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BACKGROUND: The increasing complexity of congenital cardiac surgery has led to greater utilization of extracorporeal membrane oxygenation (ECMO) support for children post-surgery. This study aims to identify risk factors for mortality and brain injury in pediatric patients requiring post-cardiotomy ECMO and to evaluate their neurological outcomes. METHODS: This retrospective study includes pediatric patients with congenital heart diseases who required ECMO after surgery. Risk factors for in-hospital mortality and brain injury were assessed. Neurodevelopmental status was determined using the Pediatric Cerebral Performance Category (PCPC) Scale at discharge and during follow-up. RESULTS: Between October 2014 and May 2021, 2651 pediatric patients underwent cardiac surgery, with 90 (3.4%) requiring ECMO. The mean age was 0.6 years, ranging from 1 day to 13 years and 7 months. ECMO was implemented for 45 patients due to CPB weaning failure (NW-CPB), 24 due to postoperative low-cardiac output syndrome (LCOS), and 21 for extracorporeal cardiopulmonary resuscitation (E-CPR). ECMO weaning was achieved in 73 patients (81%), with an overall mortality rate of 36%. Pre-implant lactate levels (OR: 1.13, 95% CI: 1.03-1.25; p = 0.009) and peak bilirubin levels (OR: 1.04, 95% CI: 0.87-1.24; p = 0.69) were risk factors for in-hospital mortality. Survival rates were 79% for LCOS, 60% for NW-CPB, and 48% for E-CPR. Brain injury incidence was 33%, with E-CPR being a significant risk factor (p = 0.006) and NW-CPB being protective (p = 0.001). Follow-up in November 2023 showed significant improvement in neurodevelopmental status (p < 0.001). CONCLUSION: Elevated pre-implant lactate and elevated bilirubin levels during ECMO are major risk factors for mortality. E-CPR is the primary risk factor for brain injury. Follow-up revealed significant improvements in neurodevelopmental outcomes.
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The population of adults with congenital heart disease (ACHD) is constantly growing. There seems to be a consensus that these patients are difficult to manage especially if compared to patients with acquired heart disease. The aim of this study is to compare outcomes and results of cardiac surgery in ACHD patients with a reference population of adults with acquired cardiac disease. Retrospective study of 5053 consecutive patients older than 18 years hospitalized for cardiac surgery during a 5-years period in our Institution. Two groups of patients were identified. Group I: 419 patients operated for congenital heart disease; Group II: 4634 patients operated for acquired heart disease. In each Group were identified low, medium, and high-risk patients, according to validated scores. Right ventricular outflow tract surgery was the most frequent procedure in Group I, while coronary artery by-pass grafting was the most common in Group II. Patients with ACHD were younger (37.8 vs. 67.7 years), with higher number of previous operations (32.1% vs. 6.9%), had longer post-ICU hospital stay (11 vs. 8 days) but had lower ICU stay (1 vs. 2 days), shorter assisted mechanical ventilation (12 vs. 14 h) and lower surgical mortality (1 vs. 3.7%) (all p < 0.001). No differences were found in term of post-operative complications (12.4 vs. 15%). The surgical treatment of ACHD patients can be done with excellent results and if compared with acquired cardiac disease patients they have better results with shorter ICU stay and lower mortality.
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Aortic valve replacement early in life may be inevitable. Ross operation, until present day, remains the favorite surgical option in pediatrics with irreparable aortic valve disease. Nonetheless, the necessity for re-operation was always its principal limitation due to aortic valve failure or homograft degeneration. We present our 25 years of experience in the pediatric population. From August 1994 until June 2018, 157 children below 18 years underwent the Ross operation. This retrospective review aims at assessing the long-term outcomes, as well as the risk factors for re-operation after Ross procedure. Median age was 10.9 years, of which seven patients were infants, 79 children, and 71 adolescents. The median follow-up time was 14 years. Hospital mortality was 0.6%. Freedom from autograft re-operation for children was 96.7% and 94.1% at 10 and 20 years, respectively; whereas for adolescents, it was 92.6% and 74.9% at 10 and 20 years. For children, freedom from homograft re-operation was 92.5%, 83.5%, and 56.2% at 10, 15, and 20 years; while for adolescents, it was 96.8%, 91.8%, and 86.7% at 10, 15, and 20 years. Homograft size (p = 0.008) and childhood (p = 0.05) were risk factors for homograft re-operation. Pulmonary valve diameter > 24 mm (p = 0.044) and adolescence (p = 0.032) were risk factors for autograft re-operation. Our experience demonstrated excellent early and late survival. While children have preferential outcomes concerning autograft re-operation, those who received a smaller homograft had a higher right-sided re-intervention incidence than adolescents. Pulmonary diameter > 24 mm at surgery was an indicator of future autograft failure.
