Simple Congenital Heart Defects Research Articles

Therapeutic effects of treat and repair strategy in pediatric patients with pulmonary arterial hypertension and simple congenital heart defects.

Surgical indications for patients with pulmonary arterial hypertension (PAH) and congenital heart defects are controversial. The treat and repair strategy has demonstrated efficacy in adult populations, but there have been no studies on pediatric patients. This study included pediatric patients with PAH and simple congenital heart defects who underwent corrective repair between 2012 and 2021. According to the preoperative treatment strategies, the patients were divided into a regular strategy group (Group 1) and a treat-and-repair strategy group (Group 2). Postoperative recovery and follow-up results were compared between the two groups. A total of 33 patients were included in this study. Group 1 consisted of 19 patients, whereas Group 2 consisted of 14 patients. The pulmonary vascular resistance index in Group 2 was higher than that in Group 1 (10.9 ± 4.1 vs. 8.2 ± 1.6 WU, p = 0.031). There were no differences in postoperative recovery between the two groups (p > 0.05). During follow-up, five patients were lost (three in Group 1 and two in Group 2). The median follow-up period was 59 months. One patient died in Group 1, and two patients died in Group 2. There was no significant difference in the survival curve (p = 0.39). At the last follow-up, another seven patients had experienced a non-low-risk condition, with a total of three non-low-risk patients in Group 1 and seven in Group 2, including one patient in each group who had a history of ICU admission. According to the ROC curve, a preoperative PVRi <8.2 WU×m2 can predict postoperative persistent low-risk state, PVRi <5.2 WU×m2 can avoid postoperative death and/or ICU administration. In pediatric patients with PAH and simple congenital heart defects, the treat and repair strategies may provide surgery opportunities, PVRi should be <8 WU×m2, and <5.2 WU×m2 is the best choice.

Minimally Invasive Surgery for Simple Congenital Heart Defects: Preserving Aesthetics without Jeopardizing Patient Safety.

Minimally invasive surgeries for pediatric patients have been proposed for decades, with different approaches in mind. Minimal right axillary thoracotomy (MRAT), proposed two decades ago, allows the preservation of patients' safety alongside faster aesthetic and functional recovery. The MRAT did not become widely adopted due to the prejudice that to follow a minimally invasive approach, safety and efficacy must be compromised. With this study, we aim to compare MRAT to the standard median sternotomy approach with a focus on safety and clinical outcomes. Between January 2017 and April 2021, 216 patients diagnosed with ASD, pAVSD, or PAPVD underwent surgical repair with different approaches in the same period. MRAT was used for 78 patients, and median sternotomy was used for 138 patients. In this last group, standard median sternotomy (SMS) was used for 116 patients, while a minimal skin incision (SMS mini) was used for 22 patients. There were no major complications overall nor in each specific approach. MRAT enabled the successful repair of simple heart defects, providing similar post-operative and cardiological recovery. MRAT does not compromise patients' safety and does not prolong the duration of surgery once the learning curve is overcome, which is generally after 15-20 consecutive operations.

Self- and proxy-reported impaired social interaction in young adults with simple congenital heart defects.

Simple Congenital Heart Defects such as septal defects constitute a large proportion of Congenital Heart Defects. New research has demonstrated more co-morbidities than previously thought. In particular, co-morbidities involving neurocognitive, psychiatric, and social difficulties have been described. Neurocognitive and psychiatric morbidities affect social interaction. Social interaction is important in everyday social life (education, work life, family life). In this study, we investigated social interaction through self- and proxy-answered Social Responsiveness Scale 2 (SRS-2) in young adults with simple Congenital Heart Defects and compared their social interaction profile to healthy matched controls. We included a total of 80 patients with either atrial or ventricular septal defect (age 26.6 years) and 38 heart-healthy, age, sex, and ISCED educational matched controls (age: 25.3 years). A close relative proxy from each participant took part in the study as well. All participants answered the Social Responsiveness Scale 2 (SRS-2) (n = 225). Our primary and secondary outcomes were the SRS-2 Total score and the SRS-2 sub-scores. In the Congenital Heart Defects group, 31.3% had a Total score above 60 compared to 7.9% in the control group (p = 0.005, RR = 3.96). The participants with a septal defect had a higher Total score (52.5 vs. 45.5, p = 0.004), a higher Social Cognition sub-score (55.0 vs. 47.0, p = 0.0004), and a higher Social Motivation sub-score (50.0 vs. 45.0, p = 0.003) than the heart-healthy participants. We found no difference between the two groups regarding the sub-scores of Social Awareness and Social Communication. A multiple linear regression model showed that the variable that explained most of the variation in Total Score was having a previously diagnosed psychiatric disorder. We found that young adults with atrial or ventricular septal defects have a fourfold increased risk of social interaction difficulties compared to heart-healthy peers. They have a social interaction profile, with difficulties in social cognition and social motivation, and preserved social awareness and social communication. Psychiatric morbidity explained most of the variation in social interaction problems. As social difficulties and psychiatric morbidities are intertwined, social interaction difficulties could be an indication of already underlying psychiatric morbidities or a risk factor for future psychiatric morbidity.

