RESUMO
OBJECTIVES: This study set out to examine outcomes from pediatric supraventricular tachycardia ablations over a 20-year period. This study sought to examine success rates and repeat ablations over time and to evaluate whether modalities such as 3-dimensional (3D) mapping, contact force, and cryotherapy have improved outcomes. BACKGROUND: Ablation of supraventricular tachycardia in pediatric patients is commonly performed in most congenital heart centers with excellent long-term results. METHODS: Data were retrieved from the NICOR (National Institute of Clinical Outcomes Research) database in the United Kingdom. Outcomes over time were evaluated, and procedure-related details were compared. RESULTS: There were 7,069 ablations performed from January 1, 1999, to December 31, 2018, at 10 centers. Overall, ablation success rates were 92% for accessory pathways, 97% for atrioventricular node re-entry tachycardia, and 89% for atrial tachycardia. There was an improvement in procedural success rates over time (p < 0.01). The use of 3D mapping did not alter success or need for repeat ablation but was associated with a higher proportion of lower fluoroscopy cases; 55% of 3D mapping cases used <5 min of fluoroscopy (p < 0.01). Patients needing a repeat ablation were 341 (12%) for accessory pathways, 128 (7%) for atrioventricular node re-entry tachycardia, and 35 (7%) for atrial tachycardia. Overall, the risk of complete heart block was low (n = 12, <0.01%). The use of cryotherapy was associated with an increased risk of needing a repeat ablation. CONCLUSIONS: Overall success rates from pediatric ablations are excellent and compare favorably to other registries. Introduction of newer technologies have likely made procedures safer and reduced radiation exposure, but they have not changed success rates or the need for a repeat procedure.
Assuntos
Feixe Acessório Atrioventricular , Ablação por Cateter , Taquicardia por Reentrada no Nó Atrioventricular , Taquicardia Supraventricular , Criança , Fluoroscopia , Humanos , Taquicardia por Reentrada no Nó Atrioventricular/cirurgia , Taquicardia Supraventricular/epidemiologia , Taquicardia Supraventricular/cirurgiaRESUMO
BACKGROUND: Triadin knockout syndrome (TKOS) is a rare, inherited arrhythmia syndrome caused by recessive null mutations in TRDN-encoded cardiac triadin. Based previously on 5 triadin null patients, TKOS has been characterized by extensive T-wave inversions, transient QT prolongation, and severe disease expression of exercise-induced cardiac arrest in early childhood refractory to conventional therapy. METHODS: We have established the International Triadin Knockout Syndrome Registry to include patients who have genetically proven homozygous/compound heterozygous TRDN null mutations. Clinical/genetic data were collected using an online survey generated through REDCap. RESULTS: Currently, the International Triadin Knockout Syndrome Registry includes 21 patients (11 males, average age of 18 years) from 16 families. Twenty patients (95%) presented with either cardiac arrest (15, 71%) or syncope (5, 24%) at an average age of 3 years. Mild skeletal myopathy/proximal muscle weakness was noted in 6 (29%) patients. Of the 19 surviving patients, 16 (84%) exhibit T-wave inversions, and 10 (53%) have transient QT prolongation > 480 ms. Eight of 9 patients had ventricular ectopy on exercise stress testing. Thirteen (68%) patients have received implantable defibrillators. Despite various treatment strategies, 14 (74%) patients have had recurrent breakthrough cardiac events. CONCLUSION: TKOS is a potentially lethal disease characterized by T-wave inversions in the precordial leads, transient QT prolongation in some, and recurrent ventricular arrhythmias at a young age despite aggressive treatment. Patients displaying this phenotype should undergo TRDN genetic testing as TKOS may be a cause for otherwise unexplained cardiac arrest in young children. As gene therapy advances, enrollment into the International Triadin Knockout Syndrome Registry is encouraged to better understand TKOS and to ready a well-characterized cohort for future TRDN gene therapy trials.
