Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.

Most children do not have a known cause of cardiomyopathy which limits the potential for disease-specific therapies. Of the different phenotypic presentations of cardiomyopathy, the restrictive form carries the poorest prognosis and has the lowest rate of identification of etiology. We present the first description of a beta-myosin heavy chain gene mutation in an infant with restrictive cardiomyopathy requiring cardiac transplantation. As demonstrated by three-dimensional protein structure modeling, the missense mutation is in a highly conserved amino acid at the critical binding region for the essential light chain. This case emphasizes that mutations in sarcomeric proteins, which are known to cause hypertrophic cardiomyopathy in adults, may be associated with the development of restrictive physiology in childhood. Identification of the genetic basis of pediatric cardiomyopathy has important implications for management and genetic counseling.

Therapeutic cardiac catheterization for congenital heart disease--a new era in pediatric care.

In recent years, enormous technological advances have occurred that allow intervention for many congenital heart defects in the pediatric cardiac catheterization laboratory. Therapeutic catheterization procedures, including valvuloplasty, angioplasty, stent implantation, coil embolization, and device occlusion, are employed to treat heart defects in infants and children. This report describes these interventional procedures, outcomes, potential complications, and implications for nursing care.

Effect of accessory pulmonary blood flow on survival after the bidirectional Glenn procedure.

BACKGROUND: The bidirectional Glenn procedure (BDG) is used in the staged surgical management of patients with a functional single ventricle. Controversy exists regarding whether accessory pulmonary blood flow (APBF) should be left at the time of BDG to augment systemic saturation or be eliminated to reduce volume load of the ventricle. The present study was a retrospective review of patients undergoing BDG that was conducted to assess the influence of APBF on survival rates. METHODS AND RESULTS: From 1986 through 1998, 149 patients have undergone BDG at our institution. Ninety-three patients had elimination of all sources of APBF, whereas 56 patients had either a shunt or a patent right ventricular outflow tract intentionally left in place to augment the pulmonary blood flow provided by the BDG. The operative mortality rate was 2.2% without APBF and 5.4% with APBF. The late mortality rate was 4.4% without APBF and 15.1% with APBF. Actuarial analysis demonstrates a divergence of the Kaplan-Meier curves in favor of patients in whom APBF was eliminated (P<0.02). One hundred seven patients have subsequently undergone completion of their Fontan operation, so the actuarial analysis includes the operative risk of this second operation. CONCLUSIONS: The results suggest that the elimination of APBF at the time of BDG may confer a long-term advantage for patients with a functional single ventricle.

Neurodevelopmental outcomes in children with Fontan repair of functional single ventricle.

OBJECTIVES: The purpose of this study was to assess the neurodevelopmental status of children after Fontan repair of functional single ventricle and to examine the relationship between cognitive function and selected patient characteristics. STUDY DESIGN: Neurodevelopmental tests including the Stanford-Binet Intelligence (IQ) scale and the Developmental Test of Visual Motor Integration (VMI) were administered to 32 children (26 months to 16 years of age) with complex single ventricle. The mean and distribution of IQ and VMI scores were compared with population norms. The relationship between test scores and patient characteristics was examined utilizing analysis of variance and correlational methods. RESULTS: The majority of children had intellectual function within the normal range (mean, 97.5 +/- 12.1). Below average VMI scores were found in 21.4% of children. There were no significant correlations between intellectual function or visual motor integration ability and preoperative oxygen saturation or age at Fontan. Children who had deep hypothermic circulatory arrest during a prior Norwood procedure tended to have a lower IQ score. CONCLUSIONS: Intellectual development in children with Fontan repair of complex heart defects is essentially within the normal range. Visual motor integration deficits may be more prevalent in these children. In our population, the duration and degree of preoperative hypoxemia had no apparent effect on cognitive function.

Changing practice patterns for children with heart disease: a clinical pathway approach.

BACKGROUND: Pediatric cardiac care is costly and requires extensive resources. We studied the effect of clinical pathways on practice patterns and patient care outcomes in infants and children hospitalized for cardiac surgery. METHODS: In consecutive patients admitted for selected cardiac surgical procedures before (n = 69) and after (n = 173) implementation of clinical pathways, outcomes including hospital length of stay, days in the ICU, time to extubation, ordering of blood studies, costs, and readmissions were compared. Data were analyzed for each of five cardiac surgical procedures: repair of an atrial septal defect, repair of a ventricular septal defect, division of a patent ductus arteriosus, repair of tetralogy of Fallot, and neonatal arterial switch operation to correct transposition of the great arteries. RESULTS: A significant reduction in length of hospital stay, including days in the ICU (decreased 1 to 2 days per admission), was achieved after the clinical pathway was implemented. Reductions in average duration of mechanical ventilation ranged from 28% for repair of a ventricular septal defect to 63% for repair of tetralogy of Fallot. The number of blood studies ordered decreased 20% to 30%. A significant reduction in hospital costs for each procedure, ranging from 16% to 29%, was also achieved with no adverse effects on patients' outcomes. CONCLUSIONS: Use of clinical pathways with children hospitalized for cardiac surgery can shorten length of stay in the hospital, reduce use of resources, and improve cost-effectiveness with beneficial outcomes for patients.

Aortopulmonary collateral vessels and prolonged pleural effusions after modified Fontan procedures.

Pleural effusions after the modified Fontan procedure are unpredictable, increase morbidity, and prolong hospital stay. To assess the relation between preoperative characteristics and postoperative pleural drainage, we performed a retrospective study of 71 patients who underwent Fontan procedures. Analyses revealed no significant relation between duration of effusion and age at Fontan, preoperative oxygen saturation, pulmonary artery pressure, ventricular end-diastolic pressure, type of Fontan, or prior cavopulmonary anastomosis. Patients with significant aortopulmonary collateral vessels evidenced by angiographic opacification of the pulmonary arteries or veins had more prolonged pleural drainage. The duration of the pleural drainage was significantly less in patients who had aortopulmonary collateral occlusion.

Factors influencing perioperative morbidity during palliation of the univentricular heart.

BACKGROUND: The modified Fontan procedure has become the treatment of choice for patients born with a univentricular heart. Although the operative mortality has steadily decreased in recent years, the hospital stay is still prolonged in many patients due to fluid retention and pleural effusions. METHODS: We retrospectively analyzed subsets of patients undergoing the bidirectional cavopulmonary shunt (BDCPS) and modified Fontan procedure in an attempt to define factors influencing operative mortality and morbidity. RESULTS: Multivariate analysis of 64 patients undergoing BDCPS revealed that age 6 months or less, concomitant operation, mean pulmonary pressure of 15 mm Hg or less, and mean pulmonary artery ratio of 1.8:1 or less were not statistically significant indicators of risk. Abnormal pulmonary artery architecture was a significant predictor of early and late death (p < or = 0.01). Retrospective analysis of 71 patients undergoing the modified Fontan procedure revealed no significant relationship between duration of pleural effusions and age at operation, preoperative oxygen saturation, pulmonary artery pressure, ventricular end-diastolic pressure, or prior BDCPS: Patients with important aortopulmonary collateral vessels defined by angiography had prolonged pleural drainage. Selective use of the total extracardiac conduit and the fenestrated Fontan resulted in low overall mortality with no statistical differences between subsets of patients undergoing different modifications of the Fontan procedure. CONCLUSIONS: These data indicate that the operative risk for BDCPS or modified Fontan procedure is quite low if a procedure appropriate for the patient is selected. Abnormal pulmonary artery architecture is an important risk factor for death after the BDCPS: Aortopulmonary collateral vessels are associated with fluid retention and pleural effusions after a modified Fontan procedure. Important aortopulmonary collateral vessels should be occluded before or during the modified Fontan procedure.

Percutaneous use of stents to correct pulmonary artery stenosis in young children after cavopulmonary anastomosis.

Pulmonary artery distortion is a risk factor among candidates for the Fontan procedure. In 57 patients evaluated by catheterization after successful cavopulmonary anastomosis, 8 had proximal left pulmonary artery (LPA) stenosis, either discrete (4 patients) or long segment (4 patients). Median age was 27 months (range 19 to 60 months). Median weight was 11.4 kg (range 9.1 to 20.0). Mean diameter at LPA stenosis was 4.4 +/- 0.4. Proximal right pulmonary artery mean diameter was 10.4 +/- 1.0 mm. After angiographic and hemodynamic assessment, short 11F sheaths were placed in the right internal jugular (6 patients) or subclavian veins (2 patients). Pulmonary artery angioplasty and stent placement were performed. LPA stenoses were enlarged using 10 Palmaz stents dilated to 10 mm (7 patients) or to 12 mm (3 patients). Poststent angiograms showed that narrowest LPA dimensions were significantly enlarged to 9.9 mm +/- 1.0 mm, p < 001). There were no complications. Follow-up studies (catheterizations in 4 patients, echocardiograms in 8 patients) were performed 4 to 9 months after stent implantation. No restenosis was observed. Five patients had completion of their Fontan procedures; three patients are pending Fontan completion. This study demonstrates the efficacy and safety of the percutaneous use of Palmaz stents to correct pulmonary artery stenosis in young children after cavopulmonary anastomosis.

Bidirectional Glenn. Is accessory pulmonary blood flow good or bad?

BACKGROUND: The bidirectional Glenn (BDG) is frequently used in the staged surgical management of single ventricle patients. Controversy exists whether accessory pulmonary blood flow (APBF) sources should be left at the time of the BDG to augment systemic saturation or should be eliminated to reduce volume load of the ventricle. The present study was a retrospective review to assess the influence of APBF on outcome after the BDG. METHODS AND RESULTS: Ninety-two patients have undergone BDG at our institute during the interval from 1986 through 1994. At the time of BDG, 40 patients had either a systemic-to-pulmonary artery shunt or patent right ventricular outflow tract as an additional source of pulmonary blood flow. Fifty-two patients had elimination of APBF. There were three operative deaths (two with and one without APBF) and four procedures (two in each group) that failed and required subsequent revision. Thus, there were 85 patients who underwent successful operation. Effusions (defined as chest tube drainage exceeding 7 days' duration) occurred in 8 of 85 patients; this complication was seen in 7 of 36 patients (19%) with APBF and 1 of 49 patients (2%) without APBF (P < .05). There were 11 deaths, including 6 patients (17%) with APBF, 2 patients (4%) without APBF, and 3 of the patients (75%) who had a failed BDG. CONCLUSIONS: The data suggest that morbidity and mortality are lower in patients in whom APBF is eliminated at the time of the BDG.

Percutaneous closure of the small patent ductus arteriosus using occluding spring coils.

OBJECTIVES: This report summarizes our experience with the use of occluding spring coils to close the small patent ductus arteriosus. BACKGROUND: Several patent ductus arteriosus occluders (most notably the Rashkind device) have been developed and studied. Occluding spring coils have been used to close abnormal vessels and vascular connections. We previously reported the use of occluding spring coils to close the small patent ductus arteriosus in a small group of patients. This report describes our series of patients having patent ductus arteriosus closure with occluding spring coils. METHODS: Between June 1990 and June 1993, 30 patients underwent cardiac catheterization to have patent ductus arteriosus closure by occluding spring coils. Selection criteria were age > 6 months and narrowest patent ductus arteriosus internal dimension < or = 3.0 mm by color flow imaging. Definitive selection was based on review of aortograms performed at catheterization. A 5.2F coronary catheter was used to deliver one or two standard occluding spring coils. A loop was delivered in the main pulmonary artery, and the remainder of the coil was delivered across the patent ductus arteriosus and into the aortic diverticulum. Patent ductus arteriosus closure was confirmed by aortography or color flow imaging, or both. Follow-up after coil placement occurred at 6 weeks and 6 months and included two-view chest radiography, echocardiography and color flow imaging. RESULTS: Of the 30 patients, 29 had successful implantation by one (27 patients) or two (2 patients) occluding spring coils. Of these 29 patients, 19 had a clinically apparent and 10 had a silent patent ductus arteriosus. Average ductus minimal internal dimension was 1.7 mm (range 1.0 to 3.0). Complete closure of the ductus was confirmed in 27 patients by aortography or color flow imaging or both (in 24 within 4 h, in 2 after 6 weeks and in 1 after 6 months). Six weeks after implantation, two patients had a tiny residual patent ductus arteriosus noted on color flow imaging. One patient did not have successful implantation. This patient had a 3.2-mm ductus, and two coils migrated to the distal left pulmonary artery and could not be retrieved. There were no deaths or any significant complications noted during early or late follow-up in these patients. CONCLUSIONS: Occluding spring coils may have additional application in closing the small patent ductus arteriosus.

The pediatric nurse practitioner as case manager in the delivery of services to children with heart disease.

Today's health care environment prompted implementation of a case management model by pediatric nurse practitioner clinical nurse specialists to promote the organization of resources for optimal care of children with heart disease. Evaluation of this pilot program suggests that achievement of expected outcomes within an appropriate length of stay was facilitated, that parents were ready for discharge, and that readmissions were infrequent. In addition, patient and system variances resulting in delay of discharge and discharge preparation needs were identified. The pediatric nurse practitioner as case manager may have a significant impact on the quality and cost of care for hospitalized children.

The psychosocial impact of pediatric heart transplantation.

Children with terminal heart disease experience a dramatic improvement in functional status after heart transplantation but may be at increased risk for problems in psychosocial adaptation. Selected psychosocial outcomes were assessed in 49 pediatric heart transplant recipients and their families from five heart transplantation centers. Heart transplant recipients did not appear significantly different from their peers on self-report measures of self-concept and anxiety, but they showed significantly less social competence and more behavior problems than a normative population. Behavior problems observed were most frequently suggestive of depression and were significantly associated with greater family stress and diminished family resources for managing stress. The study findings further suggest that the heart transplant recipients' ability to verbalize or ventilate their feelings and concerns to others seems to facilitate psychosocial adaptation. Assessment of stress, resources, and coping is imperative to enable health professionals to promote the psychosocial adaptation of pediatric heart transplant recipients and their families.

Caring for families of pediatric transplant recipients: psychosocial implications.

Organ transplantation is allowing the hope for survival and an improved quality of life to become a reality for many children with end-stage diseases. Most pediatric transplant recipients are active and able to participate in age-appropriate activities. Despite dramatic symptomatic improvements, however, children and families continue to face major psychosocial stresses. Family stresses are related to the uncertainty of the child's future health and well-being, role strain, social isolation, and financial burdens. Pediatric transplant recipients may have difficulties with psychosocial adjustment, especially related to dissatisfaction with the cosmetic side effects of immunosuppressive therapy and a lack of socialization skills or social competence. Psychosocial stresses faced by children following transplant may result in behavior problems, depression, poorer social adaptation, or noncompliance. The psychosocial adaptation of pediatric transplant recipients can be promoted through support and counseling from health professionals caring for these families. More research is needed to evaluate the psychosocial implications of pediatric organ transplantation and identify effective methods of providing psychological support and promoting adaptation in these children.

Counseling adolescents with congenital heart disease.

Adolescents with congenital heart disease need information regarding their cardiac condition and health care needs, including any life-style implications of the cardiac diagnosis. Pertinent topics to be addressed include preventive