Atypical Cardiac Anatomy Leading to Subvalvar Aortic Stenosis in a 19-Month-Old Boy With a Murmur.

A 19-month-old boy presented with a murmur and was found to have an unusual etiology of subvalvar aortic stenosis with discrete subaortic membrane and anomalous attachment of the anterior mitral valve papillary muscle to the interventricular septum. Preoperative suspicion for mitral valve involvement impacted surgical planning.

Transcatheter Edge-to-Edge Repair in Complex Cyanotic Congenital Heart Disease With a Common Atrioventricular Valve.

A 21-year-old patient with complex cyanotic congenital heart disease and highly symptomatic severe common atrioventricular valve regurgitation was deemed too high risk for surgical intervention or transplantation. She successfully underwent transcatheter edge-to-edge repair with resulting considerable improvement in her symptoms, renal function, and quality of life.

Noninvasive Hemodynamic Assessment for Late-Stage Truncus Arteriosus Management.

A 7-year-old girl with unoperated truncus arteriosus arrived in Finland as a refugee. In contrast to our previous practices, hemodynamic assessment was made using cardiovascular magnetic resonance instead of cardiac catheterization. During the 2-year follow-up period, the right ventricular pressure was estimated to be 50% of systemic pressure in echocardiogram evaluations.

Transhepatic Transcatheter Pulmonary Valve Replacement.

Transcatheter pulmonary valve replacement (TPVR) is complicated in patients without adequate femoral or internal jugular vascular access. Transhepatic vascular access has been shown to be safe and effective across a spectrum of diagnostic and interventional procedures. Closure of the hepatic venous tract can be accomplished with a multitude of readily available vascular occlusion devices. The rates of major adverse events are low: 5% to 8% with hemoperitoneum and complete heart block are most significant. To our knowledge, this is the first report of using transhepatic access for TPVR; closure of the hepatic venous tract was achieved with an Amplatzer vascular plug type II.

Right Ventricle-Pulmonary Artery Conduit Replacement Resolves Anomalous Single Coronary Stenosis in Repaired Tetralogy of Fallot.

A 41-year-old man with repaired tetralogy of Fallot and a single coronary artery (CA) arising anteriorly presented with dyspnea in the setting of moderate right ventricle-pulmonary artery conduit (RV-PAC) stenosis and moderate-to-severe extrinsic left main CA compression between the aorta and RV-PAC. His CA stenosis resolved after successful RV-PAC replacement.

Automated analysis of heart sound signals in screening for structural heart disease in children.

Our aim was to investigate the ability of an artificial intelligence (AI)-based algorithm to differentiate innocent murmurs from pathologic ones. An AI-based algorithm was developed using heart sound recordings collected from 1413 patients at the five university hospitals in Finland. The corresponding heart condition was verified using echocardiography. In the second phase of the study, patients referred to Helsinki New Children's Hospital due to a heart murmur were prospectively assessed with the algorithm, and then the results were compared with echocardiography findings. Ninety-eight children were included in this prospective study. The algorithm classified 72 (73%) of the heart sounds as normal and 26 (27%) as abnormal. Echocardiography was normal in 63 (64%) children and abnormal in 35 (36%). The algorithm recognized abnormal heart sounds in 24 of 35 children with abnormal echocardiography and normal heart sounds with normal echocardiography in 61 of 63 children. When the murmur was audible, the sensitivity and specificity of the algorithm were 83% (24/29) (confidence interval (CI) 64-94%) and 97% (59/61) (CI 89-100%), respectively. CONCLUSION: The algorithm was able to distinguish murmurs associated with structural cardiac anomalies from innocent murmurs with good sensitivity and specificity. The algorithm was unable to identify heart defects that did not cause a murmur. Further research is needed on the use of the algorithm in screening for heart murmurs in primary health care. WHAT IS KNOWN: • Innocent murmurs are common in children, while the incidence of moderate or severe congenital heart defects is low. Auscultation plays a significant role in assessing the need for further examinations of the murmur. The ability to differentiate innocent murmurs from those related to congenital heart defects requires clinical experience on the part of general practitioners. No AI-based auscultation algorithms have been systematically implemented in primary health care. WHAT IS NEW: • We developed an AI-based algorithm using a large dataset of sound samples validated by echocardiography. The algorithm performed well in recognizing pathological and innocent murmurs in children from different age groups.

SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.

Haploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate. In addition, extracraniofacial anomalies may be present, such as skeletal, cardiac renal, and abnormalities of the central nervous system. Variants have been either de novo or inherited, and both inter- and intrafamilial variability has been observed. Here we describe a patient referred for exome sequencing for a complex congenital heart defect and Hirschsprung disease found by exome sequencing to be heterozygous for a loss of function variant, c.945dup (p.Val316SerfsTer5), in SF3B2. This variant was inherited from a parent with an isolated cardiac defect. Interestingly, neither have the defining craniofacial features or other dysmorphisms. This report further illustrates the degree of phenotypic variability seen in SF3B2-related disease and expands the spectrum to include Hirschsprung disease.

Genome-wide association studies of Down syndrome associated congenital heart defects.

Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multiethnic group of children with DS and a CHD (n=886: atrioventricular septal defects (AVSD), n=438; atrial septal defects (ASD), n=122; ventricular septal defects (VSD), n=170; other types of CHD, n=156) and DS with a structurally normal heart (DS+NH, n=572). We performed four GWAS for common variants (MAF>0.05) comparing DS with CHD, stratified by CHD-subtype, to DS+NH controls. Although no SNP achieved genome-wide significance, multiple loci in each analysis achieved suggestive significance (p<2×10-6). Of these, the 1p35.1 locus (near RBBP4) was specifically associated with ASD risk and the 5q35.2 locus (near MSX2) was associated with any type of CHD. Each of the suggestive loci contained one or more plausible candidate genes expressed in the developing heart. While no SNP replicated (p<2×10-6) in an independent cohort of DS+CHD (DS+CHD: n=229; DS+NH: n=197), most SNPs that were suggestive in our GWASs remained suggestive when meta-analyzed with the GWASs from the replication cohort. These results build on previous work to identify genetic modifiers of DS-associated CHD.

A qualitative analysis of parents' experiences while their neonates with congenital heart disease require intensive care.

Objective: To better understand the experience of parents with neonates with congenital heart diseases (CHD) admitted to a neonatal intensive care unit (NICU) in order to identify challenges faced by parents and discover support strategies helpful in positive coping. Study design: Prospective cohort study of parents of neonates with CHD. Parents completed a questionnaire with open ended questions regarding their experience and feeling during the hospitalization within one week of the child discharge from the NICU. Krippendorff's content analysis was used to examine data. Results: Sixty-four parents participated. Three themes were highlighted - Dialectical parental experiences, Suboptimal Parental Experiences and Positive Parental Experiences - describing the state of being and feelings that these parents face. Through this analysis, we were able to develop clinical considerations and identify coping strategies. Conclusion: The understanding of parental experience and challenges when dealing with their child admitted in the NICU is crucial to identify coping strategies to promote adaptation and enhance the development of positive coping mechanisms.

High-resolution three-dimensional atlas of congenital heart defects based on micro-CT images of human postmortem wax-infiltrated heart specimens.

INTRODUCTION: Postmortem heart specimens are essential for education and research on the anatomy, morphology, and pathology of congenital heart defects. However, such specimens are rarely obtained these days, and the specimens stored in formalin are inexorably deteriorating. This study aimed to develop methods to archive three-dimensional data of rare human heart specimens and to publish the data. METHODS: All wax-infiltrated human postmortem heart specimens stored in the Cardiac Registry, Boston Children's Hospital were scanned using microfocus computed tomography (X-Tek HMXST225, Nikon Metrology, Inc.), and reproduced using a three-dimensional printer (Form 3B, Formlabs Inc.). The digital models were published as an interactive three-dimensional online atlas. The resolution of the three-dimensional data was evaluated. RESULTS: The primary diagnoses in the 88 specimens included in the study include normal cardiac anatomy (11 cases), transposition of the great arteries {S,D,D} (11 cases), ventricular septal defect (10 cases), double-outlet right ventricle (9 cases), hypoplastic left heart syndrome (9 cases), and common atrioventricular canal (7 cases). Twenty-five cases (28%) underwent previous surgical or percutaneous interventions to the heart, including Mustard procedure (1 case), Senning procedure (2 cases, one was performed on a postmortem heart specimen). The median voxel size of the three-dimensional data was 40.5 um (IQR, 32.8-64.2). All intracardiac structures were precisely reproduced as digital and physical three-dimensional models. CONCLUSIONS: The methods and resultant models were considered useful for archiving and furthering the utilization of these invaluable specimens. The atlas is available at https://www.sketchfab.com/heartmodels/collections.

