RESUMEN
Supraventricular arrhythmias have become an increasingly significant contributor to the risk of mortality and morbidity in adults with complex congenital heart disease (CHD), especially in light of recent advances in palliative corrective surgeries. Because of their unique characteristics, they demand specific treatment approaches. While pharmaco-logical interventions are an option, they have limited effectiveness and may lead to side effects. Although performing radiofrequency ablation (RFA) can be exceptionally challenging in patients with complex CHD, due to particular vascular access and also modified anatomy, it has paved the way to enhance comprehension of the underlying mechanisms of supraventricular arrhythmias. This, in turn, enables the provision of improved therapies and, ultimately, an enhancement in the quality of life and symptom management for these patients. The purpose of this case report is to highlight the benefits of utilizing advanced technologies such as three-dimensional electro-anatomical mapping systems, remote magnetic navigation, and highly flexible mapping and ablation catheters during RFA in a young adult with complex congenital heart disease. Although he lacked venous connections to the right atrium (RA) due to multiple corrective surgeries we, remarkably, were capable to advance a decapolar deflectable diagnostic catheter inside the Fontan tunnel and from there to record and stimulate the RA. Successful ablation of two accessory pathways was achieved with no arrhythmia recurrence during follow-up.
RESUMEN
Wolf-Parkinson-White (WPW) syndrome is a disorder characterized by the presence of at least one accessory pathway (AP) that can predispose people to atrial/ventricular tachyarrhythmias and even sudden cardiac death. It is the second most common cause of paroxysmal supraventricular tachycardia in most parts of the world, affecting about 0.1-0.3% of the general population. Most patients with WPW syndrome have normal anatomy, but it may be associated with concomitant congenital heart disease or systemic diseases. Although many individuals are asymptomatic, during supraventricular arrhythmia episodes, they may experience severe symptoms, including syncope or even sudden cardiac death (mainly due to pre-excited atrial fibrillation over rapidly conducting AP). In addition to arrhythmia-related symptoms, for some specific locations of the APs with overt anterograde conduction, there might be a reduction in exercise capacity mediated by a reduction in LV systolic performance due to anomalous LV depolarization. Although it is typically diagnosed through electrocardiography (ECG), additional tests are necessary for risk assessment. Management of WPW syndrome may be quite challenging and can vary from only acknowledging the presence of the accessory pathway to pharmacological treatment or radiofrequency ablation. Early diagnosis, risk assessment, and appropriate treatment are critical steps in the management of WPW syndrome, aiming to improve the quality of life and reduce the risk of life-threatening arrhythmias.
RESUMEN
Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic disorder, most often caused by sarcomeric gene mutations, with a small proportion due to variants in non-sarcomeric loci. Phospholamban (PLN) is a phosphoprotein associated with the cardiac sarcoplasmic reticulum, a major determinant of cardiac contractility and relaxation. We conducted a retrospective study to determine the prevalence, phenotypical spectrum and clinical course of patients carrying the PLN p.Leu39* variant. A cohort including 11 PLN patients was identified among all patients with HCM (9/189, 4.8%) and DCM (2/62, 3.2%) who underwent genetic testing from two tertiary centers and five more were detected through cascade screening. Complete phenotyping was performed. PLN p.Leu39* variant-driven cardiomyopathy presented mostly as hypertrophic, with frequent progression to end-stage dilated HCM. We proceeded to compare these results to a similar analysis of a control cohort consisting of age-matched individuals that inherited pathogenic or likely pathogenic variants in common sarcomeric genes (MYBPC3/MYH7). Overall, the clinical characteristics and examination findings of patients carrying PLN p.Leu39* were not different from patients with cardiomyopathy related to sarcomeric mutations except for the presence of pathological Q waves and the incidence of non-sustained ventricular arrhythmias, which were higher in PLN patients than in those with MYBPC3/MYH7-related diseases.
