 (9.6%), P = .001), mechanical circulatory support (N = 26 (8.7%) vs N = 199 (4.3%), P < .001), and had longer postoperative length of stay (15 [11-24.5] vs 13 [IQR: 9-20] days). After adjustment for additional factors, pleural effusions (OR = 1.7 [95% CI: 1.2-2.4]), and mechanical circulatory support (OR = 1.81 [95% CI: 1.15-2.85]) conferred higher odds of PCE. There were 2298 total readmissions, of which 46 (2%) had PCE, with no difference in median readmission rate for patients diagnosed with PCE at index hospitalization (median 0 [IQR: 0-1] vs 0 [IQR: 0-0], P = .208). Conclusions: PCE occurred after 6.1% of ASO and was associated with pleural effusions and mechanical circulatory support. PCE is associated with morbidity and prolonged length of stay; however, there was no association with in-hospital mortality or readmissions.

Incidence of acute kidney injury in infants with dextrotransposition of the great arteries after arterial switch operation (an observational cohort single-center study)

Incidence of acute kidney injury in infants with dextrotransposition of the great arteries after arterial switch operation (an observational cohort single-center study)

Balloon Atrial Septostomy: Does the Balloon Size Matter?

Dextro-transposition of the great arteries is a congenital heart defect with eventually lethal life-threatening consequences of hypoxic low cardiac output. When a balloon atrial septostomy (BAS) is needed, it is performed shortly after birth to create an interatrial shunt and improve systemic blood oxygenation and haemodynamic conditions. In 2019 and 2020, the withdrawal of some balloon atrioseptostomy catheters from the market led to increased use of catheters with different materials, shapes, and sizes. The main objective of this study was to investigate whether the size of the Miller and Fogarty balloon (Edwards Lifesciences) in its 2 variations, the 4.0 cc and the 1.8 cc, had a different impact on the systemic oxygen saturation, on the atrial septal defect (ASD) size, or on the type and frequency of procedure-related complications. We conducted a retrospective study on 134 consecutive patients diagnosed with dextrotransposition of the great arteries between 2002 and 2018 who underwent BAS in a tertiary paediatric hospital in Canada. BAS resulted in a significant increase in oxygen saturation of 18.91% ± 12.95% points (P < 0.0001) and a significant increase in the resulting ASD by 3.92 ± 1.58 mm (P < 0.0001). There was no significant difference in resulting oxygen saturation (P= 0.8370) or the final ASD size (P= 0.2193) based on the balloon size. Severe or life-threatening complications were rare (1%) with no subsequent patient demise. This is the first study to show that the small balloon is as efficient as the large balloon catheter including in premature patients. This raises the question whether different balloon sizes are necessary.

Successful completion of Senning surgery in a patient with dextro-transposition of the great arteries (DTGA) with presentation in the fourth decade.

Transposition of great arteries (TGA) is a common congenital heart disease presenting in newborns. Nearly 90% of patients with TGA with intact interventricular septum die by one year of age if not treated. We present an interesting case of The Senning procedure , which was successfully performed on a 40-year-old lady.

Early Cerebrovascular Autoregulation in Neonates with Congenital Heart Disease.

Neonates with congenital heart disease (CHD) display delayed brain development, predisposing them to impaired cerebrovascular autoregulation (CAR) and ischemic brain injury. For this paper, we analyzed the percentage of time with impaired CAR (%time impaired CAR) during the first 72 h after birth, the relation with clinical factors, and survival in 57 neonates with CHD. The primary outcome was a correlation coefficient of cerebral oxygenation (rcSO2) and mean arterial blood pressure (MABP, mmHg) for two hours on a daily basis. The %time impaired CAR ranged from 9.3% of the studied time on day one to 4.6% on day three. Variables associated with more %time impaired CAR were the use of inotropes (day 1, B = 19.5, 95%CI = 10.6-28.3; day 3, B = 11.5, 95%CI = 7.1-16), lower MABP (day 1, B = -0.6, 95%CI = -1.2-0.0), and dextro-transposition of the great arteries (dTGA) (16.2%) compared with other CHD types (2.0-5.0%; day 1, p = 0.022). Survival was not an associated variable. To summarize, impaired CAR was found in CHD neonates in up to 9.3% of the studied time. More evidence is necessary to evaluate an association with inotropes, dTGA, %time impaired CAR, and long-term outcome, further in larger cohorts.