Assuntos
Arritmias Cardíacas/patologia , Proteínas de Transporte/genética , Proteínas Musculares/genética , Adolescente , Antagonistas Adrenérgicos beta/uso terapêutico , Arritmias Cardíacas/tratamento farmacológico , Arritmias Cardíacas/genética , Criança , Pré-Escolar , Desfibriladores Implantáveis , Eletrocardiografia , Exercício Físico , Feminino , Parada Cardíaca/diagnóstico , Parada Cardíaca/etiologia , Humanos , Masculino , Proteínas Musculares/deficiência , Sistema de RegistrosRESUMO
BACKGROUND: Although ventricular fibromas are rare, they are the second most common type of cardiac tumor in children. While histologically benign, they have a propensity to cause malignant arrhythmias, with cardiac arrest often being the first presentation. OBJECTIVE: The purpose of this study was to evaluate the arrhythmia risk and management strategies for pediatric ventricular fibromas. METHODS: Fifteen centers in the British Paediatric Arrhythmia Group network were contacted to partake in the study to contribute cases. A detailed database search was performed at 2 hospitals for cases of ventricular fibromas. RESULTS: A total of 19 patients were included in the study. Arrhythmias were common, with 5 patients presenting with cardiac arrest and 5 others having documented ventricular tachycardia. Nine patients have undergone surgical resection at various hospitals, and all these patients have survived with good long-term outcomes. One patient who did not have any treatment died, presumably of a ventricular arrhythmia; another died of metastatic disease. There were no recurrences of arrhythmia after surgery, and the need for a defibrillator was alleviated in all cases. CONCLUSION: Ventricular fibromas have a high propensity to cause malignant arrhythmias, and if they are not managed appropriately, mortality is high. The outcomes of surgical resection are good, regardless of size, and this represents the best therapeutic option, with most patients being symptom free in the longer term.
Assuntos
Arritmias Cardíacas/etiologia , Fibroma/complicações , Previsões , Neoplasias Cardíacas/complicações , Arritmias Cardíacas/epidemiologia , Criança , Pré-Escolar , Feminino , Fibroma/diagnóstico , Fibroma/mortalidade , Seguimentos , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/mortalidade , Ventrículos do Coração , Humanos , Incidência , Lactente , Recém-Nascido , Irlanda/epidemiologia , Imagem Cinética por Ressonância Magnética , Masculino , Taxa de Sobrevida/tendências , Reino Unido/epidemiologiaRESUMO
Aims: Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia. The aim of this study was to categorize the phenotypes and examine the outcomes of patients with TS. Methods and results: All patients diagnosed with TS in the United Kingdom over a 24-year period were reviewed. Fifteen centres in the British Congenital Arrhythmia Group network were contacted to partake in the study. Six patients with TS were identified over a 24-year period (4 boys and 2 girls). Five out of the six patients were confirmed to have a CACNA1C mutation (p.Gly406Arg) and the other patient was diagnosed clinically. Early presentation with heart block, due to QT prolongation was frequently seen. Four are still alive, two of these have a pacemaker and two have undergone defibrillator implantation. Five out of six patients have had a documented cardiac arrest with three occurring under general anaesthesia. Two patients suffered a cardiac arrest while in hospital and resuscitation was unsuccessful, despite immediate access to a defibrillator. Surviving patients seem to have mild developmental delay and learning difficulties. Conclusion: Timothy syndrome is a rare disorder with a high attrition rate if undiagnosed. Perioperative cardiac arrests are common and not always amenable to resuscitation. Longer-term survival is possible, however, patients invariably require pacemaker or defibrillator implantation.
Assuntos
Transtorno Autístico , Síndrome do QT Longo , Sindactilia , Transtorno Autístico/complicações , Transtorno Autístico/genética , Transtorno Autístico/fisiopatologia , Transtorno Autístico/terapia , Canais de Cálcio Tipo L/genética , Estimulação Cardíaca Artificial , Desfibriladores Implantáveis , Cardioversão Elétrica/instrumentação , Eletrocardiografia , Feminino , Predisposição Genética para Doença , Parada Cardíaca/etiologia , Parada Cardíaca/fisiopatologia , Parada Cardíaca/terapia , Bloqueio Cardíaco/etiologia , Bloqueio Cardíaco/fisiopatologia , Bloqueio Cardíaco/terapia , Humanos , Lactente , Recém-Nascido , Síndrome do QT Longo/complicações , Síndrome do QT Longo/genética , Síndrome do QT Longo/fisiopatologia , Síndrome do QT Longo/terapia , Masculino , Mutação , Marca-Passo Artificial , Fenótipo , Prognóstico , Ressuscitação , Sindactilia/complicações , Sindactilia/genética , Sindactilia/fisiopatologia , Sindactilia/terapia , Fatores de Tempo , Reino UnidoRESUMO
We present the case of two siblings who both presented with an out-of-hospital cardiac arrest at 2 years of age. Both siblings underwent internal cardiac defibrillator implantation and both had recurrent episodes of ventricular fibrillation (VF). A compound heterozygous mutation in the triadin gene was discovered; one of these mutations has been described previously in the homozygous state, and the other one is unreported. The combination of these mutations has resulted in a particularly arrhythmogenic phenotype, with cardiac arrest occurring at a very young age and recurrent episodes of VF despite ß-blockade. Flecainide seems to have been very effective in preventing clinical arrhythmias for this particular mutation.