RESUMEN
(1) Background: Nanomedicine, incorporating various nanoparticles and nanomaterials, offers significant potential in medical practice. Its clinical adoption, however, faces challenges like safety concerns, regulatory hurdles, and biocompatibility issues. Despite these, recent advancements have led to the approval of many nanotechnology-based products, including those for pediatric use. (2) Methods: Our approach included reviewing clinical, preclinical, and animal studies, as well as literature reviews from the past two decades and ongoing trials. (3) Results: Nanotechnology has introduced innovative solutions in cardiovascular care, particularly in managing myocardial ischemia. Key developments include drug-eluting stents, nitric oxide-releasing coatings, and the use of magnetic nanoparticles in cardiomyocyte transplantation. These advancements are pivotal for early detection and treatment. In cardiovascular imaging, nanotechnology enables noninvasive assessments. In pediatric cardiology, it holds promise in assisting the development of biological conduits, synthetic valves, and bioartificial grafts for congenital heart defects, and offers new treatments for conditions like dilated cardiomyopathy and pulmonary hypertension. (4) Conclusions: Nanomedicine presents groundbreaking solutions for cardiovascular diseases in both adults and children. It has the potential to transform cardiac care, from enhancing myocardial ischemia treatment and imaging techniques to addressing congenital heart issues. Further research and guideline development are crucial for optimizing its clinical application and revolutionizing patient care.
RESUMEN
Statins are a class of medications primarily used in adults to lower cholesterol levels and reduce the risk of cardiovascular events. However, the use of statins in children is generally limited and carefully considered despite the well-documented anti-inflammatory, anti-angiogenic, and pro-apoptotic effects, as well as their effect on cell signaling pathways. These multifaceted effects, known as pleiotropic effects, encompass enhancements in endothelial function, a significant reduction in oxidative stress, the stabilization of atherosclerotic plaques, immunomodulation, the inhibition of vascular smooth muscle proliferation, an influence on bone metabolism, anti-inflammatory properties, antithrombotic effects, and a diminished risk of dementia. In children, recent research revealed promising perspectives on the use of statins in various conditions including neurological, cardiovascular, and oncologic diseases, as well as special situations, such as transplanted children. The long-term safety and efficacy of statins in children are still subjects of ongoing research, and healthcare providers carefully assess the individual risk factors and benefits before prescribing these medications to pediatric patients. The use of statins in children is generally less common than in adults, and it requires close monitoring and supervision by healthcare professionals. Further research is needed to fully assess the pleiotropic effects of statins in the pediatric population.
RESUMEN
Atrial septal defects (ASDs) present a significant healthcare challenge, demanding accurate and timely diagnosis and precise management to ensure optimal patient outcomes. Artificial intelligence (AI) applications in healthcare are rapidly evolving, offering promise for enhanced medical decision-making and patient care. In the context of cardiology, the integration of AI promises to provide more efficient and accurate diagnosis and personalized treatment strategies for ASD patients. In interventional cardiology, sometimes the lack of precise measurement of the cardiac rims evaluated by transthoracic echocardiography combined with the floppy aspect of the rims can mislead and result in complications. AI software can be created to generate responses for difficult tasks, like which device is the most suitable for different shapes and dimensions to prevent embolization or erosion. This paper reviews the current state of AI in healthcare and its applications in cardiology, emphasizing the specific opportunities and challenges in applying AI to ASD diagnosis and management. By exploring the capabilities and limitations of AI in ASD diagnosis and management. This paper highlights the evolution of medical practice towards a more AI-augmented future, demonstrating the capacity of AI to unlock new possibilities for healthcare professionals and patients alike.
RESUMEN
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by the progressive replacement of the normal myocardium by fibroadipocytic tissue. The importance of an early diagnosis is supported by a higher risk of sudden cardiac death in the pediatric population. We reviewed the literature on diagnosis, risk stratification, and prognosis in the pediatric population with ARVC. In case reports which analyzed children with ARVC, the most common sign was ventricular tachycardia, frequently presenting as dizziness, syncope, or even cardiac arrest. Currently, there is no gold standard for diagnosing ARVC in children. Nevertheless, genetic analysis may provide a proper diagnosis tool for asymptomatic cases. Although risk stratification is recommended in patients with ARVC, a validated prediction model for risk stratification in children is still lacking; thus, it is a matter of further research. In consequence, even though ARVC is a relatively rare condition in children, it negatively impacts the survival and clinical outcomes of the patients. Therefore, appropriate and validated diagnostic and risk stratification tools are crucial for the early detection of children with ARVC, ensuring a prompt therapeutic intervention.