9 Congenital Heart Disease and Autism Spectrum Disorders: Is There a Link?

Abstract Background Congenital heart disease (CHD) has been linked to an increased incidence of intellectual disability and neurodevelopmental impairments in young patients. The relationship between CHD and autism spectrum disorders (ASD) is not well investigated. Objectives We performed a systematic review and meta-analysis of the medical literature to assess the evidence linking CHD to incidence of ASD. Design/Methods A systematic review of studies on CHD and ASD in PubMed, Cochrane and ISI from 1965 to May 2021 was conducted. Only retrospective or prospective cohort, case-control and cross-sectional human studies in the English language were included. Quantitative estimates of association between CHD and ASD were extracted from eligible studies for the meta-analysis. Pooled estimates were obtained using a random effect models fit by a generalised linear mixed model. Quantitative results not included in the meta-analysis were summarized using descriptive statistics. Results We screened 2,709 articles and 24 articles were included in this review. Among the 24 studies, there was a total of 348,771 subjects (12,114 CHD, 9,829 ASD and 326,828 controls). Patient age (range of 0 to 26 years) was reported in all studies. The proportion of males in CHD, ASD and controls were 50%, 80%, and 55%. CHD diagnosis ranged from non-specific (9/16), single ventricle lesion (2/16), dextro-transposition of the great arteries (2/16), and tetralogy of Fallot (1/16). Overall, seven articles reported a 4.66 times increase in the percentage of ASD cases in patients with CHD compared to the percentage of ASD cases in the general population: (5.87% vs 1.14% of ASD cases in CHD vs the general population). Seven of 24 studies were eligible for the meta-analysis, which included information on a total of 250,611 subjects (3,984 CHD, 9,829 ASD, and 236,798 controls). The summary estimate indicated that CHD patients are associated with almost double the odds of being diagnosed with autism compared with non-CHD patients: (OR 1.99, 95% CI 1.77-2.24, p&amp;lt;0.01). Early developmental delay, perinatal factors, genetics and neurological development were potential risk factors and etiologies for the onset of ASD in CHD patients. Suggestions for improvement of future clinical care include early identification and treatment of ASD among the CHD population. Limitations of this study include few articles explicitly exploring the link between CHD and ASD and lack of standardized ASD endpoints. Conclusion This review outlines that CHD patients are at an increased risk of presenting with a diagnosis or symptoms suggestive of ASD.

The mitral annulus in transposition of the great arteries late after Senning- and Mustard-procedures (Insights from the CSONGRAD Registry and MAGYAR-Path Study).

Dextro-transposition of the great arteries (dTGA) is a rare condition comprising 5-7% of all congenital heart diseases (CHD). Until 1990s, atrial switch operations were the method of choice for the treatment of dTGA. The aim of our present study was to evaluate the abnormalities of the mitral annulus (MA) by three-dimensional speckle-tracking echocardiography (3DSTE). Potential differences in MA dimensions and functional properties late after Senning- and Mustard-procedures were analyzed as well. This retrospective cohort study comprised 19 dTGA patients late after atrial switch operation, from which 7 subjects were not involved due to inferior image quality. The remaining dTGA patient group comprised 12 subjects (age: 30.7±8.6 years, 7 males). For comparisons, 32 age- and gender-matched healthy controls were evaluated (age: 34.4±12.3 years, 18 males). End-systolic and end-diastolic MA diameter (MAD), area and perimeter proved to be increased, while MA functional parameters [MA fractional area change (MAFAC) and fractional shortening (MAFS)] were reduced in all dTGA patients as compared to matched controls regardless of the atrial switch procedure used. However, MA morphological parameters were tendentiously lower, while MA functional parameters were tendentiously favorable in case of Senning-procedure compared to Mustard-procedure. dTGA is accompanied by MA dilation and its functional impairment late after Senning- and Mustard-procedures.

