Hereditary haemorrhagic telangiectasia: A primer for the paediatrician.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by small telangiectasias and larger multisystem arteriovenous malformations (AVMs). Common sites of AVMs include in the nose, lungs, brain and liver. These lesions are prone to rupture, leading to complications including recurrent epistaxis and significant haemorrhage. Pulmonary hypertension (PH) can also occur. This review presents an update on the genetics, clinical manifestations, management options, and screening recommendations for children with HHT.

A Comparison of Ductal Stenting and Surgical Shunts for Infants with Duct-Dependent Pulmonary Blood Flow: The Impact of Single Versus Biventricular Repair Pathways on Outcomes.

Ductal stenting (DS) is an alternative to the Blalock-Taussig-Thomas Shunt (BTTS) as initial palliation for congenital heart disease with duct-dependent pulmonary blood flow (DDBPF). We sought to analyze the impact of intended single ventricle (SV) and biventricular (BiV) repair pathways on the outcome of DS and BTTS in infants with DDPBF. A single-center, retrospective comparison of infants with DDPBF who underwent either DS (2012-2022) or BTTS procedures (2013-2017). Primary outcomes included all-cause mortality and risk of unplanned re-intervention. Participants were divided into four groups: 1.SV with DS, 2.SV with BTTS, 3.BiV with DS, and 4.BiV with BTTS. Fifty-one DS (SV 45%) and 86 BTTS (SV 49%) procedures were undertaken. For those who had DS, mortality was lower in the BiV compared to SV patients (BiV: 0/28, versus SV: 4/23, p = 0.04). Compared to BiV DS, BiV BTTS had a higher risk of combined death or unplanned re-intervention (HR 4.28; CI 1.25-14.60; p = 0.02). In SV participants, there was no difference for either primary outcome based on procedure type. DS was associated with shorter intensive care length of stay for SV participants (mean difference 5 days, p = 0.01) and shorter intensive care and hospital stay for BiV participants (mean difference 11 days for both outcomes, p = 0.001). There is a survival benefit for DS in BiV participants compared with DS in SV and BTTS in BiV participants. Ductal stenting is associated with a shorter intensive care and hospital length of stay.

An Opportunity to See the Heart Defect Physically: Medical Student Experiences of Technology-Enhanced Learning with 3D Printed Models of Congenital Heart Disease.

Three-dimensional (3D) printing is increasingly used in medical education and paediatric cardiology. A technology-enhanced learning (TEL) module was designed to accompany 3D printed models of congenital heart disease (CHD) to aid in the teaching of medical students. There are few studies evaluating the attitudes and perceptions of medical students regarding their experience of learning about CHD using 3D printing. This study aimed to explore senior medical students' experiences in learning about paediatric cardiology through a workshop involving 3D printed models of CHD supported by TEL in the form of online case-based learning. A mixed-methods evaluation was undertaken involving a post-workshop questionnaire (n = 94 students), and focus groups (n = 16 students). Focus group and free-text questionnaire responses underwent thematic analysis. Questionnaire responses demonstrated widespread user satisfaction; 91 (97%) students agreed that the workshop was a valuable experience. The highest-level satisfaction was for the physical 3D printed models, the clinical case-based learning, and opportunity for peer collaboration. Thematic analysis identified five key themes: a variable experience of prior learning, interplay between physical and online models, flexible and novel workshop structure, workshop supported the learning outcomes, and future opportunities for learning using 3D printing. A key novel finding was that students indicated the module increased their confidence to teach others about CHD and recommended expansion to other parts of the curriculum. 3D printed models of CHD are a valuable learning resource and contribute to the richness and enjoyment of medical student learning, with widespread satisfaction. Supplementary Information: The online version contains supplementary material available at 10.1007/s40670-023-01840-w.

Right Ventricular Outflow Tract Stenting is a Safe and Effective Bridge to Definitive Repair in Symptomatic Infants With Tetralogy of Fallot1.