Effective and aesthetic results of horizontal right axillary minithoracotomy for congenital heart defects repair in children

Background: horizontal right axillary minithoracotomy is one of the treatment options for many simple congenital heart defects. This approach shows many aesthetic advantages besides effectiveness and safety. This study aims to: comment on the technical characteristics and early results of horizontal right axillary minithoracotomy in children at Hanoi Heart Hospital.&#x0D; Methods: a descriptive cross-sectional study. We retrospectively reviewed 156 patients who underwent horizontal right axillary minithoracotomy at Hanoi Heart Hospital from January 2022 to December 2022.&#x0D; Results: horizontal axillary approach could be applied even for children with low weight, average weight was 12.22 ± 8.67 kg, the lowest was 2.6 kg and the highest was 51.0 kg. A wide range of congenital heart defects were repaired, including ventricular septal defect closure (84 patients), secundum atrial septal defect closure (22 patients), ventricular septal defect with stenosis repair (31 patients), partial atrio-ventricular septal canal repair (6 patients), repair of atrial septal defect with partial abnormal return of the pulmonary veins (3 patients), repair of ventricular septal defect and atrial septal defect (4 patients), Cor triatriatum sinister repair (4 patients), mitral valve repair (1 patient), atrial septal defect and pulmonary valve stenosis repair (1 patient). Cannulation of the aorta and vena cavae was performed through the main incision, whose size ranged from 3.5 to 5.5cm. The average postoperative hospital stay was 7.34 ± 2.16 days, the rate of severe complications and hospital mortality were 0%.&#x0D; Conclusion: horizontal right axillary minithoracotomy was a good approach to correct many simple congenital heart defects in children. This technique is being applied at Hanoi Heart Hospital safely and provided outstanding advantages in terms of aesthetics.

Nationwide Survey Reveals High Prevalence of Non-Swimmers among Children with Congenital Heart Defects.

Physical activity is important for children with congenital heart defects (CHD), not only for somatic health, but also for neurologic, emotional, and psychosocial development. Swimming is a popular endurance sport which is in general suitable for most children with CHD. Since we have previously shown that children with CHD are less frequently physically active than their healthy peers, we hypothesized that the prevalence of non-swimmers is higher in CHD patients than in healthy children. To obtain representative data, we performed a nationwide survey in collaboration with the German National Register of Congenital Heart Defects (NRCHD) and the Institute for Sport Sciences of the Karlsruhe Institute for Technology (KIT). The questionnaire included questions capturing the prevalence of swimming skills and the timing of swim learning and was part of the "Motorik-Modul" (MoMo) from the German Health Interview and Examination Survey for Children and Adolescents (KiGGS). A representative age-matched subset of 4569 participants of the MoMo wave two study served as a healthy control group. From 894 CHD-patients (mean age of 12.5 ± 3.1 years), the proportion of non-swimmers in children with CHD was significantly higher (16% versus 4.3%; p < 0.001) compared to healthy children and was dependent on CHD severity: Children with complex CHD had an almost five-fold increased risk (20.4%) of being unable to swim, whereas in children with simple CHD, the ability to swim did not differ significantly from their healthy reference group (5.6% vs. 4.3% non-swimmers (p = not significant). According to our results, one in five patients with complex CHD are non-swimmers, a situation that is concerning in regard of motoric development, inclusion and integration, as well as prevention of drowning accidents. Implementation of swim learning interventions for children with CHD would be a reasonable approach.

Physical Self-Concept and Physical Activity in Children with Congenital Heart Defects-Can We Point Out Differences to Healthy Children to Promote Physical Activity?