Assuntos
Proteínas de Transporte/genética , Parada Cardíaca/genética , Proteínas Musculares/genética , Mutação , Pré-Escolar , Feminino , Heterozigoto , Humanos , Masculino , LinhagemRESUMO
BACKGROUND: SelectSecure™ pacing leads (Medtronic Inc) are increasingly being used in pediatric patients and adults with structural congenital heart disease. The 4Fr lead is ideal for patients who may require lifelong pacing and can be advantageous for patients with complex anatomy. OBJECTIVE: The purpose of this study was to compare the extraction of SelectSecure leads with conventional (stylette-driven) pacing leads in patients with structural congenital heart disease and congenital atrioventricular block. METHODS: The data on lead extractions from pediatric and adult congenital heart disease (ACHD) patients from August 2004 to July 2014 at Bristol Royal Hospital for Children and the Bristol Heart Institute were reviewed. Multivariable regression analysis was used to determine whether conventional pacing leads were associated with a more difficult extraction process. RESULTS: A total of 57 patients underwent pacemaker lead extractions (22 SelectSecure, 35 conventional). No deaths occurred. Mean age at the time of extraction was 17.6 ± 10.5 years, mean weight was 47 ± 18 kg, and mean lead age was 5.6 ± 2.6 years (range 1-11 years). Complex extraction (partial extraction/femoral extraction) was more common in patients with conventional pacing leads at univariate (P < .01) and multivariate (P = .04) levels. Lead age was also a significant predictor of complex extraction (P < .01). CONCLUSION: SelectSecure leads can be successfully extracted using techniques that are used for conventional pacing leads. They are less likely to be partially extracted and are less likely to require extraction using a femoral approach compared with conventional pacing leads.
Assuntos
Bloqueio Atrioventricular/congênito , Bloqueio Atrioventricular/terapia , Remoção de Dispositivo/métodos , Cardiopatias Congênitas/terapia , Marca-Passo Artificial/efeitos adversos , Adolescente , Estimulação Cardíaca Artificial/métodos , Feminino , Humanos , Masculino , Análise MultivariadaRESUMO
Certain pediatric patients undergoing surgery for the most severe forms of congenital heart disease are exposed to high doses of ionizing radiation. The amount of cumulative radiation exposure from all modalities has not yet been evaluated. The purpose of our study was to evaluate the cumulative radiation exposure in a contemporary cohort of patients with congenital heart disease undergoing single-ventricle palliation. This is a single-center, retrospective study of pediatric patients undergoing Fontan completion between May 2005 and May 2010. Radiation exposure from all procedures including cardiac catheterizations, computed tomography (CT) scans, plain film radiography, and nuclear medicine scans was evaluated. Radiation dose was calculated as the dose area product (µGy m(2)) and was measured in all cardiac catheterizations, CT scans, and other imaging modalities. Seventy patients who underwent Fontan completion at a mean age of 3.6 ± 1.5 years (range 1.4-8 years) were included in the study. Mean number of chest X-rays was 32 ± 8 (range 10-285) with a mean cumulative total exposure of 1,320 µGy m(2) (range 480-12,960) per patient. Mean number of cardiac catheterizations was 2.45 ± 1.3 (range 1-8), and mean fluoroscopy and cine angiography exposures per case were 1,103 ± 245 and 1,412 ± 273 µGy m(2) giving a mean cumulative exposure of 9,054 µGy m(2) (range 2,515-201,200) per patient for all catheterizations. Mean number of CT scans performed was 0.44 ± 0.4 (0-11), and the mean exposure was 352 µGy m(2), giving a mean cumulative total of 154 µGy m(2) (range 0-3,872) per person. A total of five lung perfusion scans were carried out. Radiation exposure in patients with congenital heart disease undergoing single-ventricle palliation is quite variable. Most of the exposure to ionizing radiation occurs during cardiac catheterization. Strategies to utilize other imaging modalities such as MRI would decrease exposure in this particular group of patients who may be particularly vulnerable to its side effects.
Assuntos
Cardiopatias Congênitas/diagnóstico , Ventrículos do Coração/anormalidades , Cateterismo Cardíaco/estatística & dados numéricos , Criança , Pré-Escolar , Diagnóstico por Imagem , Feminino , Técnica de Fontan , Cardiopatias Congênitas/cirurgia , Humanos , Síndrome do Coração Esquerdo Hipoplásico/diagnóstico , Síndrome do Coração Esquerdo Hipoplásico/cirurgia , Lactente , Pulmão/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Radiação Ionizante , Cintilografia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/estatística & dados numéricosRESUMO
The Medtronic LINQ™ was inserted in an 11-month-old boy for close monitoring of rapid ventricular tachycardia. The device is much smaller than the conventional Medtronic loop recorder. The real advantage of the LINQ™ is that it automatically notifies Carelink if any ventricular tachycardia is seen, which is very advantageous for this particular type of patient. This device is ideal for close monitoring of asymptomatic yet potentially dangerous arrhythmias in smaller children.
Assuntos
Eletrocardiografia Ambulatorial/métodos , Taquicardia Ventricular/diagnóstico , Esclerose Tuberosa/complicações , Humanos , Lactente , MasculinoRESUMO
Type B interrupted aortic arch results in the left subclavian artery being perfused by a patent ductus arteriosus and antegrade flow is usually seen in the left subclavian artery. We describe a case of retrograde perfusion of the left subclavian artery through the circle of Willis in the presence of interrupted aortic arch type B and a restrictive patent ductus arteriosus. This is similar to subclavian steal syndrome when the perfusion pressure from the cerebral circuit is greater than that from the left subclavian artery. Early recognition of this phenomenon may alter management by indicating restriction at ductal level. This case highlights the need for a comprehensive review of both ventricular systolic function and ductal haemodynamics when retrograde flow is seen in the subclavian artery.
Assuntos
Aorta Torácica , Procedimentos Cirúrgicos Cardiovasculares/métodos , Permeabilidade do Canal Arterial , Comunicação Interventricular , Malformações Vasculares , Angiografia , Aorta Torácica/anormalidades , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/fisiopatologia , Aorta Torácica/cirurgia , Permeabilidade do Canal Arterial/diagnóstico , Permeabilidade do Canal Arterial/fisiopatologia , Permeabilidade do Canal Arterial/cirurgia , Ecocardiografia , Comunicação Interventricular/diagnóstico , Comunicação Interventricular/fisiopatologia , Comunicação Interventricular/cirurgia , Hemodinâmica , Humanos , Recém-Nascido , Masculino , Artéria Subclávia/anormalidades , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/fisiopatologia , Artéria Subclávia/cirurgia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Malformações Vasculares/diagnóstico , Malformações Vasculares/fisiopatologia , Malformações Vasculares/cirurgia , Artéria Vertebral/anormalidades , Artéria Vertebral/diagnóstico por imagem , Artéria Vertebral/fisiopatologia , Artéria Vertebral/cirurgiaRESUMO
BACKGROUND: Pediatric restrictive cardiomyopathy carries a poor prognosis secondary to a high risk of sudden death previously attributed to ventricular tachyarrhythmias. The extent of conduction abnormalities in this population and their relationship to life-threatening events has not been previously reported. METHODS AND RESULTS: A retrospective study of pediatric patients with restrictive cardiomyopathy diagnosed between April 1994 and May 2011 was performed. Demographic, cardiac, and ECG characteristics and the mechanisms of serious arrhythmic events (death or episode of acute hemodynamic compromise thought to be secondary to arrhythmia) were evaluated. Sixteen patients (1-17 years of age) were reviewed, with 5 sudden cardiac events noted, including 4 deaths. Two deaths were caused by development of acute heart block; another patient with syncope had intermittent heart block and survived as the result of pacing features of an implanted defibrillator system. The median PR interval (222 versus 144 ms; P<0.01) and the QRS duration (111 versus 74; P=0.01) were significantly longer in those who had an acute cardiac event. Older age at presentation was associated with sudden cardiac events (P<0.01). No other functional or echocardiographic variables were associated with a sudden cardiac event. CONCLUSIONS: Pediatric patients with restrictive cardiomyopathy are at risk for acute high-grade heart block, and, in this cohort, bradycardic events represented a significant portion of all arrhythmic events. Aggressive ECG monitoring strategies looking for conduction system disease should be ongoing in all patients with restrictive cardiomyopathy. Implantation of a defibrillator/pacemaker should be considered as prophylactic management.
Assuntos
Arritmias Cardíacas/etiologia , Cardiomiopatia Restritiva/complicações , Sistema de Condução Cardíaco/fisiopatologia , Adolescente , Arritmias Cardíacas/epidemiologia , Arritmias Cardíacas/fisiopatologia , Cateterismo Cardíaco , Cardiomiopatia Restritiva/diagnóstico , Cardiomiopatia Restritiva/fisiopatologia , Causas de Morte/tendências , Criança , Pré-Escolar , Morte Súbita Cardíaca/epidemiologia , Ecocardiografia , Eletrocardiografia , Feminino , Seguimentos , Humanos , Incidência , Lactente , Masculino , Ohio/epidemiologia , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida/tendênciasRESUMO
OBJECTIVE: We hypothesized that spontaneous inspiratory effort transmitted to the pleural space during airway pressure release ventilation would result in increased lung perfusion after surgery for tetralogy of Fallot or following a cavopulmonary shunt as a consequence of transient decreases in intrapleural pressure. DESIGN: Prospective crossover cohort study. SETTING: A tertiary care cardiac pediatric intensive care unit. PATIENTS: Children after tetralogy of Fallot repair, cavopulmonary shunt, or Fontan operation. INTERVENTIONS: Lung perfusion and cardiac output were measured during airway pressure release ventilation and pressure control ventilation with pressure support, both with and without spontaneous ventilation. Oxygen consumption was measured (mass spectrometer) and lung perfusion/cardiac output calculated (Fick equation). Constant levels of CO2 and mean airway pressure were targeted in all study phases. MEASUREMENTS AND MAIN RESULTS: Twenty patients were enrolled in the study, nine after repair of tetralogy of Fallot and 11 after a cavopulmonary shunt. In the absence of spontaneous ventilation, there were no differences in lung perfusion or any of the measured gas exchange or hemodynamic parameters. In the presence of spontaneous ventilation for all patients, mean pulmonary blood flow increased from 2.4 to 2.9 L·min⻹M⻲ (p = .02). Oxygen delivery increased from 594 to 774 mL/min/m² (p = .05) in the patients with tetralogy of Fallot patients and from 473 to 518 L·min⻹M⻲ (p = .07) in the cavopulmonary shunt group. CONCLUSION: Ventilation with airway pressure release ventilation (at comparable mean airway pressure) improves lung perfusion compared with pressure control ventilation in children after tetralogy of Fallot repair and cavopulmonary shunt operations. Although this study focused on tetralogy of Fallot and cavopulmonary shunt operations, the improved cardiopulmonary interactions may be beneficial in other situations in which hemodynamics are impaired by positive pressure ventilation.
Assuntos
Pressão Positiva Contínua nas Vias Aéreas , Técnica de Fontan , Derivação Cardíaca Direita , Cuidados Pós-Operatórios/métodos , Circulação Pulmonar , Tetralogia de Fallot/cirurgia , Débito Cardíaco/fisiologia , Pré-Escolar , Estudos Cross-Over , Hemodinâmica , Humanos , Lactente , Consumo de Oxigênio/fisiologia , Estudos Prospectivos , Circulação Pulmonar/fisiologiaRESUMO
OBJECTIVE: To examine early outcomes for pulmonary atresia with intact ventricular septum undergoing single-ventricle palliation and to determine risk factors for mortality. DESIGN: Retrospective observational study. SETTING: Tertiary paediatric critical care unit. INTERVENTION: Risk factors for mortality were sought for infants after the primary intervention whether surgical shunt or ductal stent. MEASUREMENTS AND MAIN RESULTS: We reviewed outcomes of 19 infants with pulmonary atresia with intact ventricular septum undergoing single-ventricle palliation between July, 2000 and July, 2008. Echocardiograms, cardiac catheterisation findings, anaesthesia, and critical care management, as well as autopsy reports were reviewed. We modelled survival after surgery and looked for predictors of early mortality. A total of 19 infants underwent single-ventricle palliation and seven of these died. The risk of death was increased by a lower arterial pH at induction of anaesthesia (p = 0.01), a lower systolic blood pressure (p = 0.01), and technical problems during surgery (p = 0.03). On admission to the critical care unit, a lower mixed venous saturation (p = 0.02) and presence of tachyarrhythmia (p = 0.02) were associated with the need for mechanical support within the first 48 hours. CONCLUSIONS: There is a high early mortality for those who undergo single-ventricle palliation. It is higher for those who are haemodynamically compromised before surgery; technical problems, and haemodynamic instability during surgery also increase mortality.
Assuntos
Anormalidades Múltiplas , Procedimentos Cirúrgicos Cardíacos/métodos , Comunicação Interventricular/cirurgia , Terapia Intensiva Neonatal/métodos , Atresia Pulmonar/cirurgia , Feminino , Seguimentos , Comunicação Interventricular/diagnóstico , Comunicação Interventricular/mortalidade , Humanos , Recém-Nascido , Masculino , Ontário/epidemiologia , Cuidados Paliativos/métodos , Atresia Pulmonar/diagnóstico , Atresia Pulmonar/mortalidade , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Fatores de Tempo , Resultado do TratamentoRESUMO
We describe an infant presenting with fetal pericardial effusion requiring in utero pericardiocentesis. Important postnatal clinical features included recurrent pericardial effusion, progressive stridor, thrombocytopenia, anemia, and a mediastinal mass surrounding the heart and coronary arteries. Investigations and management consisted of repeat pericardiocentesis, platelet and red blood cell transfusions, laryngoscopy, creation of a pericardial window, and biopsy of the mediastinal mass. Diagnosis was made of Kaposiform hemangioendothelioma surrounding the base of the heart, trachea, and esophagus as well as Kasabach-Merritt phenomenon. The infant responded well to treatment with vincristine and prednisone.
Assuntos
Hemangioendotelioma/diagnóstico , Derrame Pericárdico/etiologia , Gerenciamento Clínico , Hemangioendotelioma/complicações , Hemangioendotelioma/terapia , Humanos , Lactente , Prednisona/uso terapêutico , Vincristina/uso terapêuticoRESUMO
BACKGROUND: Significant mitral regurgitation is known to exacerbate left ventricular dysfunction in dilated cardiomyopathy. Although intervention on the regurgitant mitral valve is frequently described in adults, there is little pediatric data. METHODS: Five children (aged 3 months to 4 years) with dilated cardiomyopathy and mitral regurgitation underwent mitral valve repair between January 1999 and January 2007 at our institution. All had mitral regurgitation graded as moderate to severe, with ejection fractions of 35% to 60% (median 53%). RESULTS: There were no deaths; all children were weaned from cardiopulmonary bypass; 1 child required cardiac transplantation 3 weeks after repair. After surgery, mitral regurgitation was moderate in 1 patient, mild in 2 patients, and trivial in 2 patients. The 4 successful cases showed an improvement in functional status at latest follow-up (range, 8 years to 4 months): all were asymptomatic (4 children had preoperative symptoms). Successful cases showed a decreased left atrial dimension (mean z-score 3.8 to 2.6) and a decreased left ventricular end-diastolic diameter (mean 6.9 +/- 1.6 to 5.4 +/- 1.2). Ejection fraction and left ventricular end-systolic index did not show an improvement and declined in some cases. CONCLUSIONS: We conclude that repair of the mitral valve is feasible in children with dilated cardiomyopathy and acquired mitral regurgitation. Most of the children demonstrated decreased left ventricular chamber sizes and an improved functional status. Although this operation improves symptoms, it is not clear whether it postpones or abrogates the need for cardiac transplantation.
Assuntos
Cardiomiopatia Dilatada/cirurgia , Implante de Prótese de Valva Cardíaca , Insuficiência da Valva Mitral/cirurgia , Valva Mitral/cirurgia , Pré-Escolar , Ecocardiografia , Feminino , Seguimentos , Transplante de Coração , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/fisiopatologia , Complicações Pós-Operatórias/cirurgia , Reoperação , Estudos Retrospectivos , Volume Sistólico/fisiologia , Disfunção Ventricular Esquerda/fisiopatologia , Disfunção Ventricular Esquerda/cirurgia , Função Ventricular Esquerda/fisiologiaRESUMO
At the end of every heartbeat, cardiac myocytes must relax to allow filling of the heart. Impaired relaxation is a significant factor in heart failure, but all pathways regulating the cardiac relaxation apparatus are not known. Haploinsufficiency of the T-box transcription factor Tbx5 in mouse and man causes congenital heart defects (CHDs) as part of Holt-Oram syndrome (HOS). Here, we show that haploinsufficiency of Tbx5 in mouse results in cell-autonomous defects in ventricular relaxation. Tbx5 dosage modulates expression of the sarco(endo)plasmic reticulum Ca(2+)-ATPase isoform 2a encoded by Atp2a2 and Tbx5 haploinsufficiency in ventricular myocytes results in impaired Ca(2+) uptake dynamics and Ca(2+) transient prolongation. We also demonstrate that Tbx5 can activate the Atp2a2 promoter. Furthermore, we find that patients with HOS have significant diastolic filling abnormalities. These results reveal a direct genetic pathway that regulates cardiac diastolic function, implying that patients with structural CHDs may have clinically important underlying anomalies in heart function that merit treatment.
Assuntos
Diástole/genética , Cardiopatias Congênitas/etiologia , ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático/genética , Proteínas com Domínio T/deficiência , Proteínas com Domínio T/fisiologia , Animais , Cálcio/metabolismo , Estudos de Casos e Controles , Regulação da Expressão Gênica/fisiologia , Humanos , Camundongos , Regiões Promotoras Genéticas , Transdução de Sinais , Proteínas com Domínio T/metabolismoRESUMO
The presence of a residual systemic-to-pulmonary shunt following a bidirectional Glenn operation may be necessary in patients with an elevated pulmonary vascular resistance. It is often possible to perform percutaneous occlusion of these shunts once the resistance has fallen. We report on the use of an Amplatzer Ductal Occluder Device to occlude a residual Sano shunt in an infant with a variant of hypoplastic left heart syndrome.
Assuntos
Cateterismo Cardíaco/instrumentação , Derivação Cardíaca Direita , Síndrome do Coração Esquerdo Hipoplásico/cirurgia , Angiografia Coronária , Feminino , Humanos , Recém-Nascido , Circulação Pulmonar , Resultado do TratamentoRESUMO
BACKGROUND: Radiofrequency perforation (RF) of the right ventricular outflow tract (RVOT), while an effective management strategy in children with an intact ventricular septum, has not been fully detailed in those presenting with a ventricular septal defect. OBJECTIVE: To determine whether transcatheter perforation of the atretic pulmonary valve is an acceptable management strategy prior to surgical repair. RESULTS: Valve perforation was attempted in eight children seen between May 2000 and March 2006, five being infants between 1 and 9 days of age. In five children, this was the first of two procedures, the second a planned surgical correction. The RF was successful in six children with one child requiring additional stenting of the RVOT. Of these children, three attained a biventricular repair within the next year without additional palliative surgical procedures. Of the remaining three patients, one is awaiting surgical correction, one did not require further surgery, and one had this procedure as the only planned palliation. The two children in whom RF was not possible were referred for surgical augmentation of pulmonary blood flow. CONCLUSION: A treatment strategy that includes pulmonary valve perforation as initial palliation to increase pulmonary blood flow may be effective. Additional experience to better define those children who would benefit from this treatment algorithm is required.