RESUMO
BACKGROUND: Young people with congenital heart disease (CHD) are frequently affected by discontinued follow-up when transferring from paediatric to adult care. Identified predictors for discontinuation include mostly patient-related factors, and further knowledge of hospital and healthcare system factors is needed. AIM: This study aims to explore patient-related, hospital-related and healthcare system-related factors affecting continued follow-up care after transfer, as perceived and experienced by paediatric cardiology and adult CHD (ACHD) healthcare providers (HCPs) in Sweden and Belgium. METHODS: This descriptive qualitative study included individual interviews with cardiologists, nurses and administrative staff, subjected to qualitative content analysis. A total of 30 HCPs from 13 specialist care outpatient clinics at 8 different centres in Sweden and Belgium were interviewed. HCPs were included if they had direct contact with patients and had at least 1 year of work experience. FINDINGS: The findings illuminate three main categories of factors perceived by HCPs to affect continued follow-up care after transfer, including 'care structure', 'care processes' and 'patient characteristics and circumstances'. Success was described as multifactorial, emphasising processes and structures of care, with a focus on collaboration, organisation, joint responsibility, resources, care relationships and transitional care interventions. Few differences appeared between paediatric and ACHD HCPs and between Swedish and Belgian HCPs. CONCLUSION: HCPs perceived factors on patient, hospital and healthcare system levels to influence continued follow-up. Process-related and structure-related aspects of care were perceived as more influential than individual patient characteristics. Hence, future research on discontinued follow-up care should focus on process-related and structure-related aspects of care delivery.
Assuntos
Pessoal de Saúde , Cardiopatias Congênitas , Pesquisa Qualitativa , Humanos , Bélgica , Suécia , Masculino , Feminino , Pessoal de Saúde/psicologia , Adulto , Cardiopatias Congênitas/terapia , Atitude do Pessoal de Saúde , Assistência ao Convalescente , Transição para Assistência do Adulto/organização & administração , Pessoa de Meia-Idade , Entrevistas como AssuntoRESUMO
Despite significant strides made in childhood survival during the last 75 years, India bears the largest burden of congenital heart disease (CHD) in the world. The care of a child with CHD requires multidisciplinary collaboration and development of distinct training opportunities in developing countries to ensure outcomes similar to those achieved in high-income countries. We present a commentary on the current state of pediatric cardiac critical care in India and propose pathways to fulfil the unmet needs of Indian children. The aim is to achieve self-reliance in pediatric cardiac services and to move towards optimal outcome and intact survival of children with CHD.
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Cuidados Críticos , Cardiopatias Congênitas , Humanos , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/mortalidade , Índia/epidemiologia , Criança , Pediatria/organização & administração , Pediatria/métodos , Pré-EscolarRESUMO
Techniques of venoarterial-extracorporeal membrane oxygenation (VA-ECMO) have improved over the decades, with numerous applications.1 Those with reversible low cardiac output benefit most from this support.1 Case of 21-year-old male, history of congenital heart disease (severe right ventricle hypoplasia and pulmonary artery stenosis with extracardiac cavo-pulmonary shunt (Fontan surgery), and atrial septal defect). Brought to the Emergency Department due to a Mallory-Weiss syndrome, upper-endoscopy "laceration at esophagogastric junction (EGJ) with active bleeding", clips were applied. However, worsening shock, repeated melenas and hematemesis, hemoglobin drop, lactate 2.8mmol/L, and needing noradrenaline (1.21mcg/kg/min). Due to active blood loss and worsening shock, the patient was intubated to maintain airway protection. Repeated upper-endoscopy "voluminous live red clot at EGJ, 4-clips and active bleeding of mucosa between, injection of polidocanol". Despite the implemented strategy, high risk of rebleeding remained. Following invasive mechanical ventilation (IMV), sustained hypotension having to increase noradrenaline (1.52mcg/kg/min) and lactate (5.8mmol/l), despite fluid resuscitation. Echocardiogram evidenced severe ventricular dysfunction, and fixed inferior vena cava (IVC) of 20mm. The heart defect combined with positive intrathoracic pressure, contributed to the worsened shock, as Fontan circulation is dependent on low vascular resistance to maintain output2. Needing VA-ECMO and admitted to ICU, volemia optimization, adjusting ventilation to lower intrathoracic pressure and started on milrinone and sildenafil. Another upper-endoscopy showed laceration at EGJ, with placement of clips. Echocardiogram revealed "Normal left ventricle. Hypoplastic right ventricle. Mild mitral regurgitation; aortic VTi 19cm. IVC 22mm. RV/RA gradient 70mmHg. Interatrial bidirectional shunt". Favorable evolution permitted extubation, suspension of milrinone and sildenafil, followed by decannulation. With rescue ECMO, congenital heart disease are salvageable despite sudden decompensation3. This case, positive intrathoracic pressure impairs the Fontan circulation, dependent on preload and higher central venous pressure to maintain cardiac output, as the ventricle is unable to compensate increased demands2, and worsening shock.