Children with congenital heart defects (CHD) are at high risk for cardiovascular disease in addition to their congenital disease, so it is important to motivate this group of patients to live a physically active lifestyle. A potential influencing determinant of younger children's physical performance is the physical self-concept. The objective of the present study was first to evaluate the correlation between the physical self-concept (PSC) and the participation in physical activities (PA) of a representative group of children with congenital heart disease (CHD), and second to point out differences in comparison to their healthy peer group. Using the database of PA of the S-BAHn-Study we focused on physical self-concept assessed by the German version of the Physical Self-Description Questionnaire. We compare the obtained data of children with CHD to a representative age-matched sample of 3.385 participants of the Motorik Modul Study. N = 1.198 complete datasets could be included in the analyses. The mean age of patients was 11.6 ± 3.1 years. For the total cohort of patients with CHD and the reference group, PA correlated significantly with a positive PSC (p < 0.001). PA was significantly reduced in all groups of patients despite the severity of their heart defect (p < 0.001). Remarkably, PSC did not differ statistically significantly in patients with simple CHD from the reference collective (p > 0.24). According to this representative survey, there is a clear relation between PA and PSC in the cohort of healthy children and the group of children with CHD throughout the severity of their heart defects. Although PSC did not differ in patients with simple CHD and their healthy peer group, PA was significantly reduced. This gap invites us to reflect on how we could break new ground to promote a physically active lifestyle in children with CHD regardless of the severity of their cardiac defects.

Increased nuchal translucency in children with congenital heart defects and normal karyotype-is there a correlation with mortality?

Our objective was to investigate if an increased nuchal translucency (NT) was associated with higher mortality in chromosomally normal children with congenital heart defects (CHD). In a nationwide cohort using population-based registers, we identified 5,633 liveborn children in Denmark with a pre- or postnatal diagnosis of CHD from 2008 to 2018 (incidence of CHD 0.7%). Children with chromosomal abnormalities and non-singletons were excluded. The final cohort compromised 4,469 children. An increased NT was defined as NT > 95th-centile. Children with a NT > 95th-centile vs. NT < 95th-centile including subgroups of simple- and complex CHD were compared. Mortality was defined as death from natural causes, and mortalities were compared among groups. Survival analysis with Cox-regression was used to compare rates of mortality. Analyses were adjusted for mediators (possibly explanatory factors between increased NT and higher mortality): preeclampsia, preterm birth and small for gestational age. And for confounding effects of extracardiac anomalies and cardiac intervention, due to their close association to both the exposure and the outcome (i.e., confounders). Of the 4,469 children with CHD, 754 (17%) had complex CHD and 3,715 (83%) simple CHD. In the combined group of CHDs the mortality rate was not increased when comparing those with a NT > 95th-centile to those with a NT < 95th-centile [Hazard ratio (HR) 1.6, 95%CI 0.8;3.4, p = 0.2]. In simple CHD there was a significantly higher mortality rate with a HR of 3.2 (95%CI: 1.1;9.2, p = 0.03) when having a NT > 95th centile. Complex CHD had no differences in mortality rate between a NT > 95th-centile and NT < 95th-centile (HR 1.1, 95%CI: 0.4;3.2, p = 0.8). All analysis adjusted for severity of CHD, cardiac operation and extracardiac anomalies. Due to limited numbers the association to mortality for a NT > 99th centile (>3.5 mm) could not be assessed. Adjustment for mediating (preeclampsia, preterm birth, small for gestational age) and confounding variables (extracardiac anomalies, cardiac intervention) did not alter the associations significantly, except for extracardiac anomalies in simple CHD. An increased NT > 95th-centile is correlated with higher mortality in children with simple CHD, but the underlying cause is unknown and undetected abnormal genetics might explain the correlation rather than the increased NT itself, hence further research is warranted.

Influenza vaccination during pregnancy and risk of selected major structural congenital heart defects, National Birth Defects Prevention Study 2006-2011.