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Insuficiência da Valva Aórtica , Estenose da Valva Aórtica , Implante de Prótese de Valva Cardíaca , Próteses Valvulares Cardíacas , Valva Pulmonar , Lactente , Adolescente , Criança , Humanos , Estenose da Valva Aórtica/cirurgia , Insuficiência da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Implante de Prótese de Valva Cardíaca/métodos , Valva Pulmonar/cirurgia , Resultado do Tratamento , Reoperação , SeguimentosRESUMO
In this paper, we present an exploratory study on the potential impact of holographic heart models and mixed reality technology on medical training, and in particular in teaching complex Congenital Heart Diseases (CHD) to medical students. Fifty-nine medical students were randomly allocated into three groups. Each participant in each group received a 30-minute lecture on a CHD condition interpretation and transcatheter treatment with different instructional tools. The participants of the first group attended a lecture in which traditional slides were projected onto a flat screen (group "regular slideware", RS). The second group was shown slides incorporating videos of holographic anatomical models (group "holographic videos", HV). Finally, those in the third group wore immersive, head-mounted devices (HMD) to interact directly with holographic anatomical models (group "mixed reality", MR). At the end of the lecture, the members of each group were asked to fill in a multiple-choice questionnaire aimed at evaluating their topic proficiency, as a proxy to evaluate the effectiveness of the training session (in terms of acquired notions); participants from group MR were also asked to fill in a questionnaire regarding the recommendability and usability of the MS Hololens HMDs, as a proxy of satisfaction regarding its use experience (UX). The findings show promising results for usability and user acceptance.
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Cardiopatias Congênitas , Estudantes de Medicina , Humanos , AprendizagemRESUMO
Adult congenital heart disease (ACHD) patients represent a growing population with increasing use of acute emergency department (ED) care. Providing comprehensive ED care necessitates an understanding of the most common clinical scenarios to improve morbidity and mortality in this population. The aim of this position document is to provide a consensus regarding the management of the most common clinical scenarios of ACHD patients presenting to the ED.
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Medicina de Emergência , Cardiopatias Congênitas , Cirurgia Torácica , Adulto , Consenso , Serviço Hospitalar de Emergência , Cardiopatias Congênitas/cirurgia , HumanosRESUMO
BACKGROUND: The management of patients with mechanical heart valves remains a major concern in populations with limited resources and medical facilities. This study reports the clinical outcomes of patients who underwent mechanical valve implantation in a sub-Saharan center over an 8-year period. METHODS: A total of 291 mechanical valves were implanted in 233 patients in our institution between February 2008 and June 2016. A total of 117 patients underwent mitral valve replacement (MVR, 50.2%), 57 had aortic valve replacement (AVR, 24.4%), and 59 underwent both AVR and MVR (double valve replacement [DVR], 25.7%). The mean age at surgery was 27.6 ± 13.4 years (range, 7-62 years). Rheumatic etiology was found in 80.6% of the patients. Hospital mortality, late deaths, and valve-related events were reviewed at follow-up (839 patient-years, range: 1-9.4 years, complete in 93%). RESULTS: The 30-day mortality was 4.7% (11/233). The overall survival at 1 and 6 years for the whole cohort was 88.8 ± 2.1% and 78.7 ± 3.3%, respectively. The 6-year survival for AVR, MVR, and DVR was 89.3 ± 4.8%, 73.2 ± 5.4%, and 79.3 ± 5.8%, respectively (p = 0.15). The freedom from neurologic events and anticoagulation-related bleeding at 6 years was 93.1 ± 2.1% and 78.9 ± 3.7%, respectively. No patient had reoperation at follow-up. No case of prosthetic valve thrombosis was identified. Eight full-term pregnancies were reported. CONCLUSION: This preliminary experience reports acceptable midterm results after mechanical heart valve implantation in our region. Both accurate surgical evaluation and strategies, either financial or social, facilitating patient's education and medical assistance are crucial to ensure good results. Long-term follow-up and further studies comparing current nonthrombogenic options are warranted to draw reliable conclusions.