Left ventricular rotational abnormalities in patients with transposition of the great arteries late after atrial switch operation: detailed analysis from the CSONGRAD Registry and MAGYAR-Path Study.

Dextro-transposition of the great arteries (dTGA) is one of the most common cyanotic congenital heart defects, when the origins of the main arteries are switched in position. The present retrospective cohort study aimed three-dimensional speckle-tracking echocardiography-derived determination of apical and basal morphologic left ventricular (mLV) rotations and twist in adults with dTGA late after atrial switch. It was also purposed to compare whether differences in mLV rotational parameters were present in Senning- and Mustard-operated subjects. Sixteen dTGA patients were willing to participate late after atrial switch in this study, however, 6 subjects were excluded due to inferior image quality. The remaining group of 10 dTGA patients had a mean age of 29.4±8.8 years (5 males). Their clinical data were from the CSONGRAD Registry. Their results were compared to 24 age- and gender-matched healthy controls with a mean age of 34.4±12.6 years (14 males). From the dTGA patient population, only 5 out of 10 subjects had normally directed mLV rotational mechanics, 5 dTGA cases had significant mLV rotational abnormality with counterclockwise mLV basal rotation in 4 patients (mLV rigid body rotation, mLV-RBR). One patient had complete reversal of apical and basal mLV rotations. Compared to the matched healthy controls, dTGA patients showed mLV-RBR significantly more frequently (50% vs. 0%, P=0.0009) regardless of the fact whether Senning- or Mustard-procedure was performed. dTGA patients with normally directed mLV rotational mechanics proved to have increased mLV basal rotation (-7.9±4.1 vs. -3.7±1.9 degree, P=0.001) with preserved mLV twist (16.4±3.3 vs. 14.0±4.1 degree, P=ns) as compared to matched controls. Significant mLV rotational abnormalities are present in dTGA late after atrial switch procedures including mLV-RBR and reversed mLV twist. In dTGA patients with normally directed mLV rotational mechanics, mLV basal rotation is increased with preserved mLV twist. Some differences in mLV rotational abnormalities are present between Senning- and Mustard-procedures.

Being Overweight Is Related to Neoaortic Sinus Dilatation After Arterial Switch Operation.

Neoaortic sinus dilatation is a late comorbidity after an arterial switch operation in patients with dextro-transposition of the great arteries. We aim to explore whether neoaortic sinus dilatation is related to overweight or obesity, as these affect aortic remodeling in such patients. We measured neoaortic diameters including those for the annulus, sinus, sinotubular junction, and ascending aorta by echocardiography and studied the relationship between these diameters and body mass index in patients aged 15 years and older after an arterial switch operation. A total of 45 patients were studied. Median (interquartile range) age, body mass index, and systolic blood pressure at echocardiography were 20 (17-28) years, 21.2 (18.4-24.2) kg/m2, and 120 (112-127) mm Hg, respectively. Echocardiogram revealed the following median values (interquartile ranges): neoaortic annulus diameter, 22.2 (19.8-23.8) mm; sinus diameter, 34.6 (31.8-39.8) mm; sinotubular junction diameter, 27.5 (22.4-30.0) mm; and ascending aortic diameter, 20.4 (19.4-22.7) mm. The neoaortic sinus diameter was significantly correlated with body mass index (r = 0.41, P = .004) and was significantly larger in patients with concomitant ventricular septal defect (P &lt; .001) and those who were over-weight (body mass index ≥25 kg/m2; P = .006). Neoaortic sinus dilatation after an arterial switch operation is associated with being overweight during adolescence and young adulthood. It is important to prevent obesity in patients after an arterial switch operation and educate them on a healthy lifestyle.