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Cardiopatias Congênitas , Humanos , Masculino , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/complicações , Adulto Jovem , Respiração Artificial , Choque/terapia , Choque/etiologia , Oxigenação por Membrana Extracorpórea/métodosRESUMO
Congenital heart disease (CHD) is the most common birth defect, requiring invasive surgery often before a child's first birthday. Current materials used during CHD surgery lack the ability to grow, remodel, and regenerate. To solve those limitations, 3D bioprinting is an emerging tool with the capability to create tailored constructs based on patients' own imaging data with the ability to grow and remodel once implanted in children with CHD. It has the potential to integrate multiple bioinks with several cell types and biomolecules within 3D-bioprinted constructs that exhibit good structural fidelity, stability, and mechanical integrity. This review gives an overview of CHD and recent advancements in 3D bioprinting technologies with potential use in the treatment of CHD. Moreover, the selection of appropriate biomaterials based on their chemical, physical, and biological properties that are further manipulated to suit their application are also discussed. An introduction to bioink formulations composed of various biomaterials with emphasis on multiple cell types and biomolecules is briefly overviewed. Vasculogenesis and angiogenesis of prefabricated 3D-bioprinted structures and novel 4D printing technology are also summarized. Finally, we discuss several restrictions and our perspective on future directions in 3D bioprinting technologies in the treatment of CHD.
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Materiais Biocompatíveis , Bioimpressão , Cardiopatias Congênitas , Hidrogéis , Impressão Tridimensional , Engenharia Tecidual , Humanos , Cardiopatias Congênitas/terapia , Bioimpressão/métodos , Hidrogéis/química , Engenharia Tecidual/métodos , Materiais Biocompatíveis/química , Materiais Biocompatíveis/uso terapêutico , Alicerces Teciduais/química , AnimaisRESUMO
Importance: Family-centered care recognizes families as central to child health and well-being and prioritizes clinician collaboration with families to ensure optimal pediatric care and outcomes. Clinician interpersonal sensitivity and communication skills are key to this approach. Objective: To examine perceptions of and factors associated with family-centered care among clinicians working in pediatric and congenital heart care. Design, Setting, and Participants: In this cross-sectional study, participants from diverse clinical disciplines (pediatric cardiology, cardiothoracic surgery, nursing, anesthesia, neonatology, intensive care, psychology, and others), completed an online survey between June 2020 and February 2021. Participants included physicians, surgeons, nurses, and allied and mental health professionals at an Australian quaternary pediatric hospital network. Statistical analysis was performed from August 2022 to June 2023. Main Outcomes and Measures: Family-centered care across 4 domains (showing interpersonal sensitivity, treating people respectfully, providing general information, and communicating specific information) was measured using the validated Measure of Processes of Care for Service Providers. Clinician burnout (emotional exhaustion, depersonalization, and personal accomplishment), confidence responding to families' psychosocial needs, and psychological, clinical role, and sociodemographic factors were also assessed. Informed by theory, hierarchical linear regression was used to identify factors associated with family-centered care. Results: There were 212 clinicians (177 women [84.3%]; 153 nurses [72.2%], 32 physicians [15.1%], 22 allied and mental health professionals [10.4%], 5 surgeons [2.3%]; 170 [80.2%] aged 20-49 years) who participated (55% response rate). Of the 4 family-centered care domains, scores for treating people respectfully were highest and associated with greater clinician confidence responding to families' psychosocial needs (effect size [ß], 0.59 [95% CI, 0.46 to 0.72]; P < .001), lower depersonalization (ß, 0.04 [95% CI, -0.07 to -0.01]; P = .02), and a greater sense of personal accomplishment at work (ß, 0.02 [95% CI, 0.01 to 0.04]; P = 0.04). Greater interpersonal sensitivity was associated with greater confidence responding to families' psychosocial needs (ß, 0.80 [95% CI, 0.62 to 0.97]; P < .001), a greater sense of personal accomplishment at work (ß, 0.03 [95% CI, 0.01 to 0.05]; P = .04), and lower use of approach-based coping, such as problem-solving (ß, 0.37 [95% CI, -0.71 to -0.02]; P = .04). Conclusions and Relevance: In this cross-sectional study, burnout and confidence responding to families' psychosocial needs were associated with clinicians' perceptions of family-centered care. These findings suggest that targeted interventions to address these factors may benefit clinicians and also potentially strengthen the practice of family-centered care in pediatric and congenital heart settings.