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Doenças das Valvas Cardíacas/cirurgia , Implante de Prótese de Valva Cardíaca/instrumentação , Próteses Valvulares Cardíacas , Valvas Cardíacas/cirurgia , Adolescente , Adulto , Camarões , Criança , Feminino , Doenças das Valvas Cardíacas/diagnóstico por imagem , Doenças das Valvas Cardíacas/mortalidade , Doenças das Valvas Cardíacas/fisiopatologia , Implante de Prótese de Valva Cardíaca/efeitos adversos , Implante de Prótese de Valva Cardíaca/mortalidade , Valvas Cardíacas/diagnóstico por imagem , Valvas Cardíacas/fisiopatologia , Mortalidade Hospitalar , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/mortalidade , Gravidez , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
INTRODUCTION: Low-weight (<10 kg) children undergoing cardiac surgery with cardiopulmonary bypass are prone to dilution and consumption of soluble coagulation factors and fibrinogen. Low levels of fibrinogen may represent a possible cause of severe postoperative chest drain blood loss. The present study investigates the association between post-cardiopulmonary bypass fibrinogen levels and postoperative chest drain blood loss and severe bleeding, aiming to identify possible cut-off values to trigger specific interventions. METHODS: Prospective cohort study on 77 patients weighing <10 kg undergoing cardiac surgery with cardiopulmonary bypass. Haemostasis and coagulation data were collected before surgery (standard tests and thromboelastometry), after protamine (thromboelastometry) and at the arrival in the intensive care unit (standard tests). The primary outcome variable was severe bleeding (chest drain blood loss >30 ml kg-1/24h). RESULTS: Factors being independently associated with severe bleeding were the international normalized ratio and the fibrinogen levels at the arrival in the intensive care unit. Once corrected for other confounders, fibrinogen levels had an odds ratio of 0.2 (95% confidence interval = 0.011-0.54) per 1 gL-1 for severe bleeding. The discrimination power was fair (area under the curve = 0.770). The best cut-off value was identified at a fibrinogen level of 150 mg dL-1, with a sensitivity of 52%, a specificity of 85% and a positive predictive value of 60% for severe bleeding. CONCLUSION: Both a prolonged international normalized ratio and low fibrinogen levels were predictive for severe bleeding, underscoring the role of coagulation factors dilution and consumption in this specific patient population.
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Fibrinogênio/análise , Hemorragia Pós-Operatória/sangue , Coagulação Sanguínea , Peso Corporal , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Ponte Cardiopulmonar/efeitos adversos , Drenagem/efeitos adversos , Humanos , Lactente , Hemorragia Pós-Operatória/etiologia , Hemorragia Pós-Operatória/terapia , Estudos ProspectivosRESUMO
Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by various degrees of abnormalities in the liver, heart, eyes, vertebrae, kidneys, face, vasculature, skeleton, and pancreas. This case report describes a newborn child exhibiting a congenital neural tube defect and peculiar craniofacial appearance characterized by a prominent forehead, deep-set eyes, bulbous nasal tip, and subtle upper lip. Just a few hours after birth, congenital heart disease was suspected for cyanosis and confirmed by heart evaluation. In particular, echocardiography indicated pulmonary atresia with ventricular septal defect with severe hypoplasia of the pulmonary branches (1.5 mm), large patent ductus arteriosus and several major aortopulmonary collateral arteries. Due to the association of peculiar craniofacial appearance and congenital heart disease, a form of Alagille syndrome was suspected. In addition, on the fifth day after birth, the patient developed jaundice, had acholic stools, and high levels of conjugated bilirubin and gamma-glutamyltransferase (GGT) were detected in the blood. Genetic testing revealed the novel variant c.802del in a single copy of the JAG1 gene. No variants in the NOTCH2 gene were detected. To the best of our knowledge, this is the first clinical description of a congenital neural tube defect in a molecularly confirmed Alagille patient. This work demonstrates a novel pathogenic heterozygous JAG1 mutation is associated with an atypical form of Alagille syndrome, suggesting an increased risk for neural tube defects compared to other Alagille patients.
