RESUMO
Transcatheter patent ductus arteriosus (PDA) closure is a safe and effective alternative to surgical ligation in low-body-weight infants. Post-ligation cardiac syndrome (PLCS) is defined as severe hemodynamic and respiratory collapse within 24 h of PDA closure, requiring initiation or an increase of an inotropic agent by > 20% of preligation dosing and an absolute increase of at least 20% in ventilation parameters compared with the preoperative value. Whilst PLCS is routinely observed after surgery, its incidence remains poorly described following transcatheter closure. This study aimed to compare the incidence of PLCS after surgical versus transcatheter closure of PDA in low-body-weight premature infants. Propensity scores were used to compare surgical (N = 78) and transcatheter (N = 76) groups of preterm infants who underwent PDA closure at a procedural weight less than 2000 g in two tertiary institutions between 2009 and 2021. The primary outcome was the incidence of PLCS. Secondary outcomes included overall mortality before discharge, risk factors for PLCS, and post-procedural complications. Procedural success was 100% in both groups. After matching, transcatheter group experienced no PLCS vs 15% in the surgical group (p = 0.012). Furthermore, overall mortality (2% vs 17%; p = 0.03) and major complications (2% vs 23%; p = 0.002) were higher in the surgical group. Surgery (100% vs 47%; p < 0.01), gestation age (25 ± 1 vs 26 ± 2 weeks, p < 0.05) and inotropic support before closure (90% vs 29%; p < 0.001) were associated with PLCS occurrence. Conclusion: Transcatheter PDA closure may be equally effective but safer than surgical PDA closure in low-body-weight premature infants. What is Known: ⢠Post-ligation cardiac syndrome is a serious and common complication of surgical closure of the ductus arteriosus in preterm infants. ⢠Transcatheter closure of preterm ductus arteriosus is a safe and effective technique that is becoming more and more common worldwide. What is New: ⢠Device closure is safer than surgical ligation for patent ductus arteriosus closure in preterm infants and may be the first-line non-pharmacological therapeutic option in this indication in experienced teams. ⢠Our findings should encourage neonatologists and pediatric cardiologists to start and/or strengthen a durable interventional program for transcatheter PDA closure in premature infants.
Assuntos
Cateterismo Cardíaco , Permeabilidade do Canal Arterial , Recém-Nascido Prematuro , Complicações Pós-Operatórias , Humanos , Permeabilidade do Canal Arterial/cirurgia , Estudos Retrospectivos , Recém-Nascido , Feminino , Ligadura/métodos , Ligadura/efeitos adversos , Masculino , Cateterismo Cardíaco/métodos , Cateterismo Cardíaco/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Recém-Nascido de Baixo Peso , Incidência , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/métodos , Síndrome , Pontuação de Propensão , Dispositivo para Oclusão Septal , Fatores de Risco , Doenças do Prematuro/cirurgia , Doenças do Prematuro/etiologia , Doenças do Prematuro/terapia , Doenças do Prematuro/epidemiologiaRESUMO
Pediatric patients with congenital heart disease (CHD) often undergo low dose ionizing radiation (LDIR) from cardiac catheterization (CC) for the diagnosis and/or treatment of their disease. Although radiation doses from a single CC are usually low, less is known about the long-term radiation associated cancer risks. We aimed to assess the risk of lympho-hematopoietic malignancies in pediatric CHD patients diagnosed or treated with CC. A French cohort of 17,104 children free of cancer who had undergone a first CC from 01/01/2000 to 31/12/2013, before the age of 16 was set up. The follow-up started at the date of the first recorded CC until the exit date, i.e., the date of death, the date of first cancer diagnosis, the date of the 18th birthday, or the 31/12/2015, whichever occurred first. Poisson regression was used to estimate the LDIR associated cancer risk. The median follow-up was 5.9 years, with 110,335 person-years. There were 22,227 CC procedures, yielding an individual active bone marrow (ABM) mean cumulative dose of 3.0 milligray (mGy). Thirty-eight incident lympho-hematopoietic malignancies were observed. When adjusting for attained age, gender and predisposing factors to cancer status, no increased risk was observed for lympho-hematopoietic malignancies RR/mGy = 1.00 (95% CI: 0.88; 1.10). In summary, the risk of lympho-hematopoietic malignancies and lymphoma was not associated to LDIR in pediatric patients with CHD who undergo CC. Further epidemiological studies with greater statistical power are needed to improve the assessment of the dose-risk relationship.