Techniques for Identifying a Patent Foramen Ovale: Transthoracic Echocardiography, Transesophageal Echocardiography, Transcranial Doppler, Right Heart Catheterization.

Noninvasive and invasive imaging modalities play important roles for the detection of patent foramen ovale (PFO). Transthoracic echocardiography or transcranial Doppler bubble study can be used for initial noninvasive PFO screening. For diagnostic confirmation, transesophageal echocardiography bubble study can be utilized, a semiinvasive confirmatory test that can directly visualize a PFO. In selective cases when the diagnosis is in doubt, PFO can be accurately diagnosed invasively with right heart catheterization. Understanding the advantages and limitations of each diagnostic option will help clinicians choose the appropriate test for patients presenting with a PFO-associated condition who may benefit from percutaneous device closure.

Quadricuspid aortic valve in a 16-year-old Quarter horse.

A 16-year-old horse, 400 kg, male, Quarter horse gelding was examined for a cardiac murmur that had not been previously heard. Physical examination revealed a regularly irregular pulse and a grade III/VI, decrescendo, diastolic murmur with a point of maximum intensity over the left heart base. Base-apex standard electrocardiographic examination at rest showed sinus rhythm with second-degree atrio-ventricular blocks. Echocardiography identified the presence of four aortic valve cusps, two equal larger and two unequal smaller cusps. Color flow Doppler examination showed a diastolic regurgitant jet emerging from the central region of closed aortic valve. Based on clinical and echocardiographic findings a diagnosis of mild to moderate aortic valve insufficiency secondary to quadricuspid aortic valve was made. This report describes a rare congenital heart defect that can be detected by transthoracic echocardiography in the horse.

Nebulized Budesonide Prevents Airway Inflammation in Children with High Total IgE Levels After Open Heart Surgery with Cardiopulmonary Bypass: A Prospective Randomized Controlled Trial.

Cardiopulmonary bypass (CPB) is a crucial technique used to repair congenital heart defects (CHD); however, it may induce inflammatory response, leading to airway inflammation and need for prolonged mechanical ventilation. In this study, we aimed to evaluate the effect of budesonide nebulization in children with high serum total immunoglobulin E (tIgE) levels undergoing surgical repair of CHD via CPB. We conducted a randomized, single-center, controlled trial at a tertiary teaching hospital. One-hundred and one children with high tIgE were enrolled and randomized into the budesonide nebulization group (BUD group, n = 50) or the normal saline nebulization group (NS group, n = 51) between January 2020 and December 2020. Budesonide or normal saline was administered through a vibrating mesh nebulizer during mechanical ventilation every 8 h. Blood and bronchoalveolar lavage fluid (BALF) samples were examined and data on airway mechanics and clinical outcomes were recorded. IL-6 and IL-8 levels in the blood and BALF samples significantly increased after CPB in both groups. Budesonide inhalation reduced IL-6 and IL-8 levels in the blood and BALF samples in children with high tIgE (P < 0.05). The mean airway pressure, PCO2, and oxygen index in the BUD group were significantly lower than those in the NS group after the first inhalation dose and persisted until almost 24 h after surgery. The peak inspiratory pressure and drive pressure were lower in the BUD group than in the NS group at nearly 24 h after surgery, with no significant difference at other time points. Additionally, the duration of mechanical ventilation, number of noninvasive ventilations after extubation, and number of patients using aerosol-inhaled bronchodilators after CICU in the BUD group were significantly lower than those in the NS group (P < 0.05). Children with high preoperative tIgE levels are at risk of airway inflammation after cardiopulmonary bypass. Inhaling budesonide during postoperative mechanical ventilation can reduce the intensity of inflammatory reactions, shorten the duration of mechanical ventilation, reduce airway pressure and the utilization of NIV after extubation.

Atrial septal defect closure in children at young age is beneficial for left ventricular function.