Assuntos
Atitude do Pessoal de Saúde , Cardiopatias Congênitas , Relações Profissional-Família , Humanos , Estudos Transversais , Feminino , Masculino , Cardiopatias Congênitas/psicologia , Cardiopatias Congênitas/terapia , Adulto , Assistência Centrada no Paciente , Austrália , Pessoa de Meia-Idade , Inquéritos e Questionários , Criança , Esgotamento Profissional/psicologiaRESUMO
OBJECTIVES: As part of a wider study, our aim was to elicit perspectives of people with congenital heart disease (CHD) and/or their parents/carers about their experiences of healthcare and what is important to them when receiving care. DESIGN AND SETTING: A qualitative study involving a series of closed, asynchronous, online discussion forums underpinned by an interpretivist framework and set up and moderated by three patient charities via their Facebook pages. PARTICIPANTS: People with CHD and parents/carers of people with CHD from the UK. RESULTS: Five forums were run for 12-24 weeks across the three charities, and 343 participants signed up to the forums. Four linked themes related to processes of care were identified following thematic analysis of the transcripts: relationships and communication; access and coordination; experience of discrete episodes of care and psychological support. These impacted how care was experienced and, for some patients, outcomes of CHD and its treatment as well as broader health outcomes. In addition, context relating to stages of the patient journey was described, together with patient-related factors such as patients' knowledge and expertise in their own condition. CONCLUSIONS: People with CHD and their parents/carers want individualised, person-centred care delivered within an appropriately resourced, multidisciplinary service. Although examples of excellent care were provided it is evident that, from the perspective of patients and parents/carers, some National Health Service Standards for people with CHD were not being met.
Assuntos
Cardiopatias Congênitas , Pais , Pesquisa Qualitativa , Humanos , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/psicologia , Feminino , Masculino , Reino Unido , Pais/psicologia , Adulto , Cuidadores/psicologia , Comunicação , Pessoa de Meia-Idade , Assistência Centrada no Paciente , Adolescente , Adulto JovemRESUMO
Objective: To summarize the characteristics of pregnant women with critical congenital heart disease, and to explore continuous, integrated, multidisciplinary management for this segment of population. Methods: The clinical records of pregnant women with severe congenital heart disease with a history of intensive care who were treated in Guangdong Provincial People's Hospital from January 1, 2008 to December 31, 2020 were retrospectively analyzed. Results: (1) A total of 132 cases were included, including 128 pregnant women [gestational age (28.0±8.8) weeks] and 4 puerpera cases (6-32 days postpartum), 63.6% (84/132) from economic underdeveloped rural areas, and 78.0% (103/132) by the municipal hospital, irregular prenatal examination accounted for 59.1% (78/132). The main type of congenital heart disease was shunt lesion (55.3%, 73/132). 90.9% (120/132) with mWHO risk classification stage â £ were assigned to it. The main cardiovascular complication was pulmonary hypertension (64.4%, 85/132). 46.2% (61/132) of the patients had been diagnosed with congenital heart disease before pregnancy, and 70.5% (93/132) of the patients had not received any treatment before pregnancy. (2) All patients received obstetric-led, multidisciplinary care. The rescue success rate was 96.2% (127/132), and no serious obstetric complications occurred. The mortality within 24 hours after discharge was 3.8% (5/132). 16.7% (22/132) underwent cardiac surgery during pregnancy, of which 77.3% (17/22) continued their pregnancy beyond 34 weeks. Totally, the delivery week was (30.5±8.6) weeks, and the main mode was cesarean section (71.2%, 94/132). The average weight of 99 live births (including 1 twin pregnancy) was (2 167±698) g. Preterm birth, fetal growth restriction, and congenital malformations were the main fetal comorbidities. Conclusions: Pregnant women with severe congenital heart disease mainly come from areas with underdeveloped economic and medical levels. Later disease intervention, pregnancy retention despite of clear pregnancy contraindications are the distinctive features, which leaded to a significant increase of incidence of maternal and fetal complications, and an increase of the consumption of medical resources. Multidisciplinary active treatment and cardiac surgery during pregnancy could relatively improve maternal and fetal pregnancy outcomes.