INTRODUCTION: Right ventricular outflow tract (RVOT) stent angioplasty is a palliative procedure for neonates and infants with symptomatic tetralogy of Fallot prior to surgical repair. We review our institutional outcomes of RVOT stenting. METHODS: Retrospective review of all infants with tetralogy of Fallot under 3 months of age who underwent primary native RVOT stent angioplasty at The Children's Hospital at Westmead, Sydney, Australia between January 2010 and December 2020. Demographics and echocardiographic pulmonary artery dimensions were collected pre-stent angioplasty and prior to surgical repair. RESULTS: Twenty (20) infants underwent primary RVOT stenting. Median age at stent was 14 days (interquartile range [IQR] 7-32) and median weight 2.7 kg (IQR 2.1-3.4). Three patients underwent hybrid per-ventricular procedures. Indication for RVOT stenting was recurrent hyper-cyanotic spells in 12 (60%) and duct-dependent pulmonary blood flow in 8 (40%). Saturations increased from a median of 80% (IQR 75-85) to 91% (IQR 90-95) post procedure (P<0.001). A single major complication occurred: transient complete atrioventricular dissociation requiring isoprenaline infusion for <24 hours. Twelve (12, 60%) required catheter re-intervention prior to definitive repair for further augmentation of pulmonary blood flow. There were two non-cardiac deaths distant from the stent procedure, but prior to surgical repair. Median right and left pulmonary artery Z-scores increased respectively from -2.06 (IQR -2.99 to -0.17) and -1.2 (IQR -2.59 to -0.14) prior to RVOT stent, to -0.74 (IQR [-1.21 to 0.26], P=0.01) and 0.06 (IQR [-1.87 to 1.15], P=0.006) by the time of definitive repair. Eighteen (18) patients achieved definitive repair at a median age of 6.1 months (IQR 4.7-7.3). Palliation with more than one RVOT stent was associated with an increased duration of cardiac bypass (P=0.035) and cross-clamp (P=0.044) time at definitive repair. CONCLUSIONS: In symptomatic neonates and infants with tetralogy of Fallot at high-risk of peri-operative complications, RVOT stent angioplasty can safely and effectively augment pulmonary blood flow prior to definitive repair.

A Global Perspective on PDA Management in the Extremely Premature: Shifting Trend Toward Transcatheter Closure.

Patent ductus arteriosus (PDA) is a frequently encountered defect in infants born extremely premature (≤26 weeks' gestation). Historically, closure of the PDA was performed using cyclooxygenase inhibitor medications or by surgical ligations. However, the benefits of PDA closure using these therapies have never been demonstrated, albeit studies have previously not focused on the extremely premature infants. Therefore, there was a worldwide trend toward conservative management of the PDA. With improved survival of extremely premature infants, comorbidities associated with the PDA has increased, resulting in finding alternate treatments such as transcatheter patent ductus arteriosus closure (TCPC) for this population. Currently, there is a renewed interest toward selective treatment of the PDA in this high-risk cohort of small infants. This Comprehensive Review article inspects the globally changing trends in the management of the PDA in premature infants, with a special focus on the rising adoption of TCPC. Moreover, this article compiles data from several neonatal networks worldwide to help understand the problem at hand. Understanding the current management of premature infants and their outcomes is fundamentally essential if pediatric cardiologists are to offer TCPC as a viable therapeutic option for this population. This article aims to serve as a guide for pediatric cardiologists on this topic by compiling the results on landmark clinical trials on PDA management and the controversies that arise from these trials. Comparative outcomes from several countries are presented, including interpretations and opinions of the data from experts globally. This is a step toward coming to a global consensus in PDA management in premature infants.

A new era of genetic testing in congenital heart disease: A review.

Genetic and genomic testing in pediatric CHD is becoming increasingly routine, and can have important psychosocial, clinical and reproductive implications. In this paper we highlight important challenges and considerations when providing genetics consults and testing in pediatric CHD and illustrate the role of a dedicated CHD genetics clinic. Key lessons include that a) a genetic diagnosis can have clinical utility that justifies testing early in life, b) adequate genetic counselling is crucial to ensure families are supported, understand the range of possible results, and are prepared for new or unexpected health information, and c) further integration of the clinical genetics and cardiology workflows will be required to effectively manage the burgeoning information arising from genetic testing. Our experience demonstrates that a dedicated CHD genetics clinic is a valuable addition to a multidisciplinary team providing care to children with CHD.

