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CHD affects over 1 million children in the United States. Studies show decreased mortality from CHD with newborn cardiac screening. California began a screening programme on 1 July, 2013. We evaluated the effect of mandatory screening on surgical outcomes at Loma Linda University Children’s Hospital since 1 July, 2013.
Methods:
We evaluated all infants having congenital heart surgery at Loma Linda University Children’s Hospital between 1 July, 2013 and 31 December, 2018. Primary target diagnoses include hypoplastic left heart syndrome, pulmonary atresia with intact ventricular septum, tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great arteries, tricuspid atresia, and truncus arteriosus. Secondary target diagnoses include aortic coarctation, double outlet right ventricle, Ebstein anomaly, interrupted aortic arch, and single ventricle. Patients were stratified by timing of diagnosis (pre-screen, screen positive, and screen negative). Primary end points were post-operative length of stay, operative mortality, absolute mortality, and actuarial survival.
Results:
The cohort included 274 infants. Of these, 79% were diagnosed prior to screening (46% prenatally). Only 38% of those screened were positive, with 13% of the cohort having a “missed diagnosis.”
Conclusions:
Primary targets were more likely to be diagnosed by screening (53%), while secondary targets were unlikely to be diagnosed by screening (10%) (p = 0.004). Outcomes such as length of stay, operative mortality, and actuarial survival were not different based on timing of diagnosis (p > 0.05). Despite late diagnosis, those not diagnosed until after screening did not have adverse outcomes.
To investigate the safety and feasibility of midazolam for conscious sedation in transcatheter device closure of atrial septal defects guided solely by transthoracic echocardiography.
Methods:
A retrospective analysis was performed on 55 patients who underwent transcatheter device closure of atrial septal defects from October, 2019 to May, 2020. All patients received intravenous midazolam and local anesthesia with lidocaine to maintain sedation. A group of previous patients with unpublished data who underwent the same procedure with general anesthesia was set as the control group. The relevant clinical parameters, the Ramsay sedation scores, the numerical rating scale, and the post-operative satisfaction questionnaire were recorded and analyzed.
Results:
In the midazolam group, the success rate of atrial septal defect closure was 98.2%. Hemodynamic stability was observed during the procedure. None of the patients needed additional endotracheal intubation for general anesthesia. Compared with the control group, the midazolam group had no statistically significant differences in the Ramsay sedation score and numerical rating scale scores. Patients in the midazolam group experienced more post-operative satisfaction than those in the control group.
Conclusions:
Conscious sedation using midazolam is a safe and effective anesthetic technique for transcatheter device closure of atrial septal defects guided solely by transthoracic echocardiography.
Most cases of severe or critical pulmonary stenosis are detected early and interventional management is routine within the first days of life. We present a case of a thirteen-year-old boy diagnosed with pulmonary stenosis and atrial septal defect with low ventricle ejection fraction. The patient underwent staged pulmonary balloon valvuloplasty and interventional atrial septal defect closure with good results.
Coronary abnormalities are frequent in pulmonary atresia and intact ventricular septum, mainly in patients with a very diminutive right ventricle. They severely impact on early and late prognosis. We describe an 8-year-old girl who presented with myocardial ischaemia, late after uneventful Fontan completion. The importance of precise delineation of the coronary anatomy upon initial assessment and during follow-up is emphasised.
DiGeorge syndrome is a rare spectrum of disorder affecting structures derived from third and fourth pharyngeal pouches characterised by aplasia or hypoplasia of thymus and parathyroid glands, and conotruncal anomalies. Presentation includes infants with hypocalcemic seizures, CHD, or recurrent infection. This case report illustrates a unique combination of proximal interruption of right pulmonary artery and aberrant right subclavian artery in a 3-month-old infant who was subsequently diagnosed as DiGeorge syndrome. This constellation of vascular anomalies in an infant with DiGeorge syndrome has not been previously reported in the literature.
Three-dimensional visualisation is invaluable for evaluating cardiac anatomy. Patient-specific three-dimensional printed models of the heart are useful but require significant infrastructure. The three-dimensional virtual models, derived from 3D echocardiography, computed tomographic (CT) angiography or cardiac magnetic resonance (CMR), permit excellent visualisation of intracardiac anatomy, but viewing on a two-dimensional screen obscures the third dimension. Various forms of extended reality, such as virtual reality and augmented reality, augment the third dimension but only using expensive equipment. Herein, we report a simple technique of anaglyph stereoscopic visualisation of three-dimensional virtual cardiac models. The feasibility of achieving stereovision on a personal computer, using open-source software, and the need for inexpensive anaglyph glasses for viewing make it extremely cost-effective. Further, the retained depth perception of resulting stereo images in electronic and printed format makes sharing with other members of the team easy and effective.