RESUMEN
Sudden cardiac death (SCD) in children is a devastating event, often linked to primary electrical diseases (PED) of the heart. PEDs, often referred to as channelopathies, are a group of genetic disorders that disrupt the normal ion channel function in cardiac cells, leading to arrhythmias and sudden cardiac death. This paper investigates the unique challenges of risk assessment and stratification for channelopathy-related SCD in pediatric patients-Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, long QT syndrome, Anderson-Tawil syndrome, short QT syndrome, and early repolarization syndrome. We explore the intricate interplay of genetic, clinical, and electrophysiological factors that contribute to the complex nature of these conditions. Recognizing the significance of early identification and tailored management, this paper underscores the need for a comprehensive risk stratification approach specifically designed for pediatric populations. By integrating genetic testing, family history, and advanced electrophysiological evaluation, clinicians can enhance their ability to identify children at the highest risk for SCD, ultimately paving the way for more effective preventive strategies and improved outcomes in this vulnerable patient group.
RESUMEN
Cardiac arrhythmias are a frequent complication in the evolution of patients with congenital heart disease. Corrective surgery for these malformations is an additional predisposition to the appearance of arrhythmias. Several factors related to the patient, as well as to the therapeutic management, are involved in the etiopathogenesis of cardiac arrhythmias occurring post-operatively. The risk of arrhythmias in the immediate postoperative period is correlated with the patient's young age and low weight at surgery. The change in heart geometry, hemodynamic stress, and post-surgical scars represent the main etiopathogenic factors that can contribute to the occurrence of cardiac arrhythmias in the population of patients with operated-on congenital heart malformations. Clinical manifestations differ depending on the duration of the arrhythmia, underlying structural defects, hemodynamic conditions, and comorbidities. The accurate diagnosis and the establishment of specific management options strongly influence the morbidity and mortality associated with arrhythmias. As such, identifying the risk factors for the occurrence of cardiac arrhythmias in the case of each patient is essential to establish a specific follow-up and management plan to improve the life expectancy and quality of life of children.
RESUMEN
Idiopathic recurrent pericarditis (IRP) can be the hallmark of an autoinflammatory syndrome with recurrent attacks of chest pain and symptom-free intervals following an acute episode. The recurrence rate may be 35% in the pediatric population, frequently with less severe manifestations than at the first episode. Pericarditis can be the sole clinical manifestation or may be part of a systemic autoinflammatory disease (SAID), especially in the case of a recurrence. Familial Mediterranean Fever (FMF), Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), Mevalonate-Kinase Deficiency (MKD), nucleotide-binding oligomerization domain 2 (NOD2)-associated autoinflammatory syndrome, and others are closely related to IRP based on similar clinical manifestations and treatment responses to anti-interleukin 1 (IL-1) agents, such as anakinra, and should therefore be excluded in patients with IRP. A newly described SAID, an autosomal dominant disorder known as NLRP12-AID (nucleotide-binding leucine-rich repeat-containing receptor 12-related autoinflammatory disease) is caused by heterozygous mutations in the NLRP12 gene and most commonly affects children. Fewer than 40 pediatric patients with NLRP12-AID have been described in the medical literature, with none presenting with RP. We report a case of relapsing pericarditis responsive to anti-IL-1 therapy in a male adolescent who carried a missense mutation in the NLRP12 gene potentially causative of the excessive activation of inflammatory pathways. This is a unique case in the medical literature that associates recurrent pericarditis in an adolescent presumed to be related to the missense mutation in the NLRP12 gene. The role of the NLRP12 inflammasome in generating and maintaining recurrent pericardial inflammation should be considered.
