Postoperative Outcomes of Fontan Operation in a Multicenter Italian Study. How Far Have We Gone? Early Outcomes After Fontan Operation.

Despite the clinical results of the Fontan operation have certainly improved, it still presents with an inherent surgical risk of death and early morbidities. This is a retrospective clinical study of children undergoing Fontan operation in 9 congenital cardiac centers in Italy between 1990 and 2023. Clinical and surgical data were collected via a dedicated RedCap database. Primary outcome was cohort's mortality, also considering different decades, while secondary outcomes were postoperative complications and reintervention. In the last 3 decades, there were 897 patients undergoing Fontan operation, M/F 512/384, median age: 4.5 years (IQR 3.3-6.4), median weight 16 kg (IQR 14-22). A first palliation was deemed necessary in 710 patients (80%), and most patients underwent a staged Fontan (93%); an extracardiac conduit was used in 790 patients (88%). Postoperative complications (mild to severe) occurred in 410 patients (46%), and early reinterventions were required in 66 patients (7.5%). Overall operative mortality was 1.7% (15 patients). Age at Fontan greater than 4 years was associated with an early need for transcatheter reintervention (adj p value = 0.037) and a higher incidence of postoperative complications (adj p value = 0.017). The Fontan operation has seen significant improvements in immediate outcomes, notably a remarkable reduction in overall mortality to just 1.35% in the last decade. While minor complications have remained steady, there has been a substantial decrease in major early complications, deaths, and the need for reinterventions. Notably, patients aged over 4 years seem to face a higher risk of postoperative morbidity, underscoring the critical role of age in preoperative assessment and management strategies for Fontan patients.

Rapid transesophageal atrial pacing for balloon aortic valvuloplasty in neonates and infants: A new technique for balloon stabilization.

Balloon aortic valvuloplasty (BAV) is preferred by most centers over surgery for the treatment of congenital valve stenosis, due to its less invasive nature and faster recovery time. A variety of techniques have been employed to induce a transient cardiac standstill and reduce longitudinal balloon displacement during valve dilatation. Rapid right ventricular (RV) pacing is an effective method to stabilize the balloon during aortic valvuloplasty and it is regularly used in older children and adults. Despite the evidence of its feasibility and efficacy, its use in neonates and infants is still not widespread globally as it is associated with certain drawbacks in this population. We report the use of a new technique to achieve balloon stabilization during BAV in neonates and infants. Four patients with severe congenital aortic valve stenosis were treated with percutaneous BAV using rapid transesophageal atrial pacing. Rapid atrial pacing was performed in asynchronous modality at a rate which resulted in a drop of the systemic arterial pressure by 50%. The balloon was inflated only after the set pacing rate was reached. The pacing was continued until the balloon was completely deflated. No ventricular arrhythmia occurred. Fluoroscopy time was not influenced by transesophageal pacing. Mild aortic regurgitation developed in only one case. Rapid transesophageal atrial pacing was safe and allowed a significant relief of left ventricular obstruction while minimizing aortic regurgitation. Compared to RV pacing, it does not require additional vascular access. Moreover, transesophageal pacing is not at risk of cardiac or vascular perforation and ventricular arrhythmias.

Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.

BACKGROUND: Filamin A (FLNA) is an intracellular actin-binding protein, encoded by the FLNA gene, with a wide tissue expression. It is involved in several cellular functions, and extracellular matrix structuring. FLNA gene alterations lead to diseases with a wide phenotypic spectrum, such as brain periventricular nodular heterotopia (PVNH), cardiovascular abnormalities, skeletal dysplasia, and lung involvement. CLINICAL FINDINGS: We present the case of a female infant who showed at birth aortic valve stenosis and PVNH, and subsequently developed interstitial lung disease with severe pulmonary hypertension. PRIMARY DIAGNOSIS: The association of aortic valve dysplasia, left ventricular outflow obstruction, persistent patent ductus arteriosus, and brain heterotopic gray matter suggested a possible FLNA gene alteration. A novel heterozygous intronic variant in the FLNA gene (NM_001110556.1), c.4304-1G >A, was detected. INTERVENTIONS: In consideration of valve morphology and severity of stenosis, the neonate was scheduled for a transcatheter aortic valvuloplasty. At 3 months of life, she developed hypoxemic respiratory failure with evidence of severe pulmonary hypertension. Inhaled nitric oxide (iNO) and milrinone on continuous infusion were started. Because of a partial response to iNO, an intravenous continuous infusion of sildenafil was introduced. OUTCOMES: In consideration of severe clinical course and fatal outcome, the new FLNA gene mutation described in our patient seems to be associated with a loss of function of FLNA. PRACTICE RECOMMENDATIONS: Lung and brain involvement, in association with left ventricular outflow obstruction and persistent patency of ductus arteriosus, should be considered highly suggestive of FLNA gene alterations, in a female newborn.