Although results from studies of first-trimester influenza vaccination and congenital heart defects (CHDs) have been reassuring, data are limited for specific CHDs. We assessed associations between reported maternal influenza vaccination, 1 month before pregnancy (B1) through end of third pregnancy month (P3), and specific CHDs using data from a multisite, population-based case-control study. Analysis included 2,982 case children diagnosed with a simple CHD (no other cardiac involvement with or without extracardiac defects) and 4,937 control children without a birth defect with estimated delivery dates during 2006-2011. For defects with ≥5 exposed case children, we used logistic regression to estimate propensity score-adjusted odds ratios (aORs) and 95% confidence intervals (CIs), adjusting for estimated delivery year and season; plurality; and maternal age at delivery, race/ethnicity, low folate intake, and smoking and alcohol use during B1P3. Overall, 124 (4.2%) simple CHD case mothers and 197 (4.0%) control mothers reported influenza vaccination from 1 month before through the third pregnancy month. The aOR for any simple CHD was 0.97 (95% CI: 0.76-1.23). Adjusted ORs for specific simple CHDs ranged from 0.62 for hypoplastic left heart syndrome to 2.34 for total anomalous pulmonary venous return (TAPVR). All adjusted CIs included the null except for TAPVR. Although we cannot fully exclude that exposure misclassification may have masked risks for some CHDs, findings add to existing evidence supporting the safety of inactivated influenza vaccination during pregnancy. The TAPVR result may be due to chance, but it may help inform future studies.

Therapeutic hypothermia for encephalopathic newborns with congenital heart defect: A cross-sectional survey on current practices and opinions in Germany.

BackgroundTherapeutic hypothermia (TH) reduces neonatal mortality and long-term neurodevelopmental impairment in infants with moderate-to-severe hypoxic-ischemic encephalopathy (HIE) caused by perinatal asphyxia. There is an increasing trend to apply TH in other indications and populations, such as infants with mild HIE or neonates with congenital heart defects (CHD), even though there is little evidence to support or refute this.ObjectiveThe aim of this survey was to analyze practice variations with respect to TH use in neonates with CHD and to assess expert opinions on this topic across tertiary neonatal departments in Germany.Methods/DesignA web-based survey was sent to all tertiary neonatal departments in Germany. The questionnaire contained 32 multiple-choice questions. The survey inquired current practices on TH in newborns with CHD and expert opinions on various clinical scenarios.Main resultsA total 80 (51.3%) neonatal departments partially completed the survey, and 69 (44.2%) respondents filled out the whole questionnaire. All 80 (100.0%) departments perform TH. TH is offered by 76 (95.0%) respondents to encephalopathic newborns with simple CHD. In infants with critical/complex CHD, TH is offered after perinatal asphyxial HIE and in newborns with encephalopathy after severe acidosis associated with cardiac complications by 25 (31.3%), or 17 (22.1%) respondents, respectively, whereas a clear majority of centers reject TH in these infants. Unclear effects of TH on any ongoing prostaglandin therapy (57.6 and 52.3%, respectively), an increased risk for adverse reactions during TH (51.6 and 52.3%, respectively) and lack of evidence (33.3 and 53.8%, respectively) are the most frequently cited reasons for not performing TH in these infants. The majority of experts from neonatal departments providing comprehensive care for neonates with severe CHD support the initiation of TH in encephalopathic neonates.DiscussionThe considerable heterogeneity in the use of TH in neonates with CHD emphasizes the need for further research to optimize treatment strategies for these patients.

Pediatric Diastolic Heart Failure: Clinical Features Description of 421 Cases.

Background and AimHeart failure in children differs substantially from the adult population. Clinical characteristics of pediatric diastolic heart failure has rarely been reported. In this study, we aimed to summary the causes, clinical features, lab tests, and treatment effect of pediatric diastolic heart failure.MethodsThis study was a single center, retrospective study conducted in Children’s Hospital of Chongqing Medical University. Children who were diagnosed with diastolic heart failure (DHF) without systolic heart failure (SHF) between 2006 and 2014 were included. Meanwhile, SHF (without DHF) cases were also collected from 2013 to 2014.ResultsA total of 421 DHF and 42 SHF cases were included. The average age of pediatric DHF was 1.89 ± 3.29 years old, significant younger than that of SHF (4.65 ± 4.90). The top three cardiovascular causes of DHF were complex congenital heart malformations (53.4%), simple congenital heart defect (15.7%), and cardiomyopathy (7.4%). Alternatively, number of cardiomyopathy cases (57.1%) ranked first in SHF group. Simple congenital heart diseases (CHDs) rarely caused SHF. The most common symptom and sign were tachypnea and hepatomegaly in pediatric HF. Symptoms like cyanosis, feeding difficulty, be fidgety, pale, fatigue, and edema were valuable in differential diagnosis of DHF and SHF in children. B-type natriuretic peptide (BNP) increase was found in 36.9% of DHF children, and 60% in SHF patients. Sensitivity of BNP greater than 100 pg/ml in diagnosis of DHF was 0.37, and specificity of it was 0.86. Diastolic function indicators, such as E/A (early wave/late wave) ratio, IVRT (isovolumic relaxation time) were significant recovered after treatment in DHF patients. Less therapeutic benefits were achieved in children with cardiomyopathy induced DHF, in compared with non-cardiomyopathy patients.ConclusionPediatric DHF and SHF were largely different in primary causes, clinical symptoms and signs and short-term prognosis. There was a limit diagnostic value of BNP with 100 pg/ml as cut-off value in pediatric DHF. Larger, multicenter studies of pediatric DHF are required in the future.

