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We report a rare case of hereditary hemorrhagic telangiectasia (HHT) in a 4-month-old female infant with findings of child abuse. She presented with poor feeding, vomiting, and irritability after a short fall from the bed. Initial evaluation found subdural hematomas, persistent hypoxia, failure to thrive, a frenulum tear, facial lacerations, and bruising. The patient was admitted, and an extensive workup led to the diagnosis of brain and pulmonary arteriovenous malformations and finally the diagnosis of HHT. The subdural hematomas, cutaneous injuries, and oral injury were highly suspicious for child abuse and were reported to Child Protective Services and law enforcement for investigation simultaneous to the medical work-up. Her hospital course was complicated by progressive hypoxemia with radiographic evidence of several large pulmonary arteriovenous malformations, for which she underwent successful embolization. Her head injury was indeterminate for physical abuse in the setting of a medical condition predisposing to intracranial hemorrhage. A few weeks later, she was readmitted with repeat abusive injuries in the form of femur fractures. This case demonstrates the unique diagnostic dilemma when 2 diagnoses are occurring simultaneously-HHT and child abuse-and showcases the importance of a detailed family history, genetic testing, strong multidisciplinary collaboration with a holistic approach and medically informed Child Protective Services systems to ensure accurate diagnoses and safe disposition.
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BACKGROUND: Heart transplantation (HT) is the gold standard for managing end-stage heart failure. Multiple quality metrics, including length of stay (LOS), have been used in solid organ transplantation. However, limited data are available regarding trends and factors influencing LOS after pediatric HT. We hypothesized that various donor, peri-transplant and recipient factors affect LOS after pediatric HT. METHODS: We analyzed patients <18years at time of HT from January 2005 to December 2018 in the Pediatric Heart Transplant Society database, and examined LOS trends, defined prolonged LOS (PLOSâ¯=â¯LOS>30days after HT), identified factors associated with PLOS and assessed outcomes. RESULTS: Of 4827 patients undergoing HT, 4414 patients were discharged and included for analysis. Overall median LOS was 19days[13,34]. Median LOS was longer in patients with congenital heart disease(CHDâ¯=â¯25days[15,43] than with cardiomyopathy(CMâ¯=â¯17days[12,27] across all ages. Median LOS in age <1year was 26-days[16,45.5] and in age >10year was 16days[11,26]. PLOS was seen in 1313 patients(30%). Patients with PLOS were younger, smaller and had longer CPB times. There was no difference in utilization of VAD at HT between groups, however, ECMO use at listing(8.45% vs 2.93%,p < 0.05) and HT was higher in the PLOS group(9.22% vs 1.58%,p < 0.05). PLOS was more common in patients with previous surgery, CHD, single ventricle physiology, recipient history of cardiac arrest or CPR, end organ dysfunction, lower GFR, use of mechanical ventilation at HT and Status 1A at HT. CONCLUSION: We present novel findings of LOS distribution and define PLOS after pediatric HT, providing a quality metric for individual programs to utilize and study in their practice.
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Transplante de Coração , Criança , Hospitais , Humanos , Tempo de Internação , Modelos Logísticos , Aprendizado de Máquina , Estudos RetrospectivosRESUMO
Granulomatosis with polyangiitis (GPA) is characterized by necrotizing vasculitis of small and medium sized vessels and is rarely present in the pediatric population. Cardiac manifestations in pediatric patients with GPA are extremely uncommon, with only two known reported cases associated with coronary artery aneurysms (Rehani and Nelson in Pediatrics 147:e20200932, 2021, https://doi.org/10.1542/peds.2020-0932 ;Aghaei Moghadam et al. in Case Rep Cardiol 2020:3417910, 2020, https://doi.org/10.1155/2020/3417910 ). We report a case of a 14-year-old male who presented with a 1 month history of fatigue and shortness of breath. He ultimately was found to have multiple giant coronary aneurysms in both the left and right coronaries including a giant aneurysm in the posterior descending; this has not been previously reported. The case highlights the need for complete multi-modality imaging of the coronary arteries in patients with GPA.