Percutaneous treatment of a double-drainage scimitar-like syndrome.

Scimitar syndrome is a rare variant of anomalous right pulmonary vein connection to the inferior vena cava and it is associated with other cardiopulmonary anomalies. It generally requires surgery and sometimes it may go unrecognised into adulthood. We report a unique case of a scimitar syndrome variant in a young adult, who was successfully treated percutaneously, after the first misdiagnosis of arrhythmogenic ventricular cardiomyopathy. The cardiac magnetic resonance unveiled the uncommon anatomical pattern, avoiding surgical repair. Cross-sectional imaging is extremely useful in the diagnosis and treatment planning of CHD in adults.

Local device infection successfully treated without pacemaker removal in a neonate: a case report.

AIMS: Local device infection is a serious complication, especially in neonates. Complete device removal is the gold standard treatment for cardiac device infection; however, in selected cases alternative strategies could be adopted. We describe a case of a 14-day-old neonate, weighing 2.5kg, who had undergone epicardial double chamber pacemaker implantation for a congenital complete atrioventricular block. The generator pocket was created in the epigastric area below the rectus abdominis. At six days after implantation, pocket infection was found; blood cultures and the transoesophageal echocardiogram were normal. Due to the low weight of the neonate, and the limited possibility of finding a new comfortable site for housing the generator far from the infected area, we opted for a conservative strategy. We successfully applied a combination of antibiotic therapy, a vacuum-assisted wound closure system (KCI, Germany) for 40 days, and then skin transfer flap from the right flank without device removal. At one-year follow-up there were no local or systemic signs of infection.

A situs solitus transposition of great arteries with obstructed sub-diaphragmatic totally anomalous pulmonary venous connection: a rare case treated with anatomical repair.

Transposition of the great arteries combined with totally anomalous pulmonary venous connection is extremely rare outside of heterotaxy syndrome. Most reported cases have been treated by a modified atrial switch operation. We report the successful treatment of a neonate with this rare association, repaired by arterial switch operation and connection of the pulmonary venous return to the left atrium.

Endomyocardial biopsy safety and clinical yield in pediatric myocarditis: An Italian perspective.

OBJECTIVES: The objective of this investigation is to evaluate the safety, the impact of endomyocardial biopsy (EMB) results in myocarditis management and the incidence of different etiologies of myocarditis in a pediatric population. BACKGROUND: Although EMB is an established diagnostic tool to evaluate suspected myocarditis, there is lack of clear diagnostic and management guidelines for myocarditis in pediatric patients, particularly in infants. METHODS: We performed a retrospective database review and subsequent outcomes analysis from five Italian pediatric cardiology centers to identify patients aged 0-18 years who underwent EMB for suspected myocarditis or inflammatory cardiomyopathy (ICMP) between 2009 and 2011. RESULTS: EMB was performed in 41 children, of which 16 were male. The population ranged between 16 days of age to 17 years (mean age at EMB = 5.2 ± 4.9 years). The overall incidence of EMB-related complications was 15.5% (31.2% in infants, and 6.8% in children > 1 year of age; P = 0.079) while the incidence of EMB-driven treatment changes was 29.2%. Histological examination together with PCR on heart biopsy specimens allowed an etiological diagnosis in 26/41 patients (63%). Among the 15 patients (36.5%) with diagnosis of dilated cardiomyopathy (DCM) 11 had idiopathic DCM. Finally, we found an overall incidence of death/cardiac transplantation of 24%. CONCLUSIONS: In a pediatric population with suspected myocarditis/ICMP, EMB was useful in confirming the diagnosis only in 41% of cases but showed an overall diagnostic power of 63%. As complications of EBM are not negligible, particularly in infants, the risk/benefit ratio should be taken into account in each patient.