Assuntos
Cardiopatias Congênitas , Resultado da Gravidez , Humanos , Feminino , Gravidez , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/complicações , Estudos Retrospectivos , China/epidemiologia , Adulto , Recém-Nascido , Idade Gestacional , Complicações Cardiovasculares na Gravidez/terapia , Complicações Cardiovasculares na Gravidez/epidemiologia , Cesárea/estatística & dados numéricos , Hipertensão Pulmonar/terapia , Hipertensão Pulmonar/epidemiologiaRESUMO
Congenital heart disease (CHD) is a leading cause of birth defect-related death. Despite significant advances, the mechanisms underlying the development of CHD are complex and remain elusive due to a lack of efficient, reproducible, and translational model systems. Investigations relied on animal models have inherent limitations due to interspecies differences. Human induced pluripotent stem cells (iPSCs) have emerged as an effective platform for disease modeling. iPSCs allow for the production of a limitless supply of patient-specific somatic cells that enable advancement in cardiovascular precision medicine. Over the past decade, researchers have developed protocols to differentiate iPSCs to multiple cardiovascular lineages, as well as to enhance the maturity and functionality of these cells. With the development of physiologic three-dimensional cardiac organoids, iPSCs represent a powerful platform to mechanistically dissect CHD and serve as a foundation for future translational research.
Assuntos
Diferenciação Celular , Cardiopatias Congênitas , Células-Tronco Pluripotentes Induzidas , Organoides , Animais , Humanos , Cardiopatias Congênitas/patologia , Cardiopatias Congênitas/terapia , Células-Tronco Pluripotentes Induzidas/citologia , Miócitos Cardíacos/citologia , Miócitos Cardíacos/metabolismo , Organoides/citologia , Organoides/metabolismoRESUMO
While significant progress has been made in reducing disparities within the US health care system, notable gaps remain. This article explores existing disparities within pediatric congenital heart disease care. Congenital heart disease, the most common birth defect and a leading cause of infant death, has garnered substantial attention, revealing certain disparities within the US health care system. Factors such as race, ethnicity, insurance coverage, socioeconomic status, and geographic location are all commonalities that significantly affect health disparities in pediatric congenital heart disease. This comprehensive review sheds light on disparities from diverse perspectives in pediatric care, demonstrates the inequities and inequalities leading to these disparities, presents effective solutions, and issues a call to action for providers, institutions, and the health care system. Recognizing and addressing these disparities is imperative for ensuring equitable care and enhancing the long-term well-being of children affected by congenital heart disease. Implementing robust, evidence-based frameworks that promote responsible and safe interventions is fundamental to enduring change.