Aims: Atrial septal defects (ASDs) lead to volume-loaded right ventricles (RVs). ASD closure does not always alleviate symptoms or improve exercise capacity, which is possibly explained by impaired left ventricular (LV) haemodynamics. This study evaluated the effect of ASD closure in children using non-invasive LV pressure-volume (PV) loops derived from cardiac magnetic resonance (CMR) imaging and brachial blood pressure, compared with controls. Methods and results: Twenty-three children with ASD underwent CMR, and 17 of them were re-examined 7 (6-9) months after ASD closure. Twelve controls were included. Haemodynamic variables were derived from PV loops by time-resolved LV volumes and brachial blood pressure. After ASD closure, LV volume increased [76 (70-86) vs. 63 (57-70) mL/m2, P = 0.0001]; however, it was still smaller than in controls [76 (70-86) vs. 82 (78-89) mL/m2, P = 0.048]. Compared with controls, children with ASD had higher contractility [2.6 (2.1-3.3) vs. 1.7 (1.5-2.2) mmHg/mL, P = 0.0076] and arterial elastance [2.1 (1.4-3.1) vs. 1.4 (1.2-2.0) mmHg/mL, P = 0.034]. After ASD closure, both contractility [2.0 (1.4-2.5) mmHg/mL, P = 0.0001] and arterial elastance [1.4 (1.3-2.0) mmHg/mL, P = 0.0002] decreased. Conclusion: Despite the left-to-right atrial shunt that leads to low LV filling and RV enlargement, the LV remains efficient and there is no evidence of impaired LV haemodynamics in children. Closure of ASD at young age while the ventricle is compliant is thus beneficial for LV function. LV volumes, however, remain small after ASD closure, which may impact long-term cardiovascular risk and exercise performance.

Right pulmonary artery originating from the ascending aorta with tetralogy of fallot and pulmonary atresia.

Key Clinical Message: Anomalous origin of right pulmonary artery from the ascending aorta is a rare congenital heart malformation that results in early infant mortality. These patients are at risk for the early development of significant pulmonary hypertension. The surgical management during the early period of life is imperative. Abstract: Anomalous pulmonary artery originating from the ascending aorta (often called hemitruncus) is a rare congenital cardiac defect requiring immediate management in the neonatal period. We report a case of a rare variant of anomalous right pulmonary artery originating from the ascending aorta in combination with pulmonary atresia and tetralogy of Fallot. The above-mentioned combination makes the surgical management of such cardiac defect exceedingly demanding.

The impact of congenital heart disease on treatment and survival of patients with hepatoblastoma: A single-center experience.

BACKGROUND: Patients with hepatoblastoma (HB) have a higher risk of congenital heart defects (CHD). There is limited literature on the management and outcomes of these patients. The purpose of this study was to identify demographics and outcomes of these patients in a single tertiary referral center. METHODS: An Institutional Review Board (IRB)-approved retrospective chart review of patients with newly diagnosed HB from October 2004 to January 2021 was performed. CHD was defined as the presence of a septal defect, patent ductus arteriosus, pulmonary atresia, or bicuspid aortic valve. Chi-square and t-test were utilized for statistical analyses. RESULTS: Of the 151 patients diagnosed with HB during the study timeframe, 29 patients were found to have CHD. Five-year overall survival (OS) for non-CHD HB patients was 81.9% compared to 68.9% in the CHD cohort (p = .12). The 5-year OS for patients without surgically intervened CHD was 63.6% compared to 70.5% for those with surgically repaired CHD (p = .88). Pre-treatment extent of tumor IV was present more often in patients with HB and CHD who passed away (6/9, 66.7%) compared to those who survived (3/16,18.8%, p = .01). CONCLUSIONS: Patients with HB and CHD have similar survival compared to those without CHD. Our data support that patients with HB and CHD should be treated with curative intent including cardiac surgical intervention, medical oncology therapy, and oncological surgery for their HB.

Nationwide Birth Prevalence of Crucial Congenital Heart Defects From 2014 to 2018 in Korea.

BACKGROUND AND OBJECTIVES: A comprehensive survey of congenital heart disease (CHD) prevalence has not yet been conducted in South Korea. This study aimed to investigate the prevalence of CHDs in Korean children and lay the foundation for national CHD epidemiology. METHODS: Target patients were infantile crucial CHDs, which include critical CHDs (requiring urgent procedures after birth with common hypoxemic defects) and diverse categorical defects excluding simple shunt defects. Data were obtained from the National Health Insurance Service over a 5-year period (2014-2018). Birth prevalence (new cases per 1,000 live births) of CHDs in Korea was analyzed and compared with that of other countries. RESULTS: The birth prevalences of right heart obstructive defects (pulmonary valve stenosis and pulmonary atresia), conus anomalies (tetralogy of Fallot and double outlet right ventricle), and total anomalous pulmonary venous return showed significant increases in the East Asian group (P < 0.001), whereas those of left heart obstructive defects (coarctation of aorta, aortic stenosis, and hypoplastic left heart syndrome), truncus anomalies (D-transposition of great artery and persistent truncus arteriosus), atrioventricular septal defect, and hypoplastic right heart syndrome were significantly decreased in the East Asian group (P < 0.001). CONCLUSIONS: The overall birth prevalence of crucial CHDs in Korea was similar to that of critical CHDs in previous studies from other countries. Some subtypes of right heart obstructive defects, left heart obstructive defects, and conotruncal anomalies showed significant differences between East Asian and Western populations. This study contributes to a foundation for national CHD epidemiology in Korean children.