RESUMEN
Cardiac implantable electronic devices are now widely used worldwide and the numbers are increasing exponentially. Subsequently, long-term complications have increased. Transvenous lead-extraction (TLE) is the gold standard for removing infected devices, treating systemic device-related infections including endocarditis, and removing devices for other non-infectious complications. Most patients still require device therapy after TLE for several indications, including lifesaving defibrillation or pacing in pacemaker-dependent patients. The decision to reimplant is challenging, particularly when the primary cause for device removal includes device-related infections and patients frequently are pacemaker dependent. We aim to present our strategy for reimplanting after performing TLE in 88 consecutive patients. We performed transvenous removal of 150 pacemaker and defibrillator leads, of which 74% for local or systemic infection. We report a 99.3% clinical success after TLE. Out of 88 patients who had undergone TLE and after reanalysing the device indication, 67 patients (76%) still had indication for device removal, but three of them refused to undergo reimplant and 58 were re-implanted. Of the re-implanted patients, 58.6% were implanted on the contra-lateral side, 38% on the ipsilateral side and two patients who had been previously implanted with ICD were reimplanted with a subcutaneous implantable cardioverter defibrillator (S-ICD). Up to 34.4% of patients were re-implanted during the same TLE procedure, which was performed for device up-grade in patients with venous occlusion, 24% were implanted during the same hospital admission for TLE but not during TLE, and 41.3% were discharged and reimplanted afterwards. With this strategy for reimplantation, we report no re-infections and no device-removal-related arrhythmic major events or deaths during one-year follow-up. In conclusion, most patients still require device therapy after TLE. In patients with previous infection of the device, the reimplantation strategy should be carefully analyzed to prevent infection relapse and limit the consequences of the absence of the device.
RESUMEN
Infective endocarditis (IE) is a disease of the endocardium, which leads to the appearance of vegetation on the valves, cardiac structures, or, potentially, vascular endothelium of the heart. The risk of IE can be increased more than 140 times by congenital heart disease (50-59% of all IE), particularly if cyanotic. An increase in mortality may result from IE in patients with a complex cardiac pathology or patients with an implanted prosthetic material, most frequently conduits in a pulmonary position. Cardiac implantable electronic devices (CIED) infective endocarditis is a life-threatening complication representing 10% of all cases of endocarditis. Common signs of presentation are often fever and chills; redness and swelling at the pocket of the pacemaker, including the erosion and exteriorization of the device; and life-threatening sepsis. The use of intracardiac echocardiography for the diagnosis of IE is an innovative method. This may be needed, especially in older children undergoing complex cardiac surgery, when transthoracic echocardiography (TTE) and transesophageal echocardiography (TOE) failed to provide a reliable diagnosis. The 2018 European Heart Rhythm Association (EHRA) experts' consensus statement on transvenous lead extraction recommends complete device removal and antimicrobial therapy for any device-related infection, including CIED-IE. The most detected microorganism was Staphylococcus Aureus. In addition, cardiac surgery and interventional cardiology associated with the placement of prostheses or conduits may increase the risk of IE up to 1.6% for Melody valve implantation. Our manuscript presents a comprehensive review of infective endocarditis associated with cardiac devices and prostheses in the pediatric population, including recent advances in diagnosis and management.
RESUMEN
BACKGROUND: Acute kidney injury occurs commonly in the Neonatal Intensive Care Unit and is associated with increased mortality and morbidity. We report a case of a neonate with congenital heart disease who developed acute kidney injury after cardiac surgery, administration of iodinated contrast media for cardiac catheterization, and a combination of nephrotoxic drugs. CASE REPORT: A term neonate without a prenatal diagnosis of congenital heart disease and with a good postnatal transition was transferred at 13 days of life to the MS Curie Emergency Hospital for Children, Newborn Intensive Care Unit, from a regional hospital where he was admitted at 10 days of life with severe general status, respiratory distress, cyanosis, and arterial hypotension. The cardiac ultrasound detected critical aortic valve stenosis, hypoplastic descending aorta, acute heart failure, and pulmonary hypertension. The patient was intubated and mechanically ventilated and received antibiotherapy (meropenem, vancomycin, and colistin), inotropic and vasoactive support (epinephrine, norepinephrine, dopamine, and milrinone), and diuretic support (furosemide, aminophylline, and ethacrynic acid). A balloon aortic valvuloplasty was performed several hours after admission, but after two days the patient required reintervention by open heart surgery due to relapsing severe aortic stenosis. He developed oligo-anuria, generalized edema, and altered renal function tests on the second postoperative and fourth day post-contrast media administration. Continuous renal replacement therapy was initiated for 75 h, leading to almost instant improvement in blood pressure, then diuresis and creatinine levels. The patient required long-term treatment for heart, respiratory, and liver failure. He was discharged at almost four months of age with normal renal function tests, blood pressure, and good urine output without diuretic support. The literature review indicates that contrast-associated acute kidney injury (CA-AKI) requiring continuous renal replacement therapy is rare. CONCLUSIONS: Our current case proves that iodinated contrast media administration in a neonate with concomitant insults, such as cardiac surgery for a specific pathology, aortic stenosis, coarctation, arch stenosis, arterial hypotension, and administration of nephrotoxic drugs, may lead to severe kidney injury.