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Síndrome de Alagille/genética , Deleção de Genes , Proteína Jagged-1/genética , Síndrome de Alagille/sangue , Síndrome de Alagille/diagnóstico por imagem , Sequência de Bases , Bilirrubina/sangue , Eletrocardiografia , Feminino , Humanos , Recém-Nascido , Masculino , Linhagem , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/patologiaRESUMO
The population of patients with congenital heart disease (CHD) is continuously increasing with more and more patients reaching adulthood. A significant portion of these young adults will suffer from arrhythmias due to the underlying congenital heart defect itself or as a sequela of interventional or surgical treatment. The medical community will encounter an increasing challenge as even most of the individuals with complex congenital heart defects nowadays become young adults. Within the past 20 years, management of patients with arrhythmias has gained remarkable progress including pharmacological treatment, catheter ablation, and device therapy. Catheter ablation in patients with CHD has paralleled the advances of this technology in pediatric and adult patients with structurally normal hearts. Growing experience and introduction of new techniques like the 3D mapping systems into clinical practice have been particularly beneficial for this growing population of patients with abnormal cardiac anatomy and physiology. Finally, device therapies allowing maintanence of chronotropic competence and AV conduction, improving haemodynamics by cardiac resynchronization, and preventing sudden death are increasingly used. For pharmacological therapy, ablation procedures, and device therapy decision making requires a deep understanding of the individual pathological anatomy and physiology as well as detailed knowledge on natural history and long-term prognosis of our patients. Composing expert opinions from cardiology and paediatric cardiology as well as from non-invasive and invasive electrophysiology this position paper was designed to state the art in management of young individuals with congenital heart defects and arrhythmias.
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Arritmias Cardíacas , Procedimentos Cirúrgicos Cardíacos , Cardiologia , Morte Súbita Cardíaca , Cardiopatias Congênitas , Administração dos Cuidados ao Paciente , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/etiologia , Arritmias Cardíacas/terapia , Terapia de Ressincronização Cardíaca/métodos , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/métodos , Cardiologia/métodos , Cardiologia/tendências , Ablação por Cateter/métodos , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controle , Desfibriladores Implantáveis , Técnicas Eletrofisiológicas Cardíacas/métodos , Europa (Continente) , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/cirurgia , Humanos , Administração dos Cuidados ao Paciente/métodos , Administração dos Cuidados ao Paciente/normas , Adulto JovemRESUMO
Adult congenital heart disease (ACHD) patients are at risk for end-stage heart failure; heart transplantation (Htx) represents the only definitive therapy available although not easily achievable for all patients. The study aims to assess the pathway difficulties and outcomes of ACHD patients with end-stage heart failure referred for Htx evaluation. This is a single center retrospective study on ACHD patients with end-stage heart failure referred to Htx evaluation from 2004 to 2015. Demographic data, medical history, failure modality, and follow-up were obtained from patient charts. End-points were Htx list enrollment, transplant, and survival. Statistical analysis was performed comparing patients listed and not listed. There were 21 ACHD patients with end-stage heart failure referred to Htx evaluation. Transplant listing was declined for 12 (57%) meanwhile 9 patients were listed. Htx was successfully achieved in 3 patients after 24 and 36 months, respectively. Three patients are still on the wait list and three died while waiting, with a listed group mortality of 33.3% (3/9). Mortality occurred in first 18 months after Htx list enrollment. Not listed group mortality was 50% (6/12) and occurred after a median time of 17.5 months (IQR: 9-23 months). There was no difference in survival (P = 0.574) between listed and not listed (89, 63, and 63% vs. 83, 56, and 47% at 12-24-48 months). Follow-up median duration was 27 months (IQR: 14-56 months). Heart transplant listing for ACHD patients with end-stage heart failure is hard to obtain. Almost 2/3 of the patients were declined. Survival for these patients is reduced severely either in waiting list for transplant or excluded indicating the potential need of mechanical circulatory support as bridge to transplant or as destination therapy to improve survival likelihood.