Assuntos
Disparidades em Assistência à Saúde , Cardiopatias Congênitas , Humanos , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/epidemiologia , Disparidades em Assistência à Saúde/etnologia , Criança , Acessibilidade aos Serviços de Saúde/organização & administração , Estados Unidos/epidemiologia , Lactente , Recém-Nascido , Fatores Socioeconômicos , Pré-EscolarRESUMO
PURPOSE: Currently, nearly 90% of patients with congenital heart disease (CHD) reach adulthood in relatively good health. Structured transition programs have emerged to support adolescents and young adults in transitioning to adult care structures, improve their autonomy, and limit healthcare ruptures. The TRANSITION-CHD randomized controlled trial aimed to assess the impact of a transition program on health-related quality of life (HRQoL) in adolescents and young adults with CHD. METHODS: From January 2017 to February 2020, 200 subjects with a CHD, aged 13-25 years, were enrolled in a prospective, controlled, multicenter study and randomized in two balanced groups (transition program vs. standard of care). The primary outcome was the change in PedsQL self-reported HRQoL score between baseline and 12-month follow-up, using an intention-to-treat analysis. The secondary outcomes were the change in disease knowledge, physical health (cardiopulmonary fitness, physical activity), and mental health (anxiety, depression). RESULTS: The change in HRQoL differed significantly between the transition group and the control group (mean difference = 3.03, 95% confidence interval (CI) = [0.08; 5.98]; p = .044; effect size = 0.30), in favor of the intervention group. A significant increase was also observed in the self-reported psychosocial HRQoL (mean difference = 3.33, 95% CI = [0.01; 6.64]; p = .049; effect size = 0.29), in the proxy-reported physical HRQoL (mean difference = 9.18, 95% CI = [1.86; 16.51]; p = .015; effect size = 0.53), and in disease knowledge (mean difference = 3.13, 95% CI = [1.54; 4.72]; p < .001; effect size = 0.64). DISCUSSION: The TRANSITION-CHD program improved HRQoL and disease knowledge in adolescents and young adults with CHD, supporting the generalization and systematization of similar preventive interventions in pediatric and congenital cardiology.
Assuntos
Cardiopatias Congênitas , Qualidade de Vida , Transição para Assistência do Adulto , Humanos , Cardiopatias Congênitas/psicologia , Cardiopatias Congênitas/terapia , Adolescente , Feminino , Masculino , Adulto Jovem , Estudos Prospectivos , AdultoRESUMO
Congenital heart disease affects 1/100 live births and is one of the most common congenital abnormalities. The relationship between congenital heart disease and lymphatic abnormalities and/or dysfunction is well documented and can be grossly divided into syndromic and non-syndromic etiologies. In patients with genetic syndromes (as examples listed above), there are known primary abnormal lymphatic development leading to a large pleiotropic manifestation of lymphatic dysfunction. Non-syndromic patients, or those without clear genetic etiologies for their lymphatic dysfunction, are often thought to be secondary to physiologic abnormalities as sequelae of congenital heart disease and palliative surgeries. Patients with congenital heart disease and lymphatic dysfunction have a wide variety of clinical manifestations for which there were not many therapeutic interventions available. The development of new imaging techniques allows us to understand better the pathophysiology of these problems and to develop different percutaneous interventions aiming to restore normal lymphatic function.
Assuntos
Cardiopatias Congênitas , Humanos , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/cirurgia , Anormalidades Linfáticas/terapia , Anormalidades Linfáticas/diagnóstico , Doenças Linfáticas/terapia , Doenças Linfáticas/diagnósticoRESUMO
The following semilunar valve defects and aortic arch anomalies are called simple defects because there is a single problem that can be well described. Based on the degree of malformation and hemodynamic consequence, these simple lesions can however be life threatening immediately after birth. They all affect either the left or right outflow tract or the aortic arch.
Assuntos
Aorta Torácica , Humanos , Aorta Torácica/anormalidades , Aorta Torácica/fisiopatologia , Aorta Torácica/diagnóstico por imagem , Valva Aórtica/anormalidades , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/fisiopatologiaRESUMO
Anomalous mitral arcade (MA) is a rare congenital anomaly. We report a case of MA in a newborn who presented with hydrops fetalis due to severe mitral regurgitation. After birth, he developed severe respiratory failure, congestive heart failure and airway obstruction because an enlarged left atrium from severe mitral regurgitation compressed the distal left main bronchus. There is limited experience in surgical management of this condition in Thailand, and the patient's mitral valve was too small for replacement. Therefore, he was treated with medication to control heart failure and supported with positive pressure ventilation to promote growth. We have followed the patient until the current time of writing this report at the age of 2 years, and his outcome is favourable regarding heart failure symptoms, airway obstruction, growth and development. This case describes a challenging experience in the non-surgical management of MA with severe regurgitation, which presented at birth.