Association of nurse-mother partnerships with parenting stress and family resilience among South Korean mothers of children with congenital heart disease.

PURPOSE: Advances in the management of congenital heart disease (CHD) have significantly decreased mortality rates, indicating a need for continuous care as a chronic condition throughout the child's lifespan. This study examined the association of nurse-mother partnerships with parenting stress and family resilience among South Korean mothers of children with CHD. DESIGN AND METHODS: This descriptive study involved 93 mothers of children aged six years or younger with CHD admitted to a hospital. Data were collected from September to November 2020 and analyzed using SPSS/WIN (version 29.0) for t-tests, analyses of variance, Pearson's correlation coefficient, and multiple regression analyses. RESULTS: The means and standard deviations of the nurse-mother partnership, parenting stress, and family resilience were 4.13 ± 0.47, 76.98 ± 16.6, and 56.54 ± 7.86 points, respectively. Parenting stress increased as the number of hospitalizations and surgeries increased and with complex types of CHD. Nurse-mother partnerships were stronger with longer hospital stays. Family resilience was higher with younger children, fewer rehospitalizations, and shorter hospital stays. A positive correlation was found between nurse-mother partnerships and family resilience, and a negative correlation between parenting stress and family resilience. Factors influencing parenting stress included family resilience, rehospitalizations, and complex types of CHD, and those affecting family resilience were nurse-mother partnerships, parenting stress, and the child's age. CONCLUSION: Nurse-mother partnerships significantly affect family resilience. PRACTICAL IMPLICATIONS: Enhancing nurse-mother partnerships can improve family resilience, which in turn can reduce parenting stress, thus offering guidance for future nursing interventions.

Rupture of a calcified right ventricle to pulmonary artery homograft by balloon dilation- emergency rescue by venus P-Valve.

BACKGROUND: Percutaneous pulmonary valve implantation (PPVI) is a recognized alternative treatment to surgery for patients with dysfunctional right ventricular outflow tracts. Patient selection is essential to avoid serious complications from attempted treatment, such as rupture or dissection, especially of the calcified outflow tracts. We describe a case with an unexpected rupture of a calcified homograft valve and main pulmonary artery, which was treated successfully by emergency implantation of a self-expanding Venus P-Valve (Venus MedTech, Hangzhou, China) without the need for pre-stenting with a covered stent. CASE DETAILS: A 13-year-old boy had two previous operations of tetralogy of Fallot, one a total repair and the other a homograft valved conduit for pulmonary regurgitation. He presented with dyspnea and severe right ventricular outflow tract obstruction (RVOTO) and had a calcified outflow tract and main pulmonary artery. In the catheter laboratory, a non-compliant balloon dilation resulted in a contained rupture of the conduit. The patient remained hemodynamically stable, and the rupture was treated with a self-expandable Venus P-Valve without the need for a covered stent combined with a balloon-expandable valve or a further surgical procedure. DISCUSSION: Preprocedural evaluation with an inflating balloon is necessary to examine tissue compliance and determine suitability for PPVI. However, this condition is accompanied by a risk of conduit rupture. Risk factors of this complication are calcification and homograft use. These ruptures are mostly controlled with a prophylactic or therapeutic covered stent, with a low rate of requiring surgery. However, there are severe ruptures which lead to hemothorax and death. In the available literature, there was no similar reported case of conduit rupture, which a self-expandable Pulmonary valve stent has managed. It seems that fibrosis and collagen tissue around the heart, formed after open surgeries, can contribute to the control of bleeding in these cases. CONCLUSION (CLINICAL LEARNING POINT): The suitability of patients for the PPVI procedure should be examined more carefully, specifically patients with homograft and calcification in their conduit. Furthermore, conduit rupture might be manageable with self-expandable artificial pulmonary valves, specifically in previously operated patients, and the applicability of this hypothesis is worth examining in future research.

Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

All reported ABL1 gain of function and loss of function (LOF) variants, impact both isoforms 1a and 1b. Our findings suggest that LOF variants affecting solely ABL1 isoform 1b may lead to a distinct autosomal recessive new phenotype.