Explore the vast range of titles available.

Heterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left–right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left–right organizer early in embryogenesis involving motile and non-motile cilia. It can be inherited as a single-gene disorder, a phenotypic feature of a known genetic syndrome or without any clear genetic etiology. Most patients with HTX have complex cardiovascular malformations requiring surgical intervention. Surgical risks are relatively high due to several serious comorbidities often seen in patients with HTX. Asplenia or functional hyposplenism significantly increase the risk for sepsis and therefore require antimicrobial prophylaxis and immediate medical attention with fever. Intestinal rotation abnormalities are common among patients with HTX, although volvulus is rare and surgical correction carries substantial risk. While routine screening for intestinal malrotation is not recommended, providers and families should promptly address symptoms concerning for volvulus and biliary atresia, another serious morbidity more common among patients with HTX. Many patients with HTX have chronic lung disease and should be screened for primary ciliary dyskinesia, a condition of respiratory cilia impairment leading to bronchiectasis. Mental health and neurodevelopmental conditions need to be carefully considered among this population of patients living with a substantial medical burden. Optimal care of children with HTX requires a cohesive team of primary care providers and experienced subspecialists collaborating to provide compassionate, standardized and evidence-based care. In this statement, subspecialty experts experienced in HTX care and research collaborated to provide expert- and evidence-based suggestions addressing the numerous medical issues affecting children living with HTX.

BackgroundLymphatic complications are common in patients with Fontan circulation. Three-dimensional balanced steady-state free precession (3D bSSFP) angiography by cardiovascular magnetic resonance (CMR) is widely used for cardiovascular anatomical assessment. We sought to determine the frequency of thoracic duct (TD) visualization using 3D bSSFP images and assess whether TD characteristics are associated with clinical outcomes.MethodsThis was a retrospective, single-center study of patients with Fontan circulation who underwent CMR. Frequency matching of age at CMR was used to construct a comparison group of patients with repaired tetralogy of Fallot (rTOF). TD characteristics included maximum diameter and a qualitative assessment of tortuosity. Clinical outcomes included protein-losing enteropathy (PLE), plastic bronchitis, listing for heart transplantation, and death. A composite outcome was defined as presence of any of these events.ResultsThe study included 189 Fontan patients (median age 16.1 years, IQR 11.0–23.2 years) and 36 rTOF patients (median age 15.7 years, IQR 11.1–23.7 years). The TD diameter was larger (median 2.50 vs. 1.95 mm, p = 0.002) and more often well visualized (65% vs. 22%, p < 0.001) in Fontan patients vs. rTOF patients. TD dimension increased mildly with age in Fontan patients, R = 0.19, p = 0.01. In Fontan patients, the TD diameter was larger in those with PLE vs. without PLE (age-adjusted mean 4.11 vs. 2.72, p = 0.005), and was more tortuous in those with NYHA class ≥ II vs. class I (moderate or greater tortuosity 75% vs. 28.5%, p = 0.02). Larger TD diameter was associated with a lower ventricular ejection fraction that was independent of age (partial correlation = − 0.22, p = 0.02). More tortuous TDs had a higher end-systolic volume (mean 70.0 mL/m2 vs. 57.3 mL/m2, p = 0.03), lower creatinine (mean 0.61 mg/dL vs. 0.70 mg/dL, p = 0.04), and a higher absolute lymphocyte count (mean 1.80 K cells/µL vs. 0.76 K cells/µL, p = 0.003). The composite outcome was present in 6% of Fontan patients and was not associated with TD diameter (p = 0.50) or tortuosity (p = 0.09).ConclusionsThe TD is well visualized in two-thirds of patients with Fontan circulation on 3D-bSSFP images. Larger TD diameter is associated with PLE and increased TD tortuosity is associated with an NYHA class ≥ II.

Morbidity and mortality remain high for patients with hypoplastic left heart syndrome during the interstage period between Norwood and Glenn despite ongoing QI efforts. We sought to identify associations between the site of interstage care, interstage events, and mortality. Data for patients enrolled in the National Pediatric Cardiology Quality Improvement Collaborative registry from July 2008 through February 2013 were reviewed. Patients had outpatient interstage care at (1) the surgical site (SS) performing Norwood, (2) a non-surgical site (NSS), or (3) a combination. Interstage events were compared among these groups and, when applicable, by distance from SS to NSS. 688 patients from 47 sites met entry criteria. Patients were followed at the SS 411 (60 %), NSS 121 (17 %), or a combination 143 (21 %). Data were not available for 13 (2 %). There were 66 deaths (10 %) among the entire cohort: 37 (9 %) at SS, 13 (11 %) at NSS, 15 (10 %) at a combination. The proportion of deaths among these groups was not statistically significant (p = 0.60), nor was there a difference based on SS-to-NSS distance. Patients followed at the SS were more likely to have problems detected with feeding (p = 0.03) and breathing (p = 0.002), and ED visits (p < 0.001). The site of interstage care was not associated with mortality, nor was there a difference based on SS-to-NSS distance. Patients followed at the SS had more detected breathing and feeding problems, and ED visits. Further study is required to elucidate the clinical significance of these differences.