Timing of Pubertal Development in Boys and Girls With Congenital Heart Defects: A Nationwide Cohort Study.

BackgroundChildren with congenital heart defects (CHD) have an increased risk of developmental delay. It remains sparsely investigated if these patients also have a delayed pubertal development. In this nationwide cohort study, we evaluated if CHD was associated with timing of puberty using longitudinally collected data on pubertal milestones.Methods and ResultsWe used data from the Danish nationwide Puberty Cohort. Information on CHD was obtained from the Danish National Patient Register. Information on pubertal development was obtained from 15 780 children through questionnaires answered half‐yearly from 11 years until 18 years or full maturity. Using a multivariable regression model for censored time‐to‐event data, mean difference in age at attaining each pubertal milestone was estimated, including a combined pubertal marker. Compared with children without CHD, analyses were performed for both CHD overall and subdivided into simple and complex CHD. In a subanalysis, analyses were repeated in children born at term. In total, 137 children (62 boys and 75 girls) had a CHD diagnosis. Overall, no difference in age at pubertal timing was observed for children with CHD compared with unaffected children. The average differences were small for both boys (1.6 [95% CI, −2.6 to 5.7] months) and girls (1.0 [95% CI, −2.5 to 4.4] months). The same differences were observed when subdividing into simple or complex CHD and when restricting to children born at term.ConclusionsWe found no association between CHD and pubertal timing. For the group of children with complex CHD, we were unable to exclude a later pubertal timing.

Self- and informant-reported executive function in young adults operated for atrial or ventricular septal defects in childhood.

Adults with simple congenital heart defects(CHD) have increased risk of neurodevelopmental challenges including executive dysfunction. It is unknown if the executive dysfunction is universal or if it is driven by dysfunction in specific clinical subscales and how it might affect psychosocial aspects of everyday life. The self-reported and informant-reported executive function of adults with an average age of 26 ± 5 (range 18-41) who underwent childhood surgery for atrial septal defects (n = 34) or ventricular septal defects (n = 32) and matched controls (n = 40) were evaluated using the Behavior Rating Inventory of Executive Functions - Adult version (BRIEF-A). The CHD group reported having more executive dysfunction than controls in all BRIEF-A clinical subscales (p < 0.020) and more than their informants reported on their behalf (p < 0.006). The CHD group had received three times more special teaching (44% compared to 16%) and pedagogical psychological counselling (14% compared to none) and had a three times higher occurrence of psychiatric disorders than controls (33% compared to 11%). Lower educational levels and psychiatric disorders were associated with higher BRIEF-A scores (p < 0.03). Adults operated for septal defects in childhood report more challenges with all aspects of the executive functions than controls and more than relatives are aware of.

Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study

BackgroundThe belief that genetics plays a major role in the pathogenesis of congenital heart defects (CHD) has grown popular among clinicians. Although some studies have focused on the genetic testing of foetuses with CHD in China, the genotype–phenotype relationship has not yet been fully established, and hotspot copy number variations (CNVs) related to CHD in the Chinese population are still unclear. This cohort study aimed to assess the prevalence of chromosomal abnormalities in Chinese foetuses with different types of CHD.ResultsIn a cohort of 200 foetuses, chromosomal abnormalities were detected in 49 (24.5%) after a prenatal chromosome microarray analysis (CMA), including 23 foetuses (11.5%) with aneuploidies and 26 (13.0%) with clinically significant CNVs. The additional diagnostic yield following whole exome sequencing (WES) was 11.5% (6/52). The incidence of total chromosomal abnormality in the non-isolated CHD group (31.8%) was higher than that in the isolated CHD group (20.9%), mainly because the incidence of aneuploidy was significantly increased when CHD was combined with extracardiac structural abnormalities or soft markers. The chromosomal abnormality rate of the complex CHD group was higher than that of the simple CHD group; however, the difference was not statistically significant (31.8% vs. 23.6%, P = 0.398). The most common CNV detected in CHD foetuses was the 22q11.2 deletion, followed by deletions of 5p15.33p15.31, deletions of 15q13.2q13.3, deletions of 11q24.2q25, deletions of 17p13.3p13.2, and duplications of 17q12.ConclusionsCMA is the recommended initial examination for cases of CHD in prenatal settings, for both simple heart defects and isolated heart defects. For cases with negative CMA results, the follow-up application of WES will offer a considerable proportion of additional detection of clinical significance.