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Cardiopatias Congênitas/cirurgia , Insuficiência Cardíaca/cirurgia , Transplante de Coração , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Listas de Espera , Adulto JovemRESUMO
AIMS: Supraventricular arrhythmias are a major cause of morbidity and mortality in adult patients with congenital heart disease (CHD). Intraoperative ablation offers an alternative for patients who failed ablation procedures or are requiring concomitant surgical intervention. We present our long-term results with the surgical treatment of arrhythmias in adults with CHD (ACHD) undergoing elective cardiac surgery and the clinical predictors for arrhythmia recurrence. METHODS AND RESULTS: Between 2002 and 2013, 80 consecutive patients with CHD, mean age of 39 years, underwent intraoperative ablation with monopolar irrigated radiofrequency during cardiac surgery procedures. Significant clinical predictors of arrhythmia recurrence were determined by univariate analysis. We performed 47 right-sided Maze procedures, and 33 Cox-Maze III procedures. In 75 survivors, the ablation was effective immediately. Over an average follow-up period of 72 months (12-155 months), arrhythmias recurred in nine (20%) patients after right-sided Maze, and in six (19%) patients after Cox-Maze III. Eleven patients were controlled with medical therapy, three underwent catheter ablation of the arrhythmia, and one required a permanent pacemaker. Preoperative arrhythmia length ≥3 years (P ≤ 0.001), tetralogy of Fallot (P ≤ 0.006), and preoperative atrial fibrillation (P ≤ 0.016) were associated with recurrence arrhythmia. Conversely, NYHA class <3 (P ≤ 0.047) was associated with a lower risk of recurrence. CONCLUSION: Surgical treatment of unresponsive supraventricular arrhythmia during concomitant cardiac surgery in ACHD is a safe and effective procedure. Freedom from arrhythmias recurrence is 75% after 6 years of follow-up. Long-term recurrence of arrhythmia in these patients seems to be strongly correlated to preoperative arrhythmia duration.
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Fibrilação Atrial/cirurgia , Flutter Atrial/cirurgia , Ablação por Cateter , Cardiopatias Congênitas/cirurgia , Taquicardia Supraventricular/cirurgia , Adolescente , Adulto , Idoso , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/etiologia , Fibrilação Atrial/fisiopatologia , Flutter Atrial/diagnóstico , Flutter Atrial/etiologia , Flutter Atrial/fisiopatologia , Ablação por Cateter/efeitos adversos , Intervalo Livre de Doença , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/fisiopatologia , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , Recidiva , Estudos Retrospectivos , Fatores de Risco , Taquicardia Supraventricular/diagnóstico , Taquicardia Supraventricular/etiologia , Taquicardia Supraventricular/fisiopatologia , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: In 2007, a partnership was initiated between a small-volume paediatric cardiac surgery unit located in Las Palmas de Gran Canaria, Spain, and a large-volume cardiac surgery unit located in Milan, Italy. The main goal of this partnership was to provide surgical treatment to children with CHD in the Canary Islands. METHODS: An operative algorithm for performing surgery in elective, urgent, and emergency cases was adopted by the this joint programme. Demographic and in-hospital variables were collected from the medical records of all the patients who had undergone surgical intervention for CHD from January, 2009 to March, 2013. Data were introduced into the congenital database of the European Congenital Heart Surgeons Association Congenital Database and the database was interrogated. RESULTS: In total, 65 surgical mission trips were performed during the period of this study. The European Congenital Heart Surgeons Association Congenital Database documented 214 total patients with a mean age at operation of 36.45 months, 316 procedures in total with 198 cardiopulmonary bypass cases, 46 non-cardiopulmonary bypass cases, 26 cardiovascular cases without cardiopulmonary bypass, 22 miscellaneous other types of cases, 16 interventional cardiology cases, six thoracic cases, one non-cardiac, non-thoracic procedure on a cardiac patient with cardiac anaesthesia, and one extracorporeal membrane oxygenation case. The 30-day mortality was 6.07% (13 patients). CONCLUSIONS: A joint programme between a small-volume centre and a large-volume centre may represent a valid and reproducible model for safe paediatric cardiac surgery in the context of a peripheral region.