Many children born with congenital heart defects are faced with cognitive deficits and psychological challenges later in life. The mechanisms behind are suggested to be multifactorial and are explained as an interplay between innate and modifiable risk factors. The aim was to assess whether there is a relationship between mean arterial pressure during surgery of a septal defect in infancy or early childhood and intelligence quotient scores in adulthood.
Methods:
In a retrospective study, patients were included if they underwent surgical closure of a ventricular septal defect or an atrial septal defect in childhood between 1988 and 2002. Every patient completed an intelligence assessment upon inclusion, 14–27 years after surgery, using the Wechsler Adult Intelligence Scale Version IV.
Results:
A total of 58 patients met the eligibility criteria and were included in the analyses. No statistically significant correlation was found between blood pressure during cardiopulmonary bypass and intelligence quotient scores in adulthood (r = 0.138; 95% CI−0.133–0.389). Although amongst patients with mean arterial pressure < 40 mmHg during cardiopulmonary bypass, intelligence quotient scores were significantly lower (91.4; 95% CI 86.9–95.9) compared to those with mean arterial pressure > 40 mmHg (99.8; 95% CI 94.7–104.9).
Conclusions:
Mean arterial pressure during surgery of ventricular septal defects or atrial septal defects in childhood does not correlate linearly with intelligence quotient scores in adulthood. Although there may exist a specific cut-off value at which low blood pressure becomes harmful. Larger studies are warranted in order to confirm this, as it holds the potential of partly relieving CHD patients of their cognitive deficits.
Technologically, advances in both transcatheter and surgical techniques have been continuing in the past 20 years, but an updated comprehensive comparison in device-based versus surgery in adults in terms of incidence of in-hospital mortality, perioperative stroke, and atrial fibrillation onset is still lacking. We investigate the performance of transcatheter device-based closure compared to surgical techniques by a systematic review and meta-analysis of the last 20 years literature data.
Material and methods:
The analysis was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Literature search was performed based on Cochrane Library, Embase, PubMed, and Google Scholar to locate articles published between January 2000 and October 2020, regarding the comparison between short-term outcome and post-procedural complications of atrial septal defect patients receiving transcatheter or surgical closure. The primary outcome was the comparison of in-hospital mortality from all causes between patients treated with transcatheter closure or cardiac. Secondary outcomes were the onset of post-procedural atrial fibrillation or perioperative stroke.
Results:
A total of 2360 patients were included of which 1393 [mean age 47.6 years, 952 females (68.3%)] and 967 [mean age 40.3 years, 693 females (71.6%)] received a transcatheter device-based and surgery closure, respectively. In-hospital mortality [OR 0.16 (95% CI (0.66−0.44)), p = 0.0003, I2 = 0%], perioperative stroke [OR 0.51 (95% CI (0.31−0.84)), p = 0.003, I2 = 79%], and post-procedural atrial fibrillation [OR 0.14 (95% CI (0.03−0.61)), p = 0.009, I2 = 0%] significantly favoured transcatheter device-based closure
Conclusion:
Transcatheter atrial septal defect closure resulted safer in terms of in-hospital mortality, perioperative stroke, and post-procedural atrial fibrillation compared to traditional surgery.
The most common CHD in the adult patient population is an atrial septal defect due to its asymptomatic nature in early life. However, when diagnosis and treatment are delayed, pulmonary arterial hypertension may develop as a long-term complication, sometimes before adulthood. The presence of PAH adversely affects the results of surgical treatment and may even eliminate the feasibility of surgery in some patients. In such patients who have high pulmonary artery pressure and pulmonary vascular resistance at the margin of inoperability, the response to the acute vasoreactivity test determines the treatment modality.
In our retrospective study, a total of 906 patients who underwent ASD closure between January, 2011 and November, 2020, seven of which had undergone the fenestrated patch procedure after they were identified to have high PAP, but positive AVT test response were included. Short-term follow-up of patients with fenestrated ASD patches revealed decreased pulmonary pressure, regression in NYHA classification, and improvement in symptoms.