Hyperactivity and Inattention in Young Patients Born With an Atrial Septal or Ventricular Septal Defect.

Background: Patients with congenital heart defects have a well-established risk of neuropsychiatric comorbidities. Inattention and hyperactivity are three to four times more frequent in children with complex congenital heart defects. We have previously shown a higher burden of overall attention deficit/hyperactivity disorder (ADHD) symptoms in adults with simple congenital heart defects as well. However, it is unknown whether the higher burden of ADHD symptoms is mainly driven by hyperactivity, inattention, or both.Methods: The participants [simple congenital heart defect = 80 (26.6 years old), controls = 36 (25.3 years old)] and a close relative for each (n = 107) responded to the long version of the Conners' Adults ADHD Rating Scales questionnaire. Our primary and secondary outcomes are mean T-scores in the ADHD scores and symptom sub-scores.Results: Patients with simple congenital heart defects reported a higher mean T-score at all three DSM-IV ADHD scores (ADHD—combined: 52.8 vs. 44.9, p = 0.007, ADHD—inattention: 55.5 vs. 46.4, p = 0.002, and ADHD—hyperactivity: 49.4 vs. 44.0, p = 0.03) and in all four ADHD symptom sub-scores (inattention/memory problems: 50.3 vs. 44.2, p = 0.001, hyperactivity/restlessness: 49.7 vs. 45.9, p = 0.03, impulsivity/emotional lability: 50.0 vs. 41.3, p = 0.001, and self-esteem problems: 53.8 vs. 46.3, p = 0.003). The results were maintained after the removal of outliers (incongruent responses), albeit the hyperactivity/restlessness ADHD symptom sub-score lost significance. Self- and informant ratings differed significantly on the ADHD—inattention score for the congenital heart defect group, where informants rated the ADHD—inattention scores better than the congenital heart defect patients rated themselves.Conclusions: Patients with a simple congenital heart defect have a higher symptom burden across all ADHD scores and all symptom sub-scores. The higher burden of ADHD is driven by both inattention and hyperactivity symptoms, though the inattention symptoms seem more prominent. Close relatives were less aware of the inattention symptoms than the congenital heart defect patients themselves. Routine screening for ADHD symptoms may be warranted to facilitate adequate help and guidance as these symptoms are easily overlooked.Clinical Trial Registration: www.ClinicalTrials.gov, identifier: NCT03871881.

Prenatal diagnosis of congenital heart defects: echocardiography.

Congenital heart defects (CHD) are the most common congenital anomaly, and the majority can be diagnosed during prenatal life. Prenatal detection rates remain highly variable, as most CHD occur in low risk pregnancies and therefore depend on the maternal obstetric provider to recognize fetal cardiac abnormality on obstetric screening anatomic ultrasound. Fetuses with abnormal findings on obstetric screening anatomic ultrasound and/or risk factors for cardiac disease should be referred for evaluation with fetal echocardiography. Fetal echocardiography should be performed by specialized sonographers and interpreted by physicians with knowledge of evolving fetal cardiac anatomy and physiology throughout gestation. A fetal echocardiography examination, which can be done from the late first trimester onward, utilizes a standardized and systemic approach to diagnose fetuses with CHD or other forms of primary or secondary cardiac disease. The field of fetal cardiology has advanced past the accurate prenatal diagnosis of simple and complex CHD, as fetal echocardiography enables understanding of dynamic fetal cardiac physiology and consideration of potential fetal/neonatal treatment. The greatest impact of fetal echocardiography remains identification of critical CHD before birth to allow immediate cardiac management after delivery to decrease neonatal morbidity and mortality. Analyzing the severity of abnormal cardiac physiology in various forms of CHD before birth allows the fetal cardiologist to prognosticate effects on the developing fetus, predict risk of postnatal hemodynamic instability, guide delivery planning through multidisciplinary collaboration, and anticipate how the disease will impact the neonate after delivery.