Cardiac Phenotype and Gene Mutations in RASopathies.

Cardiac involvement is a major feature of RASopathies, a group of phenotypically overlapping syndromes caused by germline mutations in genes encoding components of the RAS/MAPK (mitogen-activated protein kinase) signaling pathway. In particular, Noonan syndrome (NS) is associated with a wide spectrum of cardiac pathologies ranging from congenital heart disease (CHD), present in approximately 80% of patients, to hypertrophic cardiomyopathy (HCM), observed in approximately 20% of patients. Genotype-cardiac phenotype correlations are frequently described, and they are useful indicators in predicting the prognosis concerning cardiac disease over the lifetime. The aim of this review is to clarify the molecular mechanisms underlying the development of cardiac diseases associated particularly with NS, and to discuss the main morphological and clinical characteristics of the two most frequent cardiac disorders, namely pulmonary valve stenosis (PVS) and HCM. We will also report the genotype-phenotype correlation and its implications for prognosis and treatment. Knowing the molecular mechanisms responsible for the genotype-phenotype correlation is key to developing possible targeted therapies. We will briefly address the first experiences of targeted HCM treatment using RAS/MAPK pathway inhibitors.

[Italian Society of Pediatric Cardiology (SICP) position paper on the prevention, diagnosis, treatment and follow-up of cardiotoxicity in pediatric patients with cancer]. / Position paper della Società Italiana di Cardiologia Pediatrica (SICP) su prevenzione, diagnosi, trattamento e follow-up della cardiotossicità nei pazienti oncologici pediatrici.

The survival of pediatric cancer patients has significantly increased thanks to the improvement of oncological treatments. Therefore, it is of utmost importance to manage short- and long-term cardiovascular complications. In pediatric cardio-oncology, there are no recognized guidelines as in adults. Several recommendations and many indications have been derived from the data obtained in the adult cancer population, resulting in greater discrepancies in the clinical management of patients. The aim of this position paper of the Italian Society of Pediatric Cardiology (SICP) is to collect the main evidence regarding the diagnosis, prevention, treatment and follow-up of cardiotoxicity in children, to provide useful indications for clinical practice, and to promote a network between pediatric centers.

Stent strut breakage using high-pressure balloons for bifurcation stenting and subsequent percutaneous pulmonary valve replacement using the Edwards Sapien THV.

This report describes the use of the Edwards Sapien THV in a patient who had a short regurgitant/stenotic homograft with early bifurcation stenoses of the pulmonary arteries. A 48-mm AndraStent was positioned in the right pulmonary artery-homograft jailing the left pulmonary artery (LPA). To have an unobstructed access to the LPA, the stent strut leading to the LPA was broken using high-pressure balloon. A 23-mm Edwards Sapien THV was positioned in the stented homograft just proximal to the LPA origin with resolution of the stenosis and regurgitation.

Transcatheter Interventions for Neonates with Congenital Heart Disease: A Review.

Newborns with congenital heart disease often require interventions linked to high morbidity and mortality rates. In the last few decades, many transcatheter interventions have become the first-line treatments for some critical conditions in the neonatal period. A catheter-based approach provides several advantages in terms of procedural time, length of hospitalization, repeatability and neurodevelopmental issues (usually related to cardiopulmonary bypass). The main transcatheter procedures will be reviewed, as they are now valid alternatives to conventional surgical management.

Incidence and Prevalence of Multisystem Inflammatory Syndrome in Children (MIS-C) in Southern Italy.

Multisystem inflammatory syndrome in children (MIS-C) is a pediatric hyperinflammatory syndrome related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection whose epidemiology is not very well known at present. The objective of the study was to better understand the incidence of MIS-C in the Apulia region in southern Italy. Our primary goal was to estimate the incidence of newly identified cases of MIS-C in children aged 0-18 years, during a period of six months, encompassing the second pandemic wave. We also analyzed the characteristics of our cohort in terms of clinical features, treatment, and outcomes. The cumulative incidence of MIS-C was 3.27 per 100,000 residents between 0 and 18 years of age. In our cohort, gastrointestinal, mucocutaneous, and cardiac involvement were the most common clinical features. With our step-up approach to therapy, no patients required intensive care unit (ICU) admission and no cardiac sequelae after 6 months of onset were found in echocardiograms. Conclusion: Our epidemiological study of MIS-C in southern Italy showed unexpectedly overlapping figures with other US studies.