RESUMEN
Atrial septal defect (ASD) represents the most common congenital heart defect identified in adulthood. Atrial and ventricular geometric remodeling due to intracardiac shunt increase the risk of arrhythmias, especially atrial fibrillation (AF). Clinical, echocardiography, electrocardiogram, and device-related predictors may be used to assess the risk of atrial arrhythmias after ASD closure. The underlying mechanisms in these patients are complex and at least in part independent of the structural remodeling secondary to hemodynamic overload. Device closure of the ASD itself and its timing impact future arrhythmia risk, as well as posing a challenge for when transseptal puncture is required. Sudden cardiac death (SCD) risk is higher than in the general population and an implantable cardioverter-defibrillator (ICD) may be indicated in selected cases.
RESUMEN
The Pediatric Quality of Life (PedsQL) Inventory is a tool used to measure Health Related Quality of Life (HRQoL) in children aged 2 to 18 years. The aim of the present study was to investigate the feasibility and reliability of the Romanian version of two PedsQL modules, the Generic Core and the Multidimensional Fatigue Scales, in children with inflammatory bowel disease (IBD). Children diagnosed with IBD in our clinic and their parents completed a total of 26 Romanian version PedsQL forms, while a control group of healthy children and their caregiver filled in 86 identical online forms. We compared total and dimensional scores between controls and subjects, along with age, sex, and active versus inactive disease differences. The results indicated that the PedsQL total and summary scores differentiated between subjects and controls, with lower HRQoL and higher levels of fatigue being reported in children with chronic IBD. The Romanian version of the PedsQL was found to be feasible and reliable, with good internal consistency higher than 0.70 and minimum missing responses. However, the limited number of participants meant that clinical activity severity indices correlated poorly with fatigue and generic scores. Further validation of these models requires larger, multi-centric studies.
RESUMEN
Ventricular assist devices (VAD) have gained popularity in the pediatric population during recent years, as more and more children require a heart transplant due to improved palliation methods, allowing congenital heart defect patients and children with cardiomyopathies to live longer. Eventually, these children may require heart transplantation, and ventricular assist devices provide a bridge to transplantation in these cases. The FDA has so far approved two types of device: pulsatile and continuous flow (non-pulsatile), which can be axial and centrifugal. Potential eligible studies were searched in three databases: Medline, Embase, and ScienceDirect. Our endeavor retrieved 16 eligible studies focusing on five ventricular assist devices in children. We critically reviewed ventricular assist devices approved for pediatric use in terms of implant indication, main adverse effects, and outcomes. The main adverse effects associated with these devices have been noted to be thromboembolism, infection, bleeding, and hemolysis. However, utilizing left VAD early on, before end-organ dysfunction and deterioration of heart function, may give the patient enough time to recuperate before considering a more long-term solution for ventricular support.
RESUMEN
Anomalous origin of the right coronary artery (RCA) from the pulmonary artery, ARCAPA, is an extremely rare congenital heart disease. Only 200 cases were reported from 1885 to the present. Patients diagnosed with ARCAPA can be either asymptomatic or can experience symptoms, such as heart murmur, dyspnea, or angina, shortly after birth or around 40-60 years of life. Usually, those with isolated ARCAPA are diagnosed later in life compared to those who associate other structural cardiac defects. We report two cases of anomalous origin of the right coronary artery at the level of the pulmonary artery trunk (ARCAPA) that were diagnosed by invasive coronary angiography. Although asymptomatic, general recommendations suggest an early corrective intervention to prevent complications such as myocardial ischemia and cardiac dysfunction, which can lead to sudden cardiac death.
