Repaired Tetralogy of Fallot: Have We Understood the Right Timing of PVR?

Despite many advances in surgical repair during the past few decades, the majority of tetralogy of Fallot patients continue to experience residual hemodynamic and electrophysiological abnormalities. The actual issue, which has yet to be solved, is understanding how this disease evolves in each individual patient and, as a result, who is truly at risk of sudden death, as well as the proper timing of pulmonary valve replacement (PVR). Our responsibility should be to select the most appropriate time for each patient, going above and beyond imaging criteria used up to now to make such a clinically crucial decision. Despite several studies on timing, indications, procedures, and outcomes of PVR, there is still much uncertainty about whether PVR reduces arrhythmia burden or improves survival in these patients and how to appropriately manage this population. This review summarizes the most recent research on the evolution of repaired tetralogy of Fallot (from adolescence onwards) and risk factor variables that may favor or delay PVR.

How Will Artificial Intelligence Shape the Future of Decision-Making in Congenital Heart Disease?

Improvements in medical technology have significantly changed the management of congenital heart disease (CHD), offering novel tools to predict outcomes and personalize follow-up care. By using sophisticated imaging modalities, computational models and machine learning algorithms, clinicians can experiment with unprecedented insights into the complex anatomy and physiology of CHD. These tools enable early identification of high-risk patients, thus allowing timely, tailored interventions and improved outcomes. Additionally, the integration of genetic testing offers valuable prognostic information, helping in risk stratification and treatment optimisation. The birth of telemedicine platforms and remote monitoring devices facilitates customised follow-up care, enhancing patient engagement and reducing healthcare disparities. Taking into consideration challenges and ethical issues, clinicians can make the most of the full potential of artificial intelligence (AI) to further refine prognostic models, personalize care and improve long-term outcomes for patients with CHD. This narrative review aims to provide a comprehensive illustration of how AI has been implemented as a new technological method for enhancing the management of CHD.

Utility of Fetal Cardiac Resonance Imaging in Prenatal Clinical Practice: Current State of the Art.

The field of prenatal cardiac imaging has revolutionized the way we understand and manage congenital heart diseases (CHD) in the developing fetus. In the prenatal period, cardiac imaging plays a pivotal role in the diagnostic pathway, from screening to classification and follow-up of CHD. The ability to visualize the fetal heart in utero allows healthcare professionals to detect abnormalities early, thus enabling timely interventions and informed decision-making processes for both the mother and the medical team. Early CHD detection improves preparation for delivery, postnatal care, and postnatal outcomes. Advancements in medical technology and imaging techniques have provided clinicians with insights into the fascinating workings of the fetal heart. Several imaging modalities have proven to be helpful in this field, with echocardiography undoubtedly representing the primary modality for evaluating the fetus. By providing detailed anatomical and functional information, fetal cardiac magnetic resonance (CMR) imaging contributes to better prenatal counseling and enhances the coordination of care between obstetricians, maternal-fetal medicine specialists, and pediatric cardiologists. Shortcomings of fetal CMR are due to technical concerns related to the intrauterine position of the fetus and subsequent challenges to following a standard scan protocol. The aim of this paper was to revise the current state-of-the-art in the field of fetal CMR and its clinical applications and to delve into methods, challenges, and future directions of fetal CMR in prenatal imaging.

Childhood Obesity and Congenital Heart Disease: A Lifelong Struggle.

Congenital heart disease (CHD) affects approximately one in every one hundred infants worldwide, making it one of the most prevalent birth abnormalities globally. Despite advances in medical technology and treatment choices, CHD remains a significant health issue and necessitates specialized care throughout an individual's life. Childhood obesity has emerged as a novel global epidemic, becoming a major public health issue, particularly in individuals with lifelong conditions such as CHD. Obesity has profound effects on cardiac hemodynamics and morphology, emphasizing the importance of addressing obesity as a significant risk factor for cardiovascular health. Obesity-induced alterations in cardiac function can have significant implications for cardiovascular health and may contribute to the increased risk of heart-related complications in obese individuals. Moreover, while diastolic dysfunction may be less apparent in obese children compared to adults, certain parameters do indicate changes in early left ventricular relaxation, suggesting that obesity can cause cardiac dysfunction even in pediatric populations. As most children with CHD now survive into adulthood, there is also concern about environmental and behavioral health risk factors in this particular patient group. Addressing obesity in individuals with CHD is essential to optimize their cardiovascular health and overall quality of life. This review aims to succinctly present the data on the impact of obesity on CHD and to enhance awareness of this perilous association among patients, families, and healthcare providers.

Late left ventricular myocardial remodeling after pulmonary artery banding for end-stage dilated cardiomyopathy in infants: an imaging study.

BACKGROUND: Understanding the macroscopic biventricular changes induced by pulmonary artery banding (PAB) in children with dilated cardiomyopathy (DCM) represents the first step to unraveling the regenerative potential of the myocardium. We herein investigated the phases of left ventricular (LV) rehabilitation in PAB responders, using a systematic echocardiographic and cardiac magnetic imaging (CMRI) surveillance protocol. METHODS: We prospectively enrolled all patients with DCM treated with PAB from September-2015 at our institution. Among 9 patients, 7 positively responded to PAB and were selected. Transthoracic 2D echocardiography was performed before PAB; and 30, 60, 90, and 120 days after PAB; and at the last available follow-up. CMRI was performed before PAB (whenever possible) and one year after PAB. RESULTS: In PAB responders, LV ejection fraction showed a modest 10% increase 30-60 days after PAB, followed by its almost complete normalization after 120  days (median of 20[10-26]% vs 56[44.5-63.5]%, at baseline and 120 days after PAB, respectively). Parallelly, the LV end-diastolic volume decreased from a median of 146(87-204)ml/m2 to 48(40-50)ml/m2. At the last available follow-up (median of 1.5 years from PAB), both echocardiography and CMRI showed a sustained positive LV response, although myocardial fibrosis was detected in all patients. CONCLUSIONS: Echocardiography and CMRI show that PAB can promote a LV remodeling process, which starts slowly and can culminate in the normalization of LV contractility and dimensions 4 months later. These results are maintained up to 1.5 years. However, CMRI showed residual fibrosis as evidence of a past inflammatory injury whose prognostic significance is still uncertain.

Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.

BACKGROUND & AIMS: Hepatoblastoma (HB) and hepatocellular carcinoma (HCC) are the predominant liver cancers in children, though their respective treatment options and associated outcomes differ dramatically. Risk stratification using a combination of clinical, histological, and molecular parameters can improve treatment selection, but it is particularly challenging for tumors with mixed histological features, including those in the recently created hepatocellular neoplasm not otherwise specified (HCN NOS) provisional category. We aimed to perform the first molecular characterization of clinically annotated cases of HCN NOS. METHODS: We tested whether these histological features are associated with genetic alterations, cancer gene dysregulation, and outcomes. Namely, we compared the molecular features of HCN NOS, including copy number alterations, mutations, and gene expression profiles, with those in other pediatric hepatocellular neoplasms, including HBs and HCCs, as well as HBs demonstrating focal atypia or pleomorphism (HB FPAs), and HBs diagnosed in older children (>8). RESULTS: Molecular profiles of HCN NOS and HB FPAs revealed common underlying biological features that were previously observed in HCCs. Consequently, we designated these tumor types collectively as HBs with HCC features (HBCs). These tumors were associated with high mutation rates (∼3 somatic mutations/Mb) and were enriched with mutations and alterations in key cancer genes and pathways. In addition, recurrent large-scale chromosomal gains, including gains of chromosomal arms 2q (80%), 6p (70%), and 20p (70%), were observed. Overall, HBCs were associated with poor clinical outcomes. CONCLUSIONS: Our study indicates that histological features seen in HBCs are associated with combined molecular features of HB and HCC, that HBCs are associated with poor outcomes irrespective of patient age, and that transplanted patients are more likely to have good outcomes than those treated with chemotherapy and surgery alone. These findings highlight the importance of molecular testing and early therapeutic intervention for aggressive childhood hepatocellular neoplasms. LAY SUMMARY: We molecularly characterized a class of histologically aggressive childhood liver cancers and showed that these tumors are clinically aggressive and that their observed histological features are associated with underlying recurrent molecular features. We proposed a diagnostic algorithm to identify these cancers using a combination of histological and molecular features, and our analysis suggested that these cancers may benefit from specialized treatment strategies that may differ from treatment guidelines for other childhood liver cancers.

Vitamin D serum levels and the risk of digital ulcers in systemic sclerosis: A longitudinal study.

AIM: Low levels of vitamin D (25OHD) have been found to associated with digital ulcers (DUs) in systemic sclerosis (SSc), although only cross-sectional studies have been performed. We aimed to investigate if variations in vitamin D serum levels over time affect DU in SSc. METHODS: This is a retrospective study on 65 patients. 25OHD was measured in 2011 and 2016 and its variations correlated with DU. RESULTS: The mean age of our cohort was 58 (SD 12) years with a mean disease duration of 9.5 (5.3) years. Most of our patients had a limited SSc (69.2%). At baseline 50.8% and 41.5% after 5 years had 25OHD <30 ng/mL. Patients receiving supplementation (8750 IU/wk) at baseline numbered 39 (60.0%) and 45 (69.2%) at the end of follow up. Nevertheless, 31 (47.7%) had a decrease of 25OHD in 5 years. In univariate analysis, patients with incident DU had a decrease in 25OHD as compared to patients with no incident DU (-17.4 [37.0] vs 13.0 [89.5], P = 0.018). No differences in 25OHD variations were found for other disease characteristics. In multivariate analysis correcting for previous DU and modified Rodnan Skin Score at baseline, patients with a decrease in 25OHD had an increased risk of developing DU (odds ratio 16.6; 95% CI 1.7-164.5, P = 0.017). CONCLUSIONS: A decrease in 25OHD is associated with the risk of developing DUs. In addition, vitamin D supplementation with the doses currently recommended may be insufficient in SSc. Further studies in wider cohorts are needed to confirm these results.