Assuntos
Cardiopatias Congênitas , Neoplasias Hematológicas , Neoplasias Induzidas por Radiação , Humanos , Criança , Fatores de Risco , Neoplasias Induzidas por Radiação/epidemiologia , Neoplasias Induzidas por Radiação/etiologia , Radiação Ionizante , Neoplasias Hematológicas/epidemiologia , Neoplasias Hematológicas/complicações , Cateterismo Cardíaco/efeitos adversos , Doses de RadiaçãoRESUMO
We have developed a new technique avoiding autograft distortion and narrowing at inclusion during Ross procedure, in order to preserve the functional anatomy and the process of adaptation.
Assuntos
Insuficiência da Valva Aórtica , Valva Pulmonar , Valva Aórtica/cirurgia , Insuficiência da Valva Aórtica/cirurgia , Autoenxertos , Humanos , Valva Pulmonar/transplante , Reoperação/métodos , Transplante AutólogoRESUMO
The long-term prospective multi-centre nationwide (French) observational study FRANCISCO will provide new information on perimembranous ventricular septal defect with left ventricular overload but no pulmonary hypertension in children older than 1 year. Outcomes will be compared according to treatment strategy (watchful waiting, surgical closure, or percutaneous closure) and anatomic features of the defect. The results are expected to provide additional guidance about the optimal treatment of this specific population, which is unclear at present. BACKGROUND: The management of paediatric isolated perimembranous ventricular septal defect (pmVSD) with left ventricle (LV) volume overload but no pulmonary arterial hypertension (PAH) remains controversial. Three therapeutic approaches are considered: watchful waiting, surgical closure, and percutaneous closure. We aim to investigate the long-term outcomes of these patients according to anatomic pmVSD characteristics and treatment strategy. METHODS: The Filiale de Cardiologie Pediatrique et Congénitale (FCPC) designed the FRANCISCO registry, a long-term prospective nationwide multi-centre observational cohort study sponsored by the French Society of Cardiology, which enrolled, over 2 years (20182020), patients older than 1 year who had isolated pmVSD with LV volume overload. Prevalent complications related to pmVSD at baseline were exclusion criteria. Clinical, echocardiographic, and functional data will be collected at inclusion then after 1, 5, and 10 years. A core lab will analyse all baseline echocardiographic data to depict anatomical pmVSD features. The primary outcome is the 5-year incidence of cardiovascular events (infective endocarditis, sub-aortic stenosis, aortic regurgitation, right ventricular outflow tract stenosis, tricuspid regurgitation, PAH, arrhythmia, stroke, haemolysis, heart failure, or death from a cardiovascular event). We plan to enrol 200 patients, given the 10% estimated 5-year incidence of cardiovascular events with a 95% confidence interval of ±5%. Associations linking anatomical pmVSD features and treatment strategy to the incidence of complications will be assessed. CONCLUSIONS: The FRANSCICO study will provide the long-term incidence of complications in patients older than 1 year with pmVSD and LV volume overload. The results are expected to improve guidance for treatment decisions.