ObjectiveWe sought to identify associations between prenatal care coordination (PNC) and outcomes in hypoplastic left heart syndrome (HLHS).Study designWe hypothesized that suboptimal PNC is associated with worse pre-operative status. HLHS patients from 2016 through 2019 were identified using a multicenter registry. Optimal PNC was defined as (1) a completed interdisciplinary conference and (2) closed-loop communication with the obstetric team. Associations between PNC and outcomes were identified.ResultsOf 1441 patients, 1242 (86%) had prenatal diagnosis. Among those with a prenatal diagnosis, PNC was achieved in only 845 (68%). Suboptimal PNC was associated with adverse events (50% vs 40%, p < 0.001), inotrope need (19% vs 13%, p = 0.007), mechanical ventilation (22% vs 16%, p = 0.016), and parenteral feeding (60% vs 46%, p < 0.001). African–American race and non-commercial insurance were associated with a lower likelihood of optimal PNC (p = 0.006 and p < 0.001, respectively).ConclusionImproving PNC and overcoming racial and socioeconomic barriers are important targets to improve HLHS perinatal care.

We sought to describe the fellowship experiences and current practice habits of pediatric cardiologists who counsel patients with fetal heart disease (FHD) and to identify fellowship experiences related to FHD counseling perceived as valuable by respondents as well as opportunities for improvement. A cross-sectional survey of attending pediatric cardiologists who care for patients with FHD was performed. The respondents’ demographics, fellowship experiences related to FHD counseling, reflections on fellowship training, and current practice habits were collected. The Fetal Heart Society endorsed this survey. There were 164 survey responses. 56% of respondents did not have 4th-year subspecialty training in fetal cardiology. Observing and performing FHD counseling were the most commonly used methods of training, with the highest perceived effectiveness. The number of counseling sessions observed and performed correlated moderately with confidence in FHD counseling skills at fellowship graduation. Extracardiac pathology and neurodevelopment were the least frequently addressed topics in fellowship training and in current practice. Fewer than 50% of respondents received formal education and feedback in counseling techniques during fellowship training. A significant proportion of practicing pediatric cardiologists provide FHD counseling with only standard categorical training. This highlights the potential importance of expanding FHD counseling education into categorical fellowship curricula. We suggest increasing opportunities for fellows to perform FHD counseling and receive feedback as this is a valued and beneficial experience during training. A formalized curriculum including extracardiac pathology and neurodevelopment and the use of evidence-based workshops in counseling techniques may address identified gaps in fellowship education.

Fetal aortic balloon valvuloplasty (FAV) has shown promise in averting progression of midgestation aortic stenosis (AS) to hypoplastic left heart syndrome in a subset of patients. Patients who achieve biventricular circulation after FAV frequently have left ventricular (LV) diastolic dysfunction (DD). This study evaluates DD in fetuses with AS by comparing echocardiographic indices of LV diastolic function in fetuses underwent FAV (n = 20) with controls (n = 40) and evaluates for LV factors associated with DD in patients with FAV. We also compared pre-FAV and post-FAV DD variables (n = 16). Median gestational age (24 weeks, range 18 to 29 weeks) and fetal heart rate were similar between FAV and controls. Compared with controls, patients with FAV had universally abnormal LV diastolic parameters including fused mitral inflow E and A waves (p = 0.008), higher E velocity (p <0.001), shorter mitral inflow time (p = 0.001), lower LV lateral annulus E′ (p <0.001), septal E′ (p = 0.003), and higher E/E′ (p <0.001) than controls. Patients with FAV had abnormal right ventricular mechanics with higher tricuspid inflow E velocity (p <0.001) and shorter tricuspid inflow time (p = 0.03). Worse LV diastolic function (lower LV E′) was associated with higher endocardial fibroelastosis grade (r = 0.74, p <0.001), large LV volume (r = 0.55, p = 0.013), and sphericity (r = 0.58, p = 0.009) and with lower LV pressure by mitral regurgitation jet (r = −0.68, p <0.001). Post-FAV, fewer patients had fused mitral inflow E and A than pre-FAV (p = 0.05) and septal E′ was higher (=0.04). In conclusion, fetuses with midgestation AS have evidence of marked DD. Worse DD is associated with larger, more spherical LV, with more extensive endocardial fibroelastosis and lower LV pressure.