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Procedimentos Cirúrgicos Cardíacos/métodos , Cardiologia/organização & administração , Cardiopatias Congênitas/cirurgia , Avaliação de Resultados em Cuidados de Saúde , Sociedades Médicas , Especialidades Cirúrgicas/organização & administração , Pré-Escolar , Europa (Continente) , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
Mucormycosis is an angioinvasive infection caused by ubiquitous filamentous fungi of the order Mucorales. We describe a case of rhinocerebral mucormycosis presented in a paediatric patient after cardiac surgery correction of a complete atrioventricular canal defect. The rhinocerebral form of mucormycosis in our patient presented as an important epistaxis that needed immediate intubation due to blood inhalation. Furthermore, due to the worsening of pulmonary function, the patient also needed mechanical support with veno-arterial extracorporeal membrane oxygenation. The patient died as a consequence of a disseminated form of fungal infection. We describe our experience of this rare opportunistic infection and we think that early recognition of the disease could help in proper management.
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Thanks to the improvement of surgical and interventional cardiac procedures, the majority of children with congenital heart defects (CHD) can now be expected to reach adulthood. The number of adults with congenital heart disease (ACHD) will inevitably increase, and recent data affirm that in Europe, we are actually faced with an estimated patient population of 2.3 million. These patients, particularly the adults with moderate and highly complex CHD, can be very difficult to manage, and should be treated in few experienced and specialized 'grown-up congenital heart disease' (GUCH) units, concentrating resources, patients, funding, and professional experiences. On 2000, we created a GUCH unit in our hospital that rapidly became a referral centre in Italy for number and complexity of patients treated. The present study is a presentation of how is organized our GUCH unit and a brief overview of our more recent experience with ACHD patients.
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Extracorporeal Membrane Oxygenation (ECMO) represents a useful tool to support the lungs and the heart when all conventional therapies failed and the patients are at risk of death. While the Extracorporeal Life Support Organization (ELSO) collects data from different institutions that joined the Registry and reports overall outcome, individual centres often collide with results below expectations, either in adults and in paediatric population. Some authors suggest that poor outcomes could be overcome with a programme dedicated to ECMO, with specialized professionals adequately trained on ECMO and with a consistent number of procedures. In 2012, The IRCCS PSD ECMO Programme was instituted with the specific aim of achieving better results than hitherto obtained. After only 1 year of activity, the results justified the programme, with a better survival rate for each group investigated, particularly in adults, but surprisingly in paediatrics too, where the results were better than what reported by ELSO. Although the number of patients treated with ECMO is still growing up, the effects of the ECMO programme continue to exert a positive action on outcome even now. The present article reports data on survival, blood loss, and blood consumption during ECMO in the last few years at our institution.
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Cooperation activity in training programmes promoted by IRCCS Policlinico San Donato and Bambini Cardiopatici nel Mondo Association is a model of cooperation between people as an alternative intervention in promoting the right to healthcare, especially offering programmes of training and medical care on cardiovascular and congenital heart disease. This new strategy, implemented in several developing countries, has absolutely contributed to the improvement of the medical services concerning the diagnostic and surgical approach in the treatment of paediatric and adult cardiovascular disease. To strengthen this kind of activity, both IRCCS Policlinico San Donato and Bambini Cardiopatici nel Mondo have introduced a global perspective aiming at the realization of surgical missions 'in situ', building new cardiac surgery units in collaboration with the local partners, which are mainly university hospitals. They, furthermore, support financially the scholarship and accommodation in favour of medical and paramedical staff.
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Williams-Beuren syndrome (WBS) is a genetic disorder caused by elastin gene deletions, and is characterized by cardiovascular malformations, primarily including supravalvular aortic stenosis and peripheral pulmonary stenosis. We report a case of a neonate who developed severe discrete aortic coarctation, underwent multiple surgical interventions, and was subsequently diagnosed with WBS. Severe discrete aortic coarctation is a rare event in WBS newborns. An abnormally thick aortic wall is present in these patients and is the basis of the failure of the classical approach towards coarctation repair, which consists of end-to-end anastomosis as first surgical choice. Our case, and a very few similar previously documented cases, have all demonstrated recoarctation, which only aortic patch implantation was able to successfully repair. In light of this, we would also like to underline the importance of early WBS diagnosis. Therefore, even in mild syndromic phenotype such as low birth weight or facial dysmorphism that raise the suspicion of a genetic syndrome, it is advisable to perform fluorescent in situ hybridization analysis rather than merely karyotypic one.
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Coartação Aórtica/etiologia , Elastina/genética , Síndrome de Williams/fisiopatologia , Coartação Aórtica/genética , Feminino , Deleção de Genes , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Síndrome de Williams/diagnóstico , Síndrome de Williams/genéticaRESUMO
OBJECTIVES: The purpose of this study was to investigate whether the objective medical parameters related to congenital heart disease and patients' ratings of cardiac disease severity were related to psychological well-being and illness behaviour during the pre-operative period. METHODS: A total of 143 patients (63 male patients; 16-73 years old) with congenital heart disease evaluated the severity of their cardiac condition using a numerical rating scale ranging from 0, indicating the least severe condition, to 100, indicating the most severe condition. Psychological well-being was assessed using the Psychological General Well-Being Index (total score ≤ 60 indicating severe distress) and illness behaviour using the Illness Behavior Questionnaire. RESULTS: Pre-operative psychological well-being was not related to the objective medical parameters reflecting cardiac disease severity. In contrast, total psychological well-being scores correlated significantly with patients' subjective ratings of disease severity (p < 0.001). When compared with the reference values from the Italian population, the mean scores of the patients on psychological well-being were similar. As regards the Illness Behavior Questionnaire, the scores on denial were higher and those on hypochondria were lower compared with other hospitalised patients. CONCLUSIONS: This study shows that the perception of cardiac disease severity, and not the medical parameters in congenital heart disease, is related to the patients' pre-operative psychological state. Thus, more importance needs to be given to assessing the patients' pre-operative perception and psychological state independently of cardiac severity. Targeted interventions with regard to the cardiac condition are recommended.
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Atitude Frente a Saúde , Cardiopatias Congênitas/psicologia , Comportamento de Doença , Período Pré-Operatório , Estresse Psicológico/psicologia , Adolescente , Adulto , Idoso , Negação em Psicologia , Feminino , Cardiopatias Congênitas/fisiopatologia , Cardiopatias Congênitas/cirurgia , Humanos , Hipocondríase/psicologia , Masculino , Pessoa de Meia-Idade , Satisfação Pessoal , Qualidade de Vida , Índice de Gravidade de Doença , Inquéritos e Questionários , Adulto JovemRESUMO
Although survival has significantly improved in the last four decades, the diagnosis of Ebstein's anomaly is still associated with a 20-fold increased risk of mortality, which generally drops after neonatal period and increases subtly thereafter. With increasing age of presentation, appropriate timing of intervention is challenged by a wide spectrum of disease and paucity of data on patient-tailored interventional strategies. The present review sought to shed light on the wide grey zone of post-neonatal Ebstein's manifestations, highlighting current gaps and achievements in knowledge for adequate risk assessment and appropriate therapeutic strategy.A 'wait-and-see' approach has been adopted in many circumstances, though its efficacy is now questioned by the awareness that Ebstein's anomaly is not a benign disease, even when asymptomatic. Moreover, older age at intervention showed a negative impact on post-surgical outcome.In order to tackle the extreme heterogeneity of Ebstein's anomaly, this review displays the multimodality imaging assessment necessary for a proper anatomical classification and the multidisciplinary approach needed for a comprehensive risk stratification and monitoring strategy. Currently available predictors of clinical outcome are summarised for both operated and unoperated patients, with the aim of supporting the decisional process on the choice of appropriate therapy and optimal timing for intervention.
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Anomalia de Ebstein , Recém-Nascido , Criança , Adulto , Humanos , Anomalia de Ebstein/diagnóstico por imagem , Anomalia de Ebstein/cirurgia , Medição de Risco , Imagem MultimodalRESUMO
We describe a case of a voluminous rhabdomyoma (R) detected by fetal echocardiography at 32 weeks' gestation (w.g.) obstructing the left ventricular inflow and aortic outflow tract, with a moderate aortic gradient at birth, not needing immediate surgery. At follow-up, the mass progressively regressed, leaving the aortic valve partly damaged, with a gradient that increased to a maximum of 100 mmHg at 9 years. The girl was then operated on successfully by a plasty of the aortic valve. The literature regarding R is discussed.