Assuntos
Hidropisia Fetal , Insuficiência da Valva Mitral , Valva Mitral , Humanos , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/cirurgia , Hidropisia Fetal/terapia , Hidropisia Fetal/diagnóstico por imagem , Masculino , Recém-Nascido , Valva Mitral/anormalidades , Valva Mitral/diagnóstico por imagem , Valva Mitral/cirurgia , Ecocardiografia , Insuficiência Cardíaca/etiologia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/terapia , Respiração com Pressão Positiva/métodosRESUMO
Cardiovascular magnetic resonance (CMR) and computed tomography (CCT) are advanced imaging modalities that recently revolutionized the conventional diagnostic approach to congenital heart diseases (CHD), supporting echocardiography and often replacing cardiac catheterization. This is the second of two complementary documents, endorsed by experts from the Working Group of the Italian Society of Pediatric Cardiology and the Italian College of Cardiac Radiology of the Italian Society of Medical and Interventional Radiology, aimed at giving updated indications on the appropriate use of CMR and CCT in different clinical CHD settings, in both pediatrics and adults. In this article, support is also given to radiologists, pediatricians, cardiologists, and cardiac surgeons for indications and appropriateness criteria for CMR and CCT in the most referred CHD, following the proposed new criteria presented and discussed in the first document. This second document also examines the impact of devices and prostheses for CMR and CCT in CHD and additionally presents some indications for CMR and CCT exams when sedation or narcosis is needed.
Assuntos
Consenso , Cardiopatias Congênitas , Humanos , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/terapia , Itália , Tomografia Computadorizada por Raios X/normas , Cardiologia/normas , Imageamento por Ressonância Magnética/normas , Criança , Valor Preditivo dos Testes , Adulto , Sociedades Médicas/normasRESUMO
Advancements in prenatal detection have improved postnatal outcomes for patients with congenital heart disease (CHD). Detailed diagnosis during pregnancy allows for preparation for the delivery and immediate postnatal care for the newborns with CHD. Most CHDs do not result in hemodynamic instability at the time of birth and can be stabilized following the guidelines of the neonatal resuscitation program (NRP). Critical CHD that requires intervention immediately after birth is recommended to be delivered in facilities where immediate neonatal and cardiology care can be provided. Postnatal stabilization and resuscitation for these defects warrant deviation from the standardized NRP. For neonatal providers, knowing the diagnosis of fetal CHD allows for preparation for the anticipated instability in the delivery room. Prenatal detection fosters collaboration between fetal cardiology, cardiology specialists, obstetrics, and neonatology, improving outcomes for neonates with critical CHD.
Assuntos
Salas de Parto , Cardiopatias Congênitas , Humanos , Recém-Nascido , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/diagnóstico , Feminino , Gravidez , Cuidado Pós-Natal/métodos , Cuidado Pós-Natal/normasRESUMO
Congenital heart disease (CHD) affects approximately 1 % of live births worldwide, making it the most common congenital anomaly in newborns. Recent advancements in genetics and genomics have significantly deepened our understanding of the genetics of CHDs. While the majority of CHD etiology remains unclear, evidence consistently indicates that genetics play a significant role in its development. CHD etiology holds promise for enhancing diagnosis and developing novel therapies to improve patient outcomes. In this review, we explore the contributions of both monogenic and polygenic factors of CHDs and highlight the transformative impact of emerging technologies on these fields. We also summarized the state-of-the-art techniques, including targeted next-generation sequencing (NGS), whole genome and whole exome sequencing (WGS, WES), single-cell RNA sequencing (scRNA-seq), human induced pluripotent stem cells (hiPSCs) and others, that have revolutionized our understanding of cardiovascular disease genetics both from diagnosis perspective and from disease mechanism perspective in children and young adults. These molecular diagnostic techniques have identified new genes and chromosomal regions involved in syndromic and non-syndromic CHD, enabling a more defined explanation of the underlying pathogenetic mechanisms. As our knowledge and technologies continue to evolve, they promise to enhance clinical outcomes and reduce the CHD burden worldwide.