Systemic to pulmonary arterial collaterals (SPC) are commonly found in patients undergoing staged operative palliation for single ventricle heart disease. Occlusion of SPC as part of pre-Fontan catheterization has been shown to improve hemodynamics acutely. Anecdotally, the effect of this intervention appears to be transient, and to our knowledge there is no data supporting its durability in these patients. Between 1/1/2016 and 5/1/2017, 24 children underwent Glenn operations at our institution. Of these, 3 patients had signs and symptoms deteriorating clinical status suggestive of volume overload in the period between their Glenn operation and Fontan completion, prompting heart catheterization. SPC were occluded with a combination of polyvinyl alcohol embolization particles, and in some cases coils or vascular plugs. Clinical course and data from echocardiograms and serial catheterizations are presented. SPC occlusion was performed over 6 procedures in 3 subjects with technical success in each case. Hemodynamic evaluation was repeated in 2/3 patients with improvement in collateral burden and hemodynamics in both cases. One patient previously thought to be unsuitable for Fontan completion improved sufficiently to undergo late Fontan completion, which was ultimately successful. In all patients, there was improvement in clinical status. In patients with severe SPC collateral durable benefit was seen, suggesting that in certain cases intervention on SPC remote from Fontan completion may have clinical benefit.

Introduction New paediatric cardiology trainees are required to rapidly assimilate knowledge and gain clinical skills to which they have limited or no exposure during residency. The Pediatric Cardiology Fellowship Boot Camp (PCBC) at Boston Children's Hospital was designed to provide incoming fellows with an intensive exposure to congenital cardiac pathology and a broad overview of major areas of paediatric cardiology practice. The PCBC curriculum was designed by core faculty in cardiac pathology, echocardiography, electrophysiology, interventional cardiology, exercise physiology, and cardiac intensive care. Individual faculty contributed learning objectives, which were refined by fellowship directors and used to build a programme of didactics, hands-on/simulation-based activities, and self-guided learning opportunities. A total of 16 incoming fellows participated in the 4-week boot camp, with no concurrent clinical responsibilities, over 2 years. On the basis of pre- and post-PCBC surveys, 80% of trainees strongly agreed that they felt more prepared for clinical responsibilities, and a similar percentage felt that PCBC should be offered to future incoming fellows. Fellows showed significant increase in their confidence in all specific knowledge and skills related to the learning objectives. Fellows rated hands-on learning experiences and simulation-based exercises most highly. We describe a novel 4-week-long boot camp designed to expose incoming paediatric cardiology fellows to the broad spectrum of knowledge and skills required for the practice of paediatric cardiology. The experience increased trainee confidence and sense of preparedness to begin fellowship-related responsibilities. Given that highly interactive activities were rated most highly, boot camps in paediatric cardiology should strongly emphasise these elements.

Surgical care for CHD is increasingly available in low- and middle-income countries, and efforts to optimise outcomes are growing. This study characterises cardiac imaging and prenatal diagnosis infrastructure in this setting. An infrastructure survey was administered to sites participating in the International Quality Improvement Collaborative for CHD. Questions regarding transthoracic, transesophageal and epicardial echocardiography, cardiac CT, cardiac magnetic resonance, prenatal screening and fetal echocardiography were included. Associations with in-hospital and 30-day mortality were assessed. Thirty-seven sites in 17 countries responded. Programme size and geography varied considerably: < 250 cases (n = 13), 250-500 cases (n = 9), > 500 cases (n = 15); Americas (n = 13), Asia (n = 18), and Eastern Europe (n = 6). All had access to transthoracic echo. Most reported transesophageal and epicardial echocardiography availability (86 and 89%, respectively). Most (81%) had cardiac CT, but only 54% had cardiac magnetic resonance. A third reported impediments to imaging, including lack of portable machines, age/size-appropriate equipment and advanced cardiac imaging access and training. Only 19% of centres reported universal prenatal CHD screening in their catchment area, and only 46% always performed fetal echocardiography if screening raised concern for CHD. No statistically significant associations were identified between imaging modality availability and surgical outcomes. Although access to echocardiography is available in most middle-income countries; advanced imaging modalities (cardiac CT and magnetic resonance) are not always accessible. Prenatal screening for CHD is low, and availability of fetal echocardiography is limited. Imaging infrastructure in low- and middle-income countries and associations with outcomes merits additional study.

Isomerism, also referred to as “heterotaxy” is a complex set of anatomic and functional perturbations. One of the most obvious manifestations of isomerism is the disturbance of organ arrangement, such that the thoracic organs are no longer asymmetric on the left and right. We report the case of a 14-year-old female in whom exercise-induced dyspnea led to a late diagnosis of left isomerism complicated by Abernethy malformation and portopulmonary hypertension. A comprehensive evaluation revealed two anatomic left lungs and hyparterial bronchi, bilateral left atria, an interrupted inferior caval vein with azygos continuation, multiple spleens, sinus node dysfunction, hepatic hypertrophy with focal nodular hyperplasia, and absence of the portal vein. Pulmonary vasodilator therapy was initiated resulting in clinical improvement. This case exhibits unique features including a late diagnosis of isomerism with Abernethy malformation and portopulmonary hypertension. The patient’s presentation, medical workup, and future treatment emphasise the importance of multidisciplinary care in children with complex multisystem disease. We review the multiple cardiac and extracardiac manifestations of isomerism.