Provision of palliative care to adults with congenital heart disease at the end of life

Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): This work was supported by Research Foundation Flanders [grant numbers G097516N to PM, 12E9816N to EG and 1154719N to LVB]; the King Baudouin Foundation (Fund Joseph Oscar Waldmann-Berteau &amp; Fund Walckiers Van Dessel); the National Foundation on Research in Pediatric Cardiology; and the Swedish Research Council for Health, Working Life and Welfare -FORTE (grant number STYA-2018/0004). OnBehalf BELCODAC consortium Background Although recent position papers have discussed and advocated for the integration of palliative care in the treatment course of adults with congenital heart defects (CHD), empirical studies reporting to what extent palliative care is currently provided, are still lacking. Purpose (1) To explore the current provision of palliative care to adults with CHD in the last 6 months of their life; and (2) to describe the profile of patients who received palliative care. Methods In this retrospective study, data of deceased adult patients included in the BELgian COngenital heart disease Database combining Administrative and Clinical data (BELCODAC) were analysed. Palliative care provision (i.e., admission to palliative care ward, or palliative care at home) was identified using nomenclature codes. The level of anatomical complexity was based on the Bethesda classification. Descriptive analyses were performed. Results During the period 2006-2016, 480 adults with CHD died (mean age: 54.4y; 45% simple CHD, 43% moderate CHD, 12% complex CHD). We identified that 75 patients (16%) had at least one nomenclature code linked to palliative care in the last 6 months of their life. More specifically, 16 patients were admitted to an inpatient palliative care service and 67 patients received palliative care at home. Of the patients who received palliative care at home, 40 patients were cared for by a multidisciplinary team specialized in palliative care provision and 59 patients received care from nurses and/or general practitioners while being recognized as a palliative patient. A total of 8 patients received palliative care both at the inpatient palliative care service and at home. Of the 75 patients receiving palliative care, 44 (59%) had a neoplasm as the primary cause of death and a cardiac cause of death was reported for 10 patients (13%) (see Figure 1). The mean age of patients receiving palliative care was 57.9 years. Most patients receiving palliative care had a simple CHD (n = 40; 53%), 29 patients (39%) had a moderate lesion, and 6 patients (8%) had a complex lesion. That means that, respectively, 19%, 14%, and 11% of all deceased patients with a simple, moderate, and complex heart lesion received palliative care. Conclusions This is the first exploratory study on palliative care in adults with CHD. About one in six patients who died received palliative care. Of those who received palliative care, the cause of death was in most cases of a non-cardiac nature. Further research is needed to investigate the care trajectories and care needs of adults with CHD in the last months of life. Figure 1. Causes of death of adults with CHD who received palliative care in the last 6 months of life (n = 75).

Bicuspid Aortic Valve in Infants, Children, and Adolescents: A Review for Primary Care Providers.

1. Talha Niaz, MBBS* 2. Jonathan N. Johnson, MD*,† 3. Frank Cetta, MD*,† 4. Timothy M. Olson, MD*,† 5. Donald J. Hagler, MD*,† 1. *Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, and 2. †Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN * Abbreviations: AHA : : American Heart Association BAV : : bicuspid aortic valve TTE : : transthoracic echocardiography Bicuspid aortic valve is the most common congenital heart defect in children, adolescents, and adults. Primary care providers play an important role in screening, referral, and follow-up of these patients and should be aware of the family screening guidelines, sports participation recommendations, and periodic follow-up requirements for adequate surveillance of the complications that arise from bicuspid aortic valve. After reading this article, readers should be able to: 1. Describe the epidemiology and anatomy of bicuspid aortic valve (BAV). 2. Understand the clinical presentation and diagnosis of BAV in infants, children, and adolescents. 3. Identify the various complications of BAV disease. 4. Discuss the management and follow-up requirements for BAV. 5. Analyze the family screening and sports participation guidelines for patients with BAV. Bicuspid aortic valve (BAV) is the most common congenital heart defect in children, adolescents, and adults. (1) It is a heterogeneous disease that affects both the aortic valve and the aorta. It can lead to many complications, including aortic valve stenosis, regurgitation, or endocarditis. (2)(3) It also can lead to dilation of the aorta, predisposing individuals to a significantly higher risk of aortic aneurysm and dissection. (4) Although most individuals with BAV present with these long-term complications during adulthood, a considerable number of patients may also present during childhood and adolescence with early-onset disease; that may require interventions in up to 12% to 15% of the patients. (5)(6) Therefore, patients with BAV require lifelong follow-up and surveillance. BAV has multiple implications in terms of sports participation and family screening, making it an important subject for primary care providers. This article reviews the anatomy, genetics, presentation, diagnosis, …

Abnormal Left-Hemispheric Sulcal Patterns in Adults With Simple Congenital Heart Defects Repaired in Childhood.