[Heart involvement in multisystem inflammatory syndrome in children correlated with SARS-CoV-2 infection: a review by ANMCO/SICP]. / Le manifestazioni cardiache nella sindrome multisistemica infiammatoria del bambino correlate all'infezione da SARS-CoV-2: una rassegna a cura di ANMCO/SICP.

Acute clinical manifestations of COVID-19 are generally less severe in childhood, however a proportion of them can develop a severe systemic hyperinflammatory syndrome after SARS-CoV-2 infection, known as the multisystem inflammatory syndrome (multisystem inflammatory syndrome in children, MIS-C). Cardiovascular manifestations in MIS-C are frequent (34-82%), including myocardial dysfunction, coronary artery dilation or aneurysms, arrhythmias, conduction abnormalities, pericarditis and valvulitis. The most affected cases can develop cardiogenic shock needing intensive care unit admission, inotropic support and sometimes even mechanical circulatory support. The elevation of myocardial necrosis markers, the frequently transient left ventricular systolic dysfunction and the presence of changes on magnetic resonance imaging, support the hypothesis of an immune-mediated post-viral pathogenesis similar to myocarditis. Although MIS-C shows excellent short-term survival, further studies are needed to demonstrate complete reversibility of residual subclinical heart damage.

Off-Label Use of Cardiovascular Drugs in the Home Therapy of Children With Congenital or Acquired Heart Disease.

Most medications are not labeled for use in the pediatric population because they have not been formally studied in children. Data on off-label use of cardiovascular (CV) drugs in the home therapy of children with CV disease are scanty. The study included 325 pediatric patients with CV disease and on ≥1 CV medication who underwent ≥1 visit during 2019 at the Pediatric Cardiology outpatient clinic of Giovanni XXIII Pediatric Hospital in Bari, Italy. A total of 287 patients (88.3%) received ≥1 off-label medication, whereas 113 patients (34.7%) received ≥2 off-label medications, and 22 patients (6.7%) ≥3 off-label medications. In CV medications (n = 27) 85% were used off-label in all cases, and 92.5% were used off-label in ≥50% of patients. Adverse events occurred in 8 patients, leading to drug discontinuation in 2 of them. In all 8 cases, medications were used off-label. In multivariate analysis, congenital heart disease patients with single-ventricle physiology (odds ratio 8.4, 95% confidence interval 2.25 to 54.4) and those with heart failure (odds ratio 2.0, 95% confidence interval 1.1 to 3.6) were at higher risk for receiving ≥2 off-label drugs. The off-label use of CV drugs in the home therapy of children with congenital or acquired heart disease is common and adverse events may occur. Patients with congenital heart disease with single-ventricle physiology and those with heart failure have a higher probability to receive ≥2 off-label medications. This study highlights the need for larger safety and efficacy trials in this specific cohort of pediatric patients.

A large basal left ventricular pseudoaneurysm following pediatric cardiac surgery.

Left ventricular pseudoaneurysm (LV-PSA) is a rare complication in children, usually developing after cardiac surgery, percutaneous procedures, infections, or trauma. Herein, we report a case of large basal submitral LV-PSA in a 36-day-old baby, detected 26 days after cardiac operation for hypoplastic arch, aortic coarctation, and small ventricular septal defect. No complications occurred in the first postoperative course, and early postoperative echocardiograms were normal. Despite large dimension of pseudoaneurysm, the baby presented with only mild tachypnea. The baby was successfully operated. Pseudoaneurysm, besides rare, could have an extremely broad and insidious clinical presentation and had to be considered in post-cardiac surgery follow-up echocardiogram at any time lapse.

Efficacy of sildenafil and high-dose anakinra in an MIS-C patient with pulmonary vasculitis: A case report.