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Aneurisma Coronário , Granulomatose com Poliangiite , Adolescente , Criança , Aneurisma Coronário/diagnóstico por imagem , Aneurisma Coronário/etiologia , Vasos Coronários/diagnóstico por imagem , Granulomatose com Poliangiite/complicações , Granulomatose com Poliangiite/diagnóstico , Humanos , MasculinoRESUMO
The 22q11.2 deletion syndrome (22q11.2 DS) is the most common deletion syndrome in humans. In most cases, it occurs de novo. A rare family of three with 22q11.2 deletion syndrome (22q11.2 DS) resulting from an unbalanced 18q;22q translocation is reported here. Their deletion region is atypical in that it includes only 26 of the 36 genes in the minimal critical 22q11.2 DS region but it involves the loss of the centromeric 22q region and the entire p arm. The deletion region overlaps with seven other rare atypical cases; common to all cases was the loss of a region including SEPT5-GP1BB proximally and most of ARVCF distally. Interrogation of the deleted 22q region proximal to the canonical 22q11.2 deletion region in the DECIPHER database showed seven cases with isolated or combined traits of 22q11.2 DS, including three with clefts. The phenotypes in the present family thus may result from the loss of a subset of genes in the critical region, or alternatively the loss of other genes or sequences in the proximal 22q deletion region, or interactive effects among these. Despite the identical deletion locus in the three affected family members, expression of the 22q11.2 DS traits differed substantially among them. These three related cases thus contribute to knowledge of 22q11.2 DS in that their unusual deletion locus co-occurred with the cardinal features of the syndrome while their identical deletions are associated with variable phenotypic expression.
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Proteínas de Ciclo Celular/genética , Síndrome de DiGeorge/genética , Complexo Glicoproteico GPIb-IX de Plaquetas/genética , Septinas/genética , Translocação Genética/genética , Adolescente , Adulto , Criança , Deleção Cromossômica , Cromossomos Humanos Par 18/genética , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/patologia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Fenótipo , Adulto JovemRESUMO
A 10-year-old girl with pulmonary atresia status post transannular patch repair and secundum atrial septal defect (ASD) underwent percutaneous ASD closure 5 years earlier. There was improvement in arterial saturation from 86% to 98% with minimal residual right-to-left shunt. Despite subsequent medical therapy, she developed recurrent migraines, which led us to pursue percutaneous closure of the shunt.
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Comunicação Interatrial , Transtornos de Enxaqueca , Dispositivo para Oclusão Septal , Cateterismo Cardíaco , Criança , Feminino , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/cirurgia , Humanos , Transtornos de Enxaqueca/etiologia , Atresia Pulmonar/diagnóstico , Atresia Pulmonar/cirurgia , Dispositivo para Oclusão Septal/efeitos adversos , Resultado do TratamentoRESUMO
Pediatric heart transplant patients face the highest waitlist mortality in solid organ transplantation. Given the relatively fixed number of donor organs becoming available each year, improving donor organ utilization could potentially have significant impact on reducing waitlist mortality. Donor to recipient weight ratio has historically been used to identify suitable donors; however, this method does not take into account the potential for significant variance in heart size due to complex congenital heart disease or underlying cardiomyopathy. We believe, based on our experience to date, that donor matching based upon weight ratios should be augmented by improved methodologies that provide a more accurate assessment of heart volumes. Herein we describe the rationale for these methodologies and our single-center experience using volumetrics as an alternative for donor fit assessments.