BackgroundChildren operated on for a simple congenital heart defect (CHD) are at risk of neurodevelopmental abnormalities. Abnormal cortical development and folding have been observed in fetuses with CHD. We examined whether sulcal folding patterns in adults operated on for simple CHD in childhood differ from those of healthy controls, and whether such differences are associated with neuropsychological outcomes.Methods and ResultsPatients (mean age, 24.5 years) who underwent childhood surgery for isolated atrial septal defect (ASD; n=33) or ventricular septal defect (VSD; n=30) and healthy controls (n=37) were enrolled. Sulcal pattern similarity to healthy controls was determined using magnetic resonance imaging and looking at features of sulcal folds, their intersulcal relationships, and sulcal graph topology. The sulcal pattern similarity values were tested for associations with comprehensive neuropsychological scores. Patients with both ASD and VSD had decreased sulcal pattern similarity in the left hemisphere compared with controls. The differences were found in the left temporal lobe in the ASD group and in the whole left hemisphere in the VSD group (P=0.033 and P=0.039, respectively). The extent of abnormal left hemispheric sulcal pattern similarity was associated with worse neuropsychological scores (intelligence, executive function, and visuospatial abilities) in the VSD group, and special educational support in the ASD group.ConclusionsAdults who underwent surgery for simple CHD in childhood display altered left hemisphere sulcal folding patterns, commensurate with neuropsychological scores for patients with VSD and special educational support for ASD. This may indicate that simple CHD affects early brain development.RegistrationURL: https://www.clinicaltrials.gov; Unique identifier: NCT03871881.

Health-Related Quality of Life in Children and Adolescents with Simple Congenital Heart Defects before and after Transcatheter Intervention Therapy: A Single-Center Study.

Objective: To explore the health-related quality of life (HRQoL) of children and adolescents with simple congenital heart defects before and after the transcatheter intervention.Methods: The Pediatric Quality of Life Inventory 4.0 scale was used to assess the quality of life of 78 children and adolescents before and after the transcatheter intervention and to evaluate the parents’ perception of their children’s quality of life.Results: In all, 76 patients were completed the study. The results showed that the scores of the four dimensions and the total score for the quality of life of the patients significantly improved 1 month after the intervention. At 6 months after treatment, the scores in all dimensions continued to improve. From the parents’ perspective, the scores of the patients in all dimensions improved significantly at 1 month and 6 months after treatment. In terms of the quality of life assessment, the self-assessment results of the patients were more positive than those of their parents.Conclusions: The results showed that the quality of life of children and adolescents with simple congenital heart defects can be positively affected by the transcatheter intervention. Moreover, this improvement is not transient and seems to increase over time.

Long-term experience with the one-and-a-half ventricle repair for simple and complex congenital heart defects

The one-and-a-half ventricle repair (1.5VR) is a surgical alternative to Fontan circulation or high-risk biventricular repair in patients with complex congenital heart disease (CHD) with a hypoplastic right ventricle (RV). We report our 25 years of experience to evaluate whether the degree of anatomical complexity of the CHD can affect long-term outcomes. This is a retrospective study including patients undergoing 1.5VR between 1994 and 2018. Clinical records and operative reports were reviewed. Follow-up data were collected from all survivors at the last evaluation or by phone contact. Twenty-nine patients underwent 1.5VR [median age: 3.5 years, interquartile range (IQR) 0.8-7.8]. Fifteen patients had 'simple' (i.e. confined to right heart lesions) anatomical characteristics (48.3%); the median tricuspid valve annulus z-score was -3.5 (IQR -6.2 to +3.6). There were no operative deaths. The median hospital stay was 21 days (IQR 10-33), with postoperative complications in 21 patients (75.8%). At a median follow-up of 13.2 years (IQR 3.2-25.6 years; completeness 96.6%), there were 3 late deaths. There was no significant difference in survival and in freedom from adverse events between simple and complex anatomy groups. However, stress test findings showed a tendency towards a higher maximum oxygen uptake in the simple group (P = 0.055). The 1.5VR strategy is an effective low-risk surgical option for patients with CHD with hypoplastic RV. When it is planned from birth, late outcomes can be satisfactory. In our experience, the presence of associated major cardiac anomalies was not associated with either worse early or long-term outcomes and functional status.