RESUMEN
Isolated right ventricle hypoplasia (IRVH) is a disease characterized by an underdeveloped right ventricle. It is a congenital heart disease than can associate heterogeneous structural defects and nonspecific clinical features, which can often present a challenging therapeutic management. In this article, there are presented diagnostic methods and treatment options for right ventricle hypoplasia (RVH) according to clinical features, patients age and associated structural heart defects. RVH has a different prognosis in accordance with the severity of the heart defects and the patient's age at which the diagnosis is established. Thus, isolated forms of RVH generally present mild structural and functional defects that can be associated with the onset of symptoms in adolescence or even in adulthood. In these cases, atrial septal defect closure with or without superior cavo-pulmonary anastomosis can be the only procedures needed to correct the hemodynamic abnormalities and relief the symptomatology. Patients with severe form of RVH associated with complex cardiac malformations and onset of the symptoms in the neonatal period require prompt intervention and necessitate palliative procedures. In the long term, these patients could need multiple reinterventions. The family physician should be aware of the cardiac origin of isolated symptoms or clinical signs, such as exertional dyspnea or clubbing fingers, and send the patient for pediatric cardiological evaluation.
Asunto(s)
Cardiopatías Congénitas , Defectos del Tabique Interatrial , Adolescente , Adulto , Anastomosis Quirúrgica/métodos , Niño , Cardiopatías Congénitas/diagnóstico , Defectos del Tabique Interatrial/cirugía , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/cirugía , Humanos , Recién NacidoRESUMEN
Duct-dependent congenital heart disease requires attentive therapeutic management since the only source of pulmonary blood flow in newborns is provided by the patent ductus arteriosus. The patency of the duct is the main objective in the first hours of life and it is guaranteed by prostaglandin E1 infusion, but it is not a long-term solution for this type of cardiac malformation. In order to augment pulmonary blood, there are two types of interventions that can be performed: a classical surgical shunt or stenting of the ductus arteriosus, a fairly new alternative to cardiac palliative surgery. Case selection for this type of procedure is essential regarding the patients' outcome. We present the management of a newborn diagnosed with (pseudo)atretic pulmonary valve, large ventricular septal defect and patent ductus arteriosus, who underwent an interventional procedure to secure pulmonary blood flow by placing a drug-eluting stent in the ductus arteriosus. The patient's evolution was not uneventful, several complications appeared, but after three months of neonatal intensive care we were able to discharge him in good clinical condition.
RESUMEN
Acute myocardial infarction (AMI) in children is rather anecdotic. However, following COVID-19, some conditions may develop which may favor thrombosis, myocardial infarction, and death. Such a condition is Kawasaki-like disease (K-lD). K-lD appears in children as a subgroup of the multisystem inflammatory syndrome (MIS-C). In some cases, K-lD patients may develop giant coronary aneurysms. The evolution and characteristics of coronary aneurysms from K-lD appear to be different from classical Kawasaki disease (KD) aneurysms. Differences include a lower percentage of aneurysm formation than in non-COVID-19 KD, a smaller number of giant forms, a tendency towards aneurysm regression, and fewer thrombotic events associated with AMI. We present here a review of the literature on the thrombotic risks of post-COVID-19 coronary aneurysms, starting from a unique clinical case of a 2-year-old boy who developed multiple coronary aneurysms, followed by AMI. In dehydration conditions, 6 months after COVID-19, the boy developed anterior descending artery occlusion and a slow favorable outcome of the AMI after thrombolysis. This review establishes severity criteria and risk factors that predispose to thrombosis and AMI in post-COVID-19 patients. These may include dehydration, thrombophilia, congenital malformations, chronic inflammatory conditions, chronic kidney impairment, acute cardiac failure, and others. All these possible complications should be monitored during acute illness. Ischemic heart disease prevalence in children may increase in the post-COVID-19 era, due to an association between coronary aneurysm formation, thrombophilia, and other risk factors whose presence will make a difference in long-term prognosis.