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Transplante de Coração , Obtenção de Tecidos e Órgãos , Criança , Humanos , Doadores de Tecidos , Listas de EsperaRESUMO
BACKGROUND: Patients with heterotaxy, single ventricle and interrupted inferior vena cava are at risk of developing significant pulmonary arteriovenous malformations and cyanosis, and inequitable distribution of hepatic factor has been implicated in their development. We describe our experience with a technique for hepatic vein incorporation that reliably provides resolution of cyanosis and presumably equitable hepatic factor distribution. METHODS: A retrospective review of a single-surgeon experience was conducted for patients who underwent this modified Fontan operation utilizing an extracardiac conduit from the hepatic veins to the dominant superior cavopulmonary connection. Preoperative characteristics and imaging, operative details, and postoperative course and imaging were abstracted. RESULTS: Median age at operation was 5 years (2-10 years) and median weight was 19.6 kg (11.8-23 kg). Sixty percent (3/5) of patients had Fontan completion without cardiopulmonary bypass, and follow-up was complete at a median of 14 months (range 1-20 months). Systemic saturations increased significantly from 81% ± 1.9% preoperatively to 95% ± 3.5% postoperatively, P = .0008. Median length of stay was 10 days (range: 7-14 days). No deaths occurred. One patient required reoperation for bleeding and one was readmitted for pleural effusion. Postoperative imaging suggested distribution of hepatic factor to all lung segments with improved pulmonary arteriovenous malformation burden. CONCLUSIONS: Hepatic vein incorporation for patients with heterotaxy and interrupted inferior vena cava should optimally provide equitable pulmonary distribution of hepatic factor with resolution of cyanosis. The described technique is performed through a conventional approach, is facile, and improves cyanosis in these complex patients.
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Anormalidades Múltiplas , Malformações Arteriovenosas/cirurgia , Veia Ázigos/cirurgia , Técnica de Fontan/métodos , Veias Hepáticas/cirurgia , Síndrome de Heterotaxia/cirurgia , Veia Cava Inferior/cirurgia , Veia Ázigos/anormalidades , Criança , Pré-Escolar , Feminino , Veias Hepáticas/anormalidades , Humanos , Masculino , Estudos Retrospectivos , Veia Cava Inferior/anormalidadesRESUMO
BACKGROUND: Listed pediatric heart transplant patients have the highest solid-organ waitlist mortality rate. The donor-recipient body weight (DRBW) ratio is the clinical standard for allograft size matching but may unnecessarily limit a patient's donor pool. To overcome DRBW ratio limitations, two methods of performing virtual heart transplant fit assessments were developed that account for patient-specific nuances. Method 1 uses an allograft total cardiac volume (TCV) prediction model informed by patient data wherein a matched allograft 3-D reconstruction is selected from a virtual library for assessment. Method 2 uses donor images for a direct virtual transplant assessment. METHODS: Assessments were performed in medical image reconstruction software. The allograft model was developed using allometric/isometric scaling assumptions and cross-validation. RESULTS: The final predictive model included gender, height, and weight. The 25th-, 50th-, and 75th-percentiles for TCV percentage errors were -13% (over-prediction), -1%, and 8% (under-prediction), respectively. Two examples illustrating the potential of virtual assessments are presented. CONCLUSION: Transplant centers can apply these methods to perform their virtual assessments using existing technology. These techniques have potential to improve organ allocation. With additional experience and refinement, virtual transplants may become standard of care for determining suitability of donor organ size for an identified recipient.
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Transplante de Coração/métodos , Coração/anatomia & histologia , Tamanho do Órgão , Obtenção de Tecidos e Órgãos/métodos , Adolescente , Adulto , Aloenxertos , Volume Cardíaco , Criança , Pré-Escolar , Diagnóstico por Imagem , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional , Lactente , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Doadores de Tecidos , Tomografia Computadorizada por Raios X , Listas de Espera , Adulto JovemRESUMO
BACKGROUND: 3D printing is an ideal manufacturing process for creating patient-matched models (anatomical models) for surgical and interventional planning. Cardiac anatomical models have been described in numerous case studies and journal publications. However, few studies attempt to describe wider impact of the novel planning augmentation tool. The work here presents the evolution of an institution's first 3 full years of 3D prints following consistent integration of the technology into clinical workflow (2012-2014) - a center which produced 79 models for surgical planning (within that time frame). Patient outcomes and technology acceptance following implementation of 3D printing were reviewed. METHODS: A retrospective analysis was designed to investigate the anatomical model's impact on time-based surgical metrics. A contemporaneous cohort of standard-of-care pre-procedural planning (no anatomical models) was identified for comparative analysis. A post-surgery technology acceptance assessment was also employed in a smaller subset to measure perceived efficacy of the anatomical models. The data was examined. RESULTS: Within the timeframe of the study, 928 primary-case cardiothoracic surgeries (encompassing both CHD and non-CHD surgeries) took place at the practicing pediatric hospital. One hundred sixty four anatomical models had been generated for various purposes. An inclusion criterion based on lesion type limited those with anatomic models to 33; there were 113 cases matching the same criterion that received no anatomical model. Time-based metrics such as case length-of-time showed a mean reduction in overall time for anatomical models. These reductions were not statistically significant. The technology acceptance survey did demonstrate strong perceived efficacy. Anecdotal vignettes further support the technology acceptance. DISCUSSION & CONCLUSION: The anatomical models demonstrate trends for reduced operating room and case length of time when compared with similar surgeries in the same time-period; in turn, these reductions could have significant impact on patient outcomes and operating room economics. While analysis did not yield robust statistical powering, strong Cohen's d values suggest poor powering may be more related to sample size than non-ideal outcomes. The utility of planning with an anatomical model is further supported by the technology acceptance study which demonstrated that surgeons perceive the anatomical models to be an effective tool in surgical planning for a complex CHD repair. A prospective multi-center trial is currently in progress to further validate or reject these findings.
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PURPOSE OF REVIEW: Advances in medical imaging and three-dimensional (3D) reconstruction software have enabled a proliferation of 3D modeling and 3D printing for clinical applications. In particular, 3D printing has garnered an extraordinary media presence over the past few years. There is growing optimism that 3D printing can address patient specificity and complexity for improved interventional and surgical planning. Will this relatively untested technology bring about a paradigm shift in the clinical environment, or is it just a transient fad? RECENT FINDINGS: Case studies and series centered around 3D printing are omnipresent in clinical and engineering journals. These primarily qualitative studies support the potential efficacy of the emerging technology. Few studies analyze the value of 3D printing, weighing its potential benefits against increasing costs (e.g., institutional overhead, labor, and materials). SUMMARY: Clinical integration of 3D printing is growing rapidly, and its adoption into clinical practice presents unique workflow challenges. There are numerous clinical trials on the horizon that will finally help to elucidate the measured impact of 3D printing on clinical outcomes through quantitative analyses of clinical and economic metrics. The contrived integration of 3D printing into clinical practice seems all but certain as the value of this technology becomes more and more evident.
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Imageamento Tridimensional , Impressão Tridimensional , Humanos , Impressão Tridimensional/tendênciasRESUMO
As technology and interventional techniques continue to evolve, both the volume and complexity of cardiac catheterizations will increase, leading to a rise in the number of complications. One of the most morbid complications of cardiac catheterization is vascular injury. We report the case of a 31-day-old, 3.0-kg infant with hypoplastic left heart syndrome who experienced a left common iliac artery disruption during cardiac catheterization resulting in a retroperitoneal hemorrhage. The extent of the vascular injury combined with the vessel caliber posed a technically challenging surgical scenario. Ultimately, the vascular supply to the left lower extremity was reconstructed by the plastic surgery team with a reverse autologous vein graft. To our knowledge, this multidisciplinary approach with the involvement of plastic surgery represents a unique case.
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Neonatal critical aortic stenosis is life threatening and requires intervention shortly after birth. Early percutaneous aortic valvuloplasty is generally considered to be an effective way to obtain reliable prograde flow. We describe the integrated use of hybrid, open surgical, and single ventricle rehabilitation techniques to successfully treat a neonate with borderline left-sided cardiac structures, who sustained a complication from balloon aortic valvuloplasty.
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Estenose da Valva Aórtica/cirurgia , Valvuloplastia com Balão/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/métodos , Valva Mitral/lesões , Humanos , Doença Iatrogênica , Recém-Nascido , Masculino , Valva Mitral/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: Post-Fontan protein-losing enteropathy (PLE) is associated with significant morbidity and mortality. Although heart transplantation (HTx) can be curative, PLE may increase the risk of morbidity before and after HTx. This study analyzed the influence of PLE influence on waiting list and post-HTx outcomes in a pediatric cohort. METHODS: Fontan patients listed for HTx and enrolled in the Pediatric Heart Transplant Study from 1999 to 2012 were stratified by a diagnosis of PLE, and the association of PLE with waiting list and post-HTx mortality, rejection, and infection was analyzed. RESULTS: Compared with non-PLE Fontan patients (n = 260), PLE patients listed for HTx (n = 96) were older (11.9 years vs 7.6 years; p = 0.003), had a larger body surface area (1.1 m(2) vs 0.9 m(2); p = 0.0001), had lower serum bilirubin (0.5 vs 0.9 mg/dl; p = 0.01), lower B-type natriuretic peptide (59 vs 227 pg/ml; p = 0.006), and were less likely to be on a ventilator (3% vs 13%; p = 0.006). PLE patients had lower waiting list mortality than non-PLE Fontan patients (p < 0.0001). There were no intergroup differences for post-HTx survival or times to the first infection or rejection. PLE was not independently associated with increased post-HTx mortality at any time point. CONCLUSIONS: In this multicenter cohort, the diagnosis of PLE alone was not associated with increased waiting list mortality or post-HTx morbidity or mortality. Given the limitations of our data, this analysis suggests that PLE patients in the pediatric age group have outcomes similar to their non-PLE counterparts. Additional multicenter studies of PLE patients with targeted collection of PLE-specific information will be necessary to fully delineate the risks conferred by PLE for HTx.
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Técnica de Fontan/efeitos adversos , Transplante de Coração , Enteropatias Perdedoras de Proteínas/etiologia , Fatores Etários , Bilirrubina/sangue , Superfície Corporal , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Rejeição de Enxerto , Transplante de Coração/mortalidade , Humanos , Masculino , Peptídeo Natriurético Encefálico/sangue , Complicações Pós-Operatórias , Resultado do Tratamento , Ventiladores MecânicosRESUMO
Acute myocardial failure associated with myocarditis is highly lethal. Left ventricular assist device support for these patients has been advocated to decompress the left ventricle and facilitate myocardial remodeling and recovery. Concerns exist regarding the ability of venoarterial (VA) extracorporeal life support (ECLS) to decompress the left ventricle and allow effective myocardial recovery. ECLS has several advantages, including availability, rapid deployment, and flexibility, as compared with contemporary ventricular assist devices. The objective of this study was to provide a brief review of acute myocarditis and present our series of patients. After Institutional Review Board approval, we conducted a retrospective data analysis of patients on ECLS experiencing rapidly progressive myocardial failure from a normal baseline. Patients with a history of intrinsic heart disease were excluded. All patients were thought to have myocarditis and had failed medical therapy requiring emergent ECLS support. Five patients demographics are detailed in Table 1. Patients experienced life-threatening intractable dysrhythmias or cardiac arrest and were refractory to medical therapy with severe acidosis and impending multisystem organ failure. All patients were stabilized with VA ECLS, and the left ventricle and atrium were decompressed in four of five patients. A left atrial vent was placed in one patient. Myocardial recovery with successful weaning from ECLS was obtained in four of five patients and to a normal ejection fraction in three of the five. One patient failed ECLS weaning and required biventricular VAD support secondary to severe myocardial necrosis from giant cell myocarditis and was transplanted, one died, all others are alive at follow-up. ECLS is safe and effective to treat acute myocardial failure and may be used to obtain myocardial recovery in certain subsets. We devised a decision algorithm for ECLS deployment in this patient cohort and routinely use ECLS.
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Circulação Extracorpórea , Miocardite/cirurgia , Doença Aguda , Adulto , Algoritmos , Pré-Escolar , Feminino , Insuficiência Cardíaca/cirurgia , Coração Auxiliar , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Anomalous origin of one pulmonary artery from the aorta, or hemitruncus, is a rare cardiac malformation. We report a case of left hemitruncus (aortic origin of the left pulmonary artery) associated with tetralogy of Fallot diagnosed in utero. To the authors' knowledge, this is the first such case diagnosed by fetal echocardiography to be described in the literature. The condition was documented by postnatal echocardiogram and cardiac computed tomography. Prompt recognition of this lesion is essential for early repair to improve outcome.
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Aorta Torácica/anormalidades , Ecocardiografia , Processamento de Imagem Assistida por Computador , Imageamento Tridimensional , Artéria Pulmonar/anormalidades , Tetralogia de Fallot/diagnóstico , Tomografia Computadorizada Espiral , Ultrassonografia Pré-Natal , Aorta Torácica/cirurgia , Técnicas de Imagem de Sincronização Cardíaca , Feminino , Humanos , Recém-Nascido , Gravidez , Segundo Trimestre da Gravidez , Artéria Pulmonar/cirurgia , Tetralogia de Fallot/cirurgiaRESUMO
Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic cardiomyopathy in children and young adults. Despite advances in understanding the molecular etiology of this disorder, the clinical phenotypes vary widely from asymptomatic septal hypertrophy, to frank congestive heart failure due to left ventricular outflow tract obstruction (LVOTO), to unexpected sudden cardiac death. Thus, isolating a specific genetic defect in this disease does little to predict the clinical consequence. This is best seen in large families with several people affected by HCM who all have the identical mutation but who may have very different clinical phenotypes. Evaluating individuals with HCM consists of establishing the diagnosis through cardiac imaging, noninvasively assessing the risk for sudden death, and medically or surgically treating symptomatic LVOTO when it is present.
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Pediatric heart transplant recipients have been shown to have reduced exercise performance. Studies of adult heart transplant recipients demonstrate improved endurance from regular aerobic exercise; however, this strategy has not been studied in children. We hypothesized that regular aerobic/strength training would improve exercise performance in children post-heart transplant. After an initial training session, an exercise protocol was performed at home for 12 wk, three days/wk. Aerobic exercise consisted of either running or use of an exercise bicycle to an established target HR for >or=20 min of a 30-min session for three days/wk. Subjects wore a HR monitor and kept a diary to monitor compliance. Two days/wk, strength training was performed with elastic bands to specifically exercise biceps and triceps groups for 15-20 min/session. Aerobic exercise capacity was assessed at baseline and post-training using the standard Bruce treadmill protocol. Strength was measured at baseline and post-intervention by dynamometer. Exercise and strength parameters at baseline and post-intervention were compared using paired student t-tests. Eleven subjects completed the 12-wk program, eight females and three males. The mean age at enrollment was 14.7 +/- 5.3 yr (8-25) and mean time from transplant was 5.26 +/- 5.34 yr (0.58-14.71). Endurance time and peak oxygen consumption improved significantly post-exercise; there was no difference in peak HR or systolic blood pressure. Strength improved in the triceps, quadriceps, and biceps groups. After a 12-wk in home exercise intervention, pediatric heart recipients had improved exercise endurance and strength. The protocol was safe and implemented at relatively low cost. Further study is warranted to determine if the intervention can be extended to more children and whether benefits after such a short-term intervention can be sustained.
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Exercício Físico , Transplante de Coração/métodos , Esforço Físico/fisiologia , Adolescente , Adulto , Criança , Teste de Esforço , Feminino , Insuficiência Cardíaca/terapia , Frequência Cardíaca , Humanos , Masculino , Consumo de Oxigênio , Qualidade de Vida , Fatores de RiscoRESUMO
Nephrotoxicity is an adverse effect of cyclosporine and tacrolimus. Studies comparing their long-term nephrotoxicities are lacking. This study evaluates the nephrotoxicity of these agents over a 7-year period following heart transplantation. Pediatric heart-transplant recipients receiving cyclosporine or tacrolimus as primary immunosuppression were evaluated at two centers from 1982 to 1998. Data collected included serum creatinine, height and weight prior to transplantation, at 1 and 6 months and 1 years post transplantation, and at yearly intervals thereafter. Creatinine clearance was calculated and compared between the two groups. Glomerular filtration rate was measured using Tc-99m diethylenetriaminepentacetic acid. In total, 123 patients were evaluated. Demographic data of the two groups were comparable. Creatinine clearance demonstrated a steady decline. This decline did not differ statistically between the two groups: tacrolimus 98.9 and 90.7mL/min/1.73 m2 at 1 month and 5 years, respectively; cyclosporine 110.7 and 81.7 mL/min/ 1.73 m2 at 1 month and 5 years, respectively. Four patients developed end-stage renal failure. Calculated creatinine clearance consistently overestimated glomerular filtration rate, the latter being greater than 2 standard deviations below the mean normal in 38% of patients. We conclude that the nephrotoxicities of tacrolimus and cyclosporine are comparable over the medium- to long-term in pediatric heart-transplant recipients.