Assessment of Central Arterial Hemodynamics in Children: Comparison of Noninvasive and Invasive Measurements.

BACKGROUND: In adults, central systolic blood pressure (cSBP) and augmentation index (cAIx) are independently associated with cardiovascular events and mortality. There is increasing interest in central hemodynamic indices in children. We aimed to assess the accuracy of current techniques against invasive intra-aortic measurements in children. METHODS: Intra-aortic pressure waveforms were recorded with simultaneous brachial, radial, and carotid waveforms in 29 children (6.7 ± 3.9 years old) undergoing cardiac catheterization. Adult and age-appropriate transfer functions (TFs) (brachial adult: b-aTF; radial adult: r-aTF; radial for 8-year-old children: TF8; and radial for 14-year-old children: TF14) were used to synthesize central aortic waveforms from peripheral waveforms calibrated either to invasively or noninvasively recorded BP. Central hemodynamic indices were measured by pulse wave analysis. RESULTS: cSBP measured from invasively calibrated r-aTF (ß = 0.84; intraclass correlation coefficient = 0.91; mean error ± SDD = -1.0 ± 5.0 mm Hg), TF8 (ß = 0.78; intraclass correlation coefficient = 0.84; mean error ± SDD = 4.4 ± 5.6 mm Hg), and TF14 (ß = 0.82; intraclass correlation coefficient = 0.90; mean error ± SDD = 2.0 ± 4.7 mm Hg)-synthesized central waveforms correlated with and accurately estimated intra-aortic cSBP measurements, while noninvasively calibrated waveforms did not. cAIx derived from TF-synthesized central waveforms did not correlate with intra-aortic cAIx values, and degree of error was TF-dependent. CONCLUSIONS: The currently available r-aTF accurately estimates cSBP with invasive pulse pressure calibration, while. Age-appropriate TFs do not appear to provide additional benefit. Accuracy of cAIx estimation appears to be TF dependent.

Double drainage of total anomalous pulmonary venous connection: A rare variant of mixed total anomalous pulmonary venous connection.

Total Anomalous Pulmonary Venous Connection (TAPVC) is frequently classified based on the system proposed by Craig, Darling and Rothney. Occasionally variants are reported which do not fit into these classic forms. One such variant is the double drainage of TAPVC where the confluence has connections at two different levels. We report two infants with a double drainage pattern of TAPVC.

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

Cantú syndrome (CS), characterized by hypertrichosis, distinctive facial features, and complex cardiovascular abnormalities, is caused by pathogenic variants in ABCC9 and KCNJ8 genes. These genes encode gain-of-function mutations in the regulatory (SUR2) and pore-forming (Kir6.1) subunits of KATP channels, respectively, suggesting that channel-blocking sulfonylureas could be a viable therapy. Here we report a neonate with CS, carrying a heterozygous ABCC9 variant (c.3347G>A, p.Arg1116His), born prematurely at 32 weeks gestation. Initial echocardiogram revealed a large patent ductus arteriosus (PDA), and high pulmonary pressures with enlarged right ventricle. He initially received surfactant and continuous positive airway pressure ventilation and was invasively ventilated for 4 weeks, until PDA ligation. After surgery, he still had ongoing bilevel positive airway pressure (BiPAP) requirement, but was subsequently weaned to nocturnal BiPAP. He was treated for pulmonary hypertension with Sildenafil, but failed to make further clinical improvement. A therapeutic glibenclamide trial was commenced in week 11 (initial dose of 0.05 mg-1 kg-1 day-1 in two divided doses). After 1 week of treatment, he began to tolerate time off BiPAP when awake, and edema improved. Glibenclamide was well tolerated, and the dose was slowly increased to 0.15 mg-1 kg-1 day-1 over the next 12 weeks. Mild transient hypoglycemia was observed, but there was no cardiovascular dysfunction. Confirmation of therapeutic benefit will require studies of more CS patients but, based on this limited experience, consideration should be given to glibenclamide as CS therapy, although problems associated with prematurity, and complications of hypoglycemia, might limit outcome in critically ill neonates with CS.