Multisystem inflammatory syndrome in children (MIS-C) is a newly identified clinical entity still not very well known in terms of epidemiology, pathogenesis, and long-term outcome. Pulmonary involvement with acute respiratory failure is an unusual life-threatening complication of MIS-C, often a reason for admission to the pediatric intensive care unit (PICU) and the use of mechanical ventilation. We present a case of a 7-year-old male patient, previously healthy, hospitalized for MIS-C, treated with intravenous immunoglobulins (IVIG), high dose methylprednisolone, and anakinra. After 2 days of the aforementioned therapy, the patient presented with hypoxia (SatO2: 85% in ambient air room) and breathing difficulties. A chest computed tomography (CT) scan showed the presence of multiple bilateral basal parenchymal thickening and small basal pleural effusion and an arterial blood gas analysis revealed severe hypoxia (PaO2/FiO2 ratio, 170 mmHg). Because of a worsening of respiratory distress, the patient was transferred to the PICU, where invasive mechanical ventilation and a continuous infusion of anakinra (12 mg/kg/day) were started. An echocardiogram was performed, which showed an increase in pulmonary pressure (40 mmHg) with normal heart ejection fraction (55%), and the hypothesis of pulmonary vasculitis involving the pulmonary arterioles was made. Therefore, therapy with sildenafil (0.15 mg/kg/day) was promptly set up, with an immediate improvement of the clinical picture of respiratory failure, reduction of pulmonary pressure (23 mmHg), and subsequent extubation at 36 h with a regular clinical course until discharge. As far as we know, our case represents the first report of pulmonary vasculitis in an MIS-C patient. The use of sildenafil and high-dose continuous anakinra may represent a rescue therapy in cases of MIS-C with pulmonary vasculitis or with difficulty in extubation, allowing a short-term hospitalization in intensive care and improving the long-term outcome in these patients.

[Proposal of a common model for informed consent for interventional procedures in congenital heart disease patients]. / Proposta di un modello comune al consenso informato per le procedure di emodinamica nel cardiopatico congenito.

BACKGROUND: A multidisciplinary study group involving physicians and jurists was established to review and approve an informed consent about the most frequent interventional procedures for congenital heart diseases. METHODS: The authors worked together with representatives of the Italian Society of Pediatric Cardiology and Congenital Heart Disease (SICP) Council and Jurist's expert in the field of health case-law. The final draft was shared with the major Italian centers involved in congenital interventional procedures and with AICCA, the Italian Patients Association of Congenital Heart Diseases - Adults and Children. RESULTS: At the end of this review process, a final informed consent form was developed for the most frequent procedures performed in our catheterization laboratories. All of them consist of two parts: a general statement and a procedure-related one. CONCLUSIONS: The work performed by this multidisciplinary study group, under the supervision of the SICP, resulted in a new dedicated informed consent about interventional procedures in the field of congenital cardiology, taking into account the new legal requests. This informed consent is intended to be both a document that can be used as such and a document from which to derive a specific document for each center. We believe that using similar informed consents in all Congenital Heart Disease Centers or at least have informed consents all inspired by the same setting, could be a further improvement in taking care of the patients and their families.

[Treatment of heart failure in adult congenital heart disease]. / Terapia dello scompenso cardiaco nelle cardiopatie congenite dell'adulto.

The progressive shifting in adult patients with congenital heart disease (ACHD) epidemiology with aging and superimposed acquired cardiac pathology on top of complex congenital heart defects is leading to an increase of hospitalizations for heart failure (HF), which nowadays represents one of the main causes of death in this patient population. Although there is a theoretical evidence to support the use of conventional drugs indicated for the general population with HF, randomized controlled trials do often exclude ACHD patients. Anatomical and physiological heterogeneity makes it difficult to define the role of cardiac resynchronization, and indications are less established. Timing of assessment for heart transplantation is challenging and referral often occurs too late. The present review wants to offer a summary of current therapeutic strategies and discuss future perspectives for ACHD-related HF treatment.

Resilience and response of the congenital cardiac network in Italy during the COVID-19 pandemic.

: The worldwide response to the current COVID-19 pandemic has been focused on how to prevent the disease and to protect the high-risk patient from a potentially lethal infection. Several consensus and guidelines articles have been published dealing with the cardiac patient with systemic hypertension, heart transplant or heart failure. Very little is known about the patients, both in the pediatric as well as in the adult age, with congenital heart disease. The peculiar physiology of the heart with a native, repaired or palliated congenital heart defect deserves a specialized care. Hereby we describe the early recommendations issued by the Italian Society of Pediatric Cardiology and Congenital Heart Disease and how the network of the congenital cardiac institutions in Italy reacted to the threat of potential wide spread of the infection among this fragile kind of patient.