Assuntos
Insuficiência Cardíaca , Comunicação Interventricular , Dispositivo para Oclusão Septal , Cateterismo Cardíaco , Criança , Pré-Escolar , Comunicação Interventricular/epidemiologia , Comunicação Interventricular/cirurgia , Ventrículos do Coração/diagnóstico por imagem , Humanos , Estudos Observacionais como Assunto , Estudos Prospectivos , Resultado do TratamentoRESUMO
PURPOSE: The COCCINELLE study is a nationwide retrospective French cohort set up to evaluate the risk of cancer in patients who undergone cardiac catheterisation (CC) procedures for diagnosis or treatment of congenital heart disease during childhood. PARTICIPANTS: Children who undergone CC procedures from 1 January 2000 to 31 December 2013, before the age of 16 in one of the 15 paediatric cardiology departments which perform paediatric CC in mainland France were included. The follow-up started at the date of the first recorded CC procedure until the exit date, that is, the date of death, the date of first cancer diagnosis, the date of the 18th birthday or the 31 December 2015, whichever occurred first. The cohort was linked to the National Childhood Cancer Registry to identify patients diagnosed with cancer and with the French National Directory for the Identification of Natural Persons to retrieve the patients' vital status. FINDINGS TO DATE: A total of 17 104 children were included in the cohort and followed for 110 335 person-years, with 22 227 CC procedures collected. Among the patients, 81.6% received only one procedure. Fifty-nine cancer cases were observed in the cohort. Standardised incidence ratios (SIRs) were increased for all-cancer (SIR=3.8, 95% CI: 2.9 to 4.9), leukaemia (SIR=3.3, 95% CI: 2.0 to 5.4), lymphoma (SIR=14.9, 95% CI: 9.9 to 22.5) and solid cancers excluding central nervous system (CNS) tumours (SIR=3.3, 95% CI: 2.0 to 5.5) compared with the general population. FUTURE PLANS: Dose reconstruction is currently underway to estimate individual cumulative doses absorbed to relevant organs, including red bone marrow and brain for respectively haematologic disorders and CNS tumours risk estimation. A dose-response analysis will be conducted with consideration to confounding factors such as age at exposure, gender, predisposing factors to cancer and other sources of medical diagnostic low-dose ionising radiation.
Assuntos
Neoplasias , Cateterismo Cardíaco/efeitos adversos , Criança , França/epidemiologia , Humanos , Incidência , Neoplasias/epidemiologia , Neoplasias/etiologia , Radiação Ionizante , Estudos Retrospectivos , Fatores de RiscoRESUMO
OBJECTIVES: Diaphragmatic paralysis following congenital cardiac surgery is associated with significant morbidity and mortality. Spontaneous recovery of diaphragmatic function has been described, contrasting with centres providing early diaphragmatic plication. We aimed to describe the outcomes of a conservative approach, as well as to identify factors associated with a failure of the strategy. METHODS: This is a retrospective study of patients admitted after cardiac surgery and suffering unilateral diaphragmatic paralysis within 2 French Paediatric Cardiac Surgery Centers. The conservative approach, defined by the prolonged use of ventilation until successful weaning from respiratory support, was the primary strategy adopted in both centres. In case of unsuccessful evolution, a diaphragmatic plication was scheduled. Total ventilation time included invasive and non-invasive ventilation. Diaphragm asymmetry was defined by the number of posterior rib segments counted between the 2 hemi-diaphragms on the chest X-ray after cardiac surgery. RESULTS: Fifty-one neonates and infants were included in the analysis. Patients' median age was 12.0 days at cardiac surgery (5.0-82.0), and median weight was 3.5 kg (2.8-4.9). The conservative approach was successful for 32/51 patients (63%), whereas 19/51 patients (37%) needed diaphragm plication. There was no difference in patients' characteristics between groups. Respiratory support prolonged for 21 days or more and diaphragm asymmetry more than 2 rib segments were independently associated with the failure of the conservative strategy [odds ratio (OR) 6.9 (1.29-37.3); P = 0.024 and OR 6.0 (1.4-24.7); P = 0.013, respectively]. CONCLUSIONS: The conservative approach was successful for 63% of the patients. We identified risk factors associated with the strategy's failure.
Assuntos
Procedimentos Cirúrgicos Cardíacos , Paralisia Respiratória , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Criança , Diafragma/diagnóstico por imagem , Diafragma/cirurgia , Humanos , Lactente , Recém-Nascido , Nervo Frênico , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/terapia , Paralisia Respiratória/diagnóstico por imagem , Paralisia Respiratória/etiologia , Estudos RetrospectivosRESUMO
Leaflet reconstruction outcomes in young patients can be compromised by treated autologous pericardium utilization. We present a new and simple unicuspid/unicommissural aortic valve repair technique with an autologous pulmonary artery wall graft. With comparative and longitudinal follow-up studies, this technique could constitute a living reconstruction of the aortic valve that does not preclude a future Ross procedure.
Assuntos
Insuficiência da Valva Aórtica , Estenose da Valva Aórtica , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/cirurgia , Insuficiência da Valva Aórtica/diagnóstico por imagem , Insuficiência da Valva Aórtica/cirurgia , Doenças das Valvas Cardíacas , Humanos , Pericárdio/transplante , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/cirurgia , Transplante AutólogoRESUMO
BACKGROUND: Branch pulmonary artery stenosis complicates the management of congenital heart diseases. Surgical branch pulmonary artery angioplasty is associated with a high reintervention rate. As an alternative, percutaneous or intraoperative branch pulmonary artery stents have been implanted to improve efficiency, but long-term evaluations are limited. AIM: To describe the long-term evolution of branch pulmonary artery stents. METHODS: We conducted a retrospective cohort study at Tours University Hospital. All stents implanted by surgery or catheterization in branch pulmonary arteries with a minimum follow-up of 12 months and at least one catheterization control were included. The primary endpoint combined cardiovascular mortality, surgical or percutaneous reintervention for stent complication or new stent implantation. RESULTS: Between 2007 and 2017, 76 stents in 51 patients were included (62 stents implanted by surgery, 14 by catheterization). At implantation, the patients' mean age and weight were 4.7years (interquartile range 4.2years) and 17.3kg (interquartile range 11.0kg), respectively. Mean branch pulmonary artery minimum diameter was 4.1±2.1mm (mean Z-score-4.9±2.9), and mean initial stent diameter was 9.1±3.1mm. During a follow-up of 5.3years (range 0-11.2 years), freedom from primary endpoint was 86.8% (95% confidence interval 79.6-94.8%) at 1 year, 71.5% (95% confidence interval 61.9-82.7%) at 5years and 69.6% (95% confidence interval 59.6-81.2%) at 10 years. We did not identify any factors associated with major adverse cardiovascular events. Among stents without major adverse cardiovascular events, the mean branch pulmonary artery diameter Z-score at last evaluation had increased by +4.8±3.2 compared with the initial diameter (P<0.001). After stent implantation, a median of 2 re-expansions were performed for each stent (range 0-7). CONCLUSIONS: Stent implantation should offer a good long-term solution for branch pulmonary artery stenosis, although iterative re-expansions are required.
Assuntos
Procedimentos Endovasculares/instrumentação , Artéria Pulmonar/cirurgia , Estenose de Artéria Pulmonar/terapia , Stents , Procedimentos Cirúrgicos Vasculares/instrumentação , Pré-Escolar , Procedimentos Endovasculares/efeitos adversos , Feminino , Humanos , Masculino , Desenho de Prótese , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/crescimento & desenvolvimento , Circulação Pulmonar , Estudos Retrospectivos , Estenose de Artéria Pulmonar/diagnóstico por imagem , Estenose de Artéria Pulmonar/fisiopatologia , Fatores de Tempo , Resultado do Tratamento , Grau de Desobstrução Vascular , Procedimentos Cirúrgicos Vasculares/efeitos adversosRESUMO
BACKGROUND AND OBJECTIVE: Chronic total occlusion (CTO) guidewire have been recently reported as an alternative to radiofrequency for perforating atretic pulmonary valve. Since procedure failures or perforation of the right ventricle still occurred with CTO, we tried to enhance the stability, steering, and pushability of the wire using a microcatheter in order to improve the safety and efficacy of the procedure. METHODS: We performed pulmonary valve perforation with CTO guidewire and microcatheter in five consecutive newborns with pulmonary atresia with intact ventricular septum (PA-IVS) under fluoroscopic and echocardiographic control. RESULTS: The valve was easily perforated at the first attempt for all patients. After perforation, the microcatheter positioned in the main pulmonary artery allowed the exchange of the CTO guidewire for a more flexible wire, avoiding lesion and facilitating manipulation in the distal pulmonary branch arteries. The pulmonary valve was then dilated with balloons of increasing size as usually performed. We did not experience any procedural or early complications. Blalock-Taussig shunt was performed in 2 children because of a persistent cyanosis, 4 and 10 days after perforation. CONCLUSIONS: The combined use of a CTO guide and a microcatheter appears to be a safe and reliable technique for perforating the pulmonary valve of newborns with PA-IVS. Further procedures with this approach are needed to confirm this first experience.
Assuntos
Cateterismo Cardíaco/instrumentação , Procedimentos Cirúrgicos Cardíacos/métodos , Valva Pulmonar/cirurgia , Cirurgia Assistida por Computador/métodos , Angiografia , Ecocardiografia , Desenho de Equipamento , Feminino , Fluoroscopia , Seguimentos , Humanos , Recém-Nascido , Masculino , Miniaturização , Atresia Pulmonar/diagnóstico , Atresia Pulmonar/cirurgia , Valva Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
BACKGROUND: Several publications have considered results of percutaneous angioplasty for aortic recoarctation, but none focused on procedures performed in children aged<1 year. AIMS: To describe the immediate and midterm results of balloon angioplasty for recoarctation before the age of 1 year, and to define the factors that might influence outcome. METHODS: We retrospectively reviewed data from 20 consecutive children undergoing percutaneous dilatation for aortic recoarctation before the age of 1 year in the University Hospitals of Tours and Nantes. RESULTS: In all patients except one, dilatation improved the median recoarctation diameter Z-score from -5.5 (range -10.6 to -2.5) to -2.8 (range -4.3 to 0.7) (P<0.001), and reduced the median peak systolic gradient from 33mmHg (range 20 to 60mmHg) to 21mmHg (range 6 to 50mmHg) (P<0.001). There was no procedure-induced mortality and no acute intimal flap or long-term aneurysm. Three patients experienced a transient femoral artery thrombosis, one of whom had a transient ischemic stroke. Eight children (40%) needed reintervention for further recoarctation (new surgery [n=4] or new dilatation [n=4]). A smaller balloon size was significantly associated with the risk of reintervention: balloon to recoarctation diameter ratio 2.0 (range 1.3 to 3.3) vs. 2.7 (range 2.1 to 4.5) (P=0.05); balloon to descending aorta ratio 0.8 (range 0.7 to 1.2) vs. 1.0 (range 0.9 to 1.3) (P<0.05). CONCLUSIONS: In this study, percutaneous balloon angioplasty for recoarctation in young infants aged<1 year improved aortic isthmus diameter with a low incidence of adverse event. However, the rate of further intervention is high, and is associated with a smaller balloon size.
Assuntos
Angioplastia com Balão , Coartação Aórtica/terapia , Fatores Etários , Angioplastia com Balão/efeitos adversos , Angioplastia com Balão/instrumentação , Coartação Aórtica/diagnóstico por imagem , Coartação Aórtica/fisiopatologia , Aortografia , Ecocardiografia Doppler , Desenho de Equipamento , Hospitais Universitários , Humanos , Lactente , Recém-Nascido , Recuperação de Função Fisiológica , Recidiva , Retratamento , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Dispositivos de Acesso VascularRESUMO
PURPOSE: The distinction between physiologic (innocent) and pathologic (organic) heart murmurs is not always easy in routine practice, leading too often to unnecessary cardiology referrals and expensive investigations. We aimed to test the hypothesis that the complete disappearance of murmur on standing can exclude cardiac disease in children. METHODS: From January 2014 to January 2015, we prospectively included 194 consecutive children aged 2 to 18 years who were referred for heart murmur evaluation to pediatric cardiologists at 2 French medical centers. Heart murmur characteristics while supine and then while standing were recorded, and an echo-cardiogram was performed. RESULTS: Overall, 30 (15%) of the 194 children had a pathologic heart murmur as determined by an abnormal echocardiogram. Among the 100 children (51%) who had a murmur that was present while they were supine but completely disappeared when they stood up, only 2 had a pathologic murmur, and just 1 of them needed further evaluation. Complete disappearance of the heart murmur on standing therefore excluded a pathologic murmur with a high positive predictive value of 98% and specificity of 93%, albeit with a lower sensitivity of 60%. CONCLUSIONS: Disappearance of a heart murmur on standing is a reliable clinical tool for ruling out pathologic heart murmurs in children aged 2 years and older. This basic clinical assessment would avoid many unnecessary referrals to cardiologists.
Assuntos
Auscultação/métodos , Sopros Cardíacos/diagnóstico , Postura , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Estudos Prospectivos , Encaminhamento e Consulta/estatística & dados numéricos , Sensibilidade e Especificidade , Procedimentos DesnecessáriosRESUMO
BACKGROUND: Branch pulmonary artery (BPA) stenosis is frequently associated with congenital heart disease. Management of BPA stenosis is challenging for surgeons due to a high rate of recurrence. The purpose of this study was to assess the results of intraoperative pulmonary artery stenting associated with or without surgical angioplasty. METHODS: We included 33 children from our center between January 2008 and July 2014. Patients had pulmonary atresia with ventricular septal defect (13), tetralogy of Fallot (10), troncus arteriosus (4), double outlet right ventricle (2), and single left or right ventricle (4). A total of 44 balloon-expandable stents (mean diameter, 9.5 mm; range, 4 to 16 mm) were deployed in left or right PA under direct visualization, without the use of fluoroscopy, after branch angioplasty for 28 of them (64%). The mean age at surgery was 4.3 ± 4.3 years (range, 6 days to 15 years) and the mean weight was 14.3 ± 11.9 kg (range, 2.8 to 63 kg). RESULTS: Postoperative mortality was 9% (3 patients), but only 1 death was related to the stenting procedure. Twenty-five patients underwent angiographic control after a mean follow-up of 22 months after surgery. All stents were well positioned. The mean stented BPA Z-score increased from -2.6 ± 1.8 to -0.4 ± 1.6 (p < 0.0001). Eleven patients experienced intrastent proliferation (44%). Among them, 2 patients required a reoperation for severe intrastent stenosis, whereas the 9 others had mild intrastent neointimal proliferation, which was successfully managed by balloon expansion. CONCLUSIONS: Intraoperative stenting of BPA is a safe and effective option to treat BPA stenosis and prevent recurrence.
Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Procedimentos Endovasculares/métodos , Cardiopatias Congênitas/cirurgia , Artéria Pulmonar/cirurgia , Estenose de Artéria Pulmonar/cirurgia , Stents , Adolescente , Angiografia , Criança , Pré-Escolar , Feminino , Seguimentos , França/epidemiologia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Humanos , Incidência , Lactente , Recém-Nascido , Período Intraoperatório , Masculino , Complicações Pós-Operatórias/epidemiologia , Artéria Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Estenose de Artéria Pulmonar/diagnóstico , Estenose de Artéria Pulmonar/etiologia , Taxa de Sobrevida/tendências , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Rhabdomyomas are the most common benign cardiac tumors. They may often be associated with tuberous sclerosis. In many cases, cardiac rhabdomyomas undergo spontaneous regression. Here, we report the unusual case of an infant with a large nonobstructive right ventricular rhabdomyoma at birth and at four months of age, which subsequently caused severe right ventricle outflow tract obstruction at six months of age, prompting surgery to remove the tumor. Close monitoring should be done in infants with large nonobstructive cardiac rhabdomyomas.
Assuntos
Neoplasias Cardíacas/diagnóstico por imagem , Rabdomioma/diagnóstico por imagem , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagem , Progressão da Doença , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/cirurgia , Ventrículos do Coração/patologia , Humanos , Lactente , Masculino , Rabdomioma/complicações , Rabdomioma/cirurgia , Resultado do Tratamento , Ultrassonografia Pré-Natal , Obstrução do Fluxo Ventricular Externo/etiologia , Obstrução do Fluxo Ventricular Externo/cirurgiaRESUMO
BACKGROUND: Congenital heart defects are the most frequent malformations among newborns and a frequent cause of morbidity and mortality. Although genetic variation contributes to congenital heart defects, their precise molecular bases remain unknown in the majority of patients. METHODS AND RESULTS: We analyzed, by high-resolution array comparative genomic hybridization, 316 children with sporadic, nonsyndromic congenital heart defects, including 76 coarctation of the aorta, 159 transposition of the great arteries, and 81 tetralogy of Fallot, as well as their unaffected parents. We identified by array comparative genomic hybridization, and validated by quantitative real-time polymerase chain reaction, 71 rare de novo (n=8) or inherited (n=63) copy-number variants (CNVs; 50 duplications and 21 deletions) in patients. We identified 113 candidate genes for congenital heart defects within these CNVs, including BTRC, CHRNB3, CSRP2BP, ERBB2, ERMARD, GLIS3, PLN, PTPRJ, RLN3, and TCTE3. No de novo CNVs were identified in patients with transposition of the great arteries in contrast to coarctation of the aorta and tetralogy of Fallot (P=0.002; Fisher exact test). A search for transcription factor binding sites showed that 93% of the rare CNVs identified in patients with coarctation of the aorta contained at least 1 gene with FOXC1-binding sites. This significant enrichment (P<0.0001; permutation test) was not observed for the CNVs identified in patients with transposition of the great arteries and tetralogy of Fallot. We hypothesize that these CNVs may alter the expression of genes regulated by FOXC1. Foxc1 belongs to the forkhead transcription factors family, which plays a critical role in cardiovascular development in mice. CONCLUSIONS: These data suggest that deregulation of FOXC1 or its downstream genes play a major role in the pathogenesis of coarctation of the aorta in humans.
Assuntos
Coartação Aórtica/genética , Variações do Número de Cópias de DNA , Fatores de Transcrição Forkhead/genética , Animais , Coartação Aórtica/metabolismo , Feminino , Fatores de Transcrição Forkhead/metabolismo , Regulação da Expressão Gênica , Humanos , Masculino , Camundongos , Países BaixosRESUMO
BACKGROUND: Morbidity and mortality are higher for cardiac reoperations than first operation due to the presence of post-operative adhesions. We retrospectively evaluated the efficacy of the bioresorbable membrane Seprafilm to prevent pericardial adhesions after cardiac surgery in a paediatric congenital heart disease population. METHODS: Seventy-one children undergoing reoperations with sternotomy redo and cardiopulmonary bypass for congenital malformations were included. Twenty-nine of these patients were reoperated after previous application of Seprafilm (treatment group). The duration of dissection, aortic cross clamping and total surgery were recorded. A tenacity score was established for each intervention from the surgeon's description in the operating report. RESULTS: In multivariate analysis, the duration of dissection and the tenacity score were lower in the treatment than control group (p < 0.01), independent of age and interval since preceding surgery. CONCLUSION: Our results suggest that Seprafilm is effective in reducing the post-operative adhesions associated with infant cardiac surgery. We recommend the use of Seprafilm in paediatric cardiac surgery when staged surgical interventions are necessary.
Assuntos
Cardiopatias Congênitas/cirurgia , Ácido Hialurônico , Complicações Pós-Operatórias/prevenção & controle , Aderências Teciduais/prevenção & controle , Ponte Cardiopulmonar , Feminino , Humanos , Lactente , Masculino , Análise Multivariada , Pericárdio/cirurgia , Reoperação , Estudos Retrospectivos , Esternotomia , Aderências Teciduais/etiologiaRESUMO
BACKGROUND: Homozygous familial hypercholesterolemia (HFH) is a rare genetic disease leading to early onset atherosclerosis, due to high concentrations of LDL-C in the blood. Aortic root atheromas may be complicated by obstruction to left ventricle outflow or coronary stenosis. The aim of this study was to describe the progression of aortic root atheroma in patients requiring lipoprotein apheresis before 16 years of age and to examine the requirement of these patients for aortic surgery. METHOD: Clinical reports, lipid profiles and echocardiogram results were obtained retrospectively for patients with HFH from three French hemapheresis centers. Data are presented as group medians. RESULTS: Twenty patients were included, of which 53% had aortic root atheroma (as assessed by echocardiogram) before starting lipoprotein apheresis. These patients began lipoprotein apheresis later than children without aortic root atheroma (10.3 years old [range 5.6-15.9 years] vs. 5.0 years old [range 4.5-11.6 years], respectively, p < 0.05). After 16.4 years (range 2.2-22.8 years) of lipoprotein apheresis treatment, aortic root atheroma had progressed in 64% of patients. Five patients needed surgery for aortic stenosis, which was associated with a coronary artery by-pass for two of them. There were significantly more operations among patients with an aortic root atheroma at the beginning of lipoprotein apheresis than among patients without preexisting lesions (p < 0.01). One patient died after aorta replacement surgery during this period. CONCLUSION: Our results suggest that the initiation of lipoprotein apheresis before the onset of aortic root atheroma should reduce the requirement for aortic surgery.