The fenestrated patch technique should be kept in mind as an option to expand the surgical spectrum in the treatment of patients with high pulmonary pressures, where complete closure is risky. It appears that the fenestrated patch technique is a safe approach in the management of pulmonary hypertension in patients with ASD who have pulmonary hypertension, according to short- and midterm follow-up findings.
Dilated cardiomyopathy is characterised by dilatation and impaired contraction of the left ventricle or both ventricles, which is the most common childhood cardiomyopathy. In recent years, it has been recognised that many sorts of genetic mutations may contribute to dilated cardiomyopathy. We now report a rare association of dilated cardiomyopathy with site mutation of BMPR2 gene. We did not find such an association reported in the medical literature.
There are three cusps in a normally developed aortic valve. Abnormal excavation or fusion, during the embryological development of the aortic valve, results in a varying number of cusps. Bicuspid aortic valve is the most common, but more rarely, unicuspid and quadricuspid aortic valves can be seen.
Here, a case of a 16-year-old male with a unicommissural unicuspid aortic valve and a case of a 13-year-old female with a quadricuspid aortic valve were reported.
Pulmonary hypertension is a rare and complex disease with poor prognosis. Paediatric cases are infrequent and usually associated with congenital heart disease. Management is problematical due to the limited therapy available and poor evidence of efficacy. Recently a new medication, selexipag (UptraviR), a prostacyclin receptor agonist, has been approved for the treatment of pulmonary artery hypertension in adults. We report our experience using selexipag in four paediatric patients with pulmonary hypertension associated with congenital heart disease.
Transcatheter closure of secundum-type atrial septal defects has become the treatment of choice in the majority of cases. Femoral venous access is the standard rout for device implantation. Anatomic abnormalities of venous system including interrupted inferior caval vein with azygous continuation can make the percutaneous procedure more complicated. In such instances, alternative methods of transjugular or transhepatic approach or surgical repair should be considered. We present the case of a 50-year-old male with secundum-type atrial septal defect and a rare form of segmental interruption of inferior caval vein and describe successful atrial septal defect closure through transfemoral approach.
Although cardiac catheterisation (cath) is the diagnostic test for pulmonary hypertension, it is an invasive procedure. Echocardiography (echo) is commonly used for the non-invasive diagnosis of pulmonary hypertension but maybe limited by lack of adequate signals. Therefore, emphasis has been placed on biomarkers as a potential diagnostic tool. No prior paediatric studies have simultaneously compared N-terminal pro-B-type-natriuretic peptide (NTproBNP) with cath/echo as a potential diagnostic tool. The aim of this study was to determine if NTproBNP was a reliable diagnostic tool for pulmonary hypertension in this population.
Methods:
Patients were divided into Study (echo evidence/established diagnosis of pulmonary hypertension undergoing cath) and Control (cath for small atrial septal defect/patent ductus arteriosus and endomyocardial biopsy post cardiac transplant) groups. NTproBNP, cath/echo data were obtained.
Results:
Thirty-one patients met inclusion criteria (10 Study, 21 Control). Median NTproBNP was significantly higher in the Study group. Echo parameters including transannular plane systolic excursion z scores, pulmonary artery acceleration time and right ventricular fractional area change were lower in the Study group and correlated negatively with NTproBNP. Receiver operation characteristic curve analysis demonstrated NTproBNP > 389 pg/ml was 87% specific for the diagnosis of pulmonary hypertension with the addition of pulmonary artery acceleration time improving the specificity.
Conclusions:
NTproBNP may be a valuable adjunctive diagnostic tool for pulmonary hypertension in the paediatric population. Echo measures of transannular plane systolic excursion z score, pulmonary artery acceleration time and right ventricular fractional area change had negative correlations with NTproBNP. The utility of NTproBNP as a screening tool for pulmonary hypertension requires validation in a population with unknown pulmonary hypertension status.
To promote good health in patients with congenital heart disease (CHD), prevention of gaps in care is essential, as adverse prognosis is associated with care gaps. A well-organised, formal transition programme may help prevent loss to follow up after leaving paediatric care. To inform the development of a transition programme, we investigated factors associated with care gaps in adults with CHD.
Methods:
Between 15 October 2018 and 15 November 2019 data on patient characteristics and patient experiences with transition-related education, difficulties, and gaps in care were collected and assessed in 87 adults with CHD. Two groups (with gaps in care versus without gaps) were compared to identify informative differences using chi-squared, Fisher’s exact tests, or Wilcoxon rank-sum tests. To assess the relationship between care gaps and identified variables, factors with significant difference (p < 0.05) in bivariate analyses were employed as covariates in multivariable logistic regression analysis.
Results:
About half of the study cohort reported having gaps in care. In a multivariate model, patients having thorough discussion about the importance of receiving adult care in paediatric care were 70% less likely to experience gaps (odds ratio 0.303, 95% CI 0.14, 0.66). Forty-seven percent of patient-perceived barriers to transitioning originated from negative feelings associated with transfer.
Conclusion:
Gaps in care are highly prevalent in adults with CHD. For a transition programme to be most effective, curriculum development may need to consider the differential impact of various factors and target areas to mitigate the psychological stress associated with transfer.
Pulmonary hypertension is not the only cause of arterial desaturation in patients with atrial septal defect. Arterial desaturation can also occur with normal pulmonary artery pressure making it mandatory to understand the mechanism to avoid erroneous diagnosis. In this report, for the first time, we demonstrate atrial flutter as the cause of arterial desaturation in a patient with large atrial septal defect despite normal pulmonary artery pressure, which was normalised following successful radiofrequency ablation.
The authors briefly present two clinical cases and discuss the approach to the management of an incidental finding of patent foramen ovale (PFO) in a young child. We discuss the current controversies in the management of PFO in this age group.
Regular evaluation of physical capacity takes a crucial part in long-term follow-up in patients with congenital heart disease (CHD). This study aims to examine the accuracy of self-estimated exercise capacity compared to objective assessments by cardiopulmonary exercise testing in patients with CHD of various complexity.
Methods:
We conducted a single centre, cross-sectional study with retrospective analysis on 382 patients aged 8–68 years with various CHD who completed cardiopulmonary exercise tests. Peak oxygen uptake was measured. Additionally, questionnaires covering self-estimation of exercise capacity were completed. Peak oxygen uptake was compared to patient’s self-estimated exercise capacity with focus on differences between complex and non-complex defects.
Results:
Peak oxygen uptake was 25.5 ± 7.9 ml/minute/kg, corresponding to 75.1 ± 18.8% of age- and sex-specific reference values. Higher values of peak oxygen uptake were seen in patients with higher subjective rating of exercise capacity. However, oxygen uptake in patients rating their exercise capacity as good (mean oxygen uptake 78.5 ± 1.6%) or very good (mean oxygen uptake 84.8 ± 4.8%) was on average still reduced compared to normal. In patients with non-complex cardiac defects, we saw a significant correlation between peak oxygen uptake and self-estimated exercise capacity (spearman-rho −0.30, p < 0.001), whereas in patients with complex cardiac defects, no correlation was found (spearman-rho −0.11, p < 0.255).
Conclusion:
The mismatch between self-estimated and objectively assessed exercise capacity is most prominent in patients with complex CHD.
Registration number at Charité Universitätsmedizin Berlin Ethics Committee: EA2/106/14.
Optimal pre-participative screening in young athletes is still controversial. We sought to evaluate the strategy of including point-of-care ultrasound to electrocardiogram. In total, 1188 young competitive athletes were screened in different sports institutions. This proved to be a useful strategy by improving diagnostic performance primarily with respect to detect structural abnormalities and also by minimising positive false cases of electrocardiogram alone.
Vincent van Gogh (1853–1890) is one of the most famous artists in the world. During his 10-year career as an artist, he created more than 850 paintings. These works of art are now displayed in museums around the globe. It is therefore even more surprising that van Gogh sold just one painting during his lifetime. Van Gogh is also well-known for his mental illness. In 1888, at the age of 35, he famously sliced off his left ear. This was followed by multiple mental collapses in early 1889, leading to his admission to a mental hospital. Despite living in the asylum, van Gogh continued to paint and created some of his most beautiful works of art during the year at Saint-Rémy. Tragically, he committed suicide in 1890 at the age of 37. Over the 130 years since his death, there has been much speculation about the underlying illness of Vincent van Gogh. Many of his contemporary physicians felt that he had a form of epilepsy as the cause of his sudden “attacks”. By the last quarter of the 19th century, science and medicine were moving rapidly forward, and there were many medical conditions that had effective treatments. One example is the use of digoxin for the treatment of heart failure, and another is the discovery of potassium bromide for seizures. This paper provides an overview of van Gogh’s mental illness, the treatments that were offered by his contemporaneous physicians, and the role that these factors may have influenced his paintings.