Assuntos
Cardiopatias Congênitas , Humanos , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Testes Genéticos/métodos , Genômica/métodos , Células-Tronco Pluripotentes Induzidas , Terapia Genética/métodos , Predisposição Genética para DoençaRESUMO
With continued medical and surgical advancements, most children and adolescents with congenital heart disease are expected to survive to adulthood. Chronic heart failure is increasingly being recognized as a major contributor to ongoing morbidity and mortality in this population as it ages, and treatment strategies to prevent and treat heart failure in the pediatric population are needed. In addition to primary myocardial dysfunction, anatomical and pathophysiological abnormalities specific to various congenital heart disease lesions contribute to the development of heart failure and affect potential strategies commonly used to treat adult patients with heart failure. This scientific statement highlights the significant knowledge gaps in understanding the epidemiology, pathophysiology, staging, and outcomes of chronic heart failure in children and adolescents with congenital heart disease not amenable to catheter-based or surgical interventions. Efforts to harmonize the definitions, staging, follow-up, and approach to heart failure in children with congenital heart disease are critical to enable the conduct of rigorous scientific studies to advance our understanding of the actual burden of heart failure in this population and to allow the development of evidence-based heart failure therapies that can improve outcomes for this high-risk cohort.
Assuntos
American Heart Association , Cardiopatias Congênitas , Insuficiência Cardíaca , Humanos , Insuficiência Cardíaca/terapia , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/fisiopatologia , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/epidemiologia , Adolescente , Criança , Estados Unidos/epidemiologia , Doença Crônica , Gerenciamento ClínicoRESUMO
Lymphatic failure is a broad term that describes the lymphatic circulation's inability to adequately transport fluid and solutes out of the interstitium and into the systemic venous circulation, which can result in dysfunction and dysregulation of immune responses, dietary fat absorption, and fluid balance maintenance. Several investigations have recently elucidated the nexus between lymphatic failure and congenital heart disease, and the associated morbidity and mortality is now well-recognized. However, the precise pathophysiology and pathogenesis of lymphatic failure remains poorly understood and relatively understudied, and there are no targeted therapeutics or interventions to reliably prevent its development and progression. Thus, there is growing enthusiasm towards the development and application of novel percutaneous and surgical lymphatic interventions. Moreover, there is consensus that further investigations are needed to delineate the underlying mechanisms of lymphatic failure, which could help identify novel therapeutic targets and develop innovative procedures to improve the overall quality of life and survival of these patients. With these considerations, this review aims to provide an overview of the lymphatic circulation and its vasculature as it relates to current understandings into the pathophysiology and pathogenesis of lymphatic failure in patients with congenital heart disease, while also summarizing strategies for evaluating and managing lymphatic complications, as well as specific areas of interest for future translational and clinical research efforts.
Assuntos
Cardiopatias Congênitas , Humanos , Cardiopatias Congênitas/terapia , Cardiopatias Congênitas/cirurgia , Linfedema/terapia , Sistema Linfático/fisiopatologia , Sistema Linfático/fisiologiaRESUMO
OBJECTIVES: To describe and compare maternal and fetal comorbidities and obstetrical outcomes in pregnancies with hypoplastic left and right heart (HLHS and HRH) single ventricle cardiac defects (SVCD) from a single center under a multidisciplinary protocol. METHOD: A single center retrospective review of fetal SVCD from 2013 to 2022. Maternal-fetal comorbidities, delivery, and postnatal outcomes were compared between HLHS and HRH using descriptive statistics and univariate and multivariate analyses. RESULTS: Of 181 SVCD pregnancies (131 HLHS; 50 HRH), 9% underwent termination, 4% elected comfort care, 5 died in utero and 147/152 liveborns survived to the first cardiac intervention. Cesarean delivery occurred in 57 cases (37%), planned in 36 and unplanned in 21. Comorbidities, which did not differ between HLHS and HRH, included fetal growth restriction (FGR, 17%), prematurity (14%), maternal hypertension (9%), maternal obesity (50%), fetal extracardiac anomalies and chromosome anomalies (12%, 13%). In multivariate analysis, only earlier gestational age at delivery and oligohydramnios predicted decreased odds of survival at one year. CONCLUSION: Maternal-fetal comorbidities are common in both HLHS and HRH. Earlier gestational age at delivery and oligohydramnios predict lower postnatal survival. FGR, even with severe early onset, did not significantly impact short- or long-term neonatal survival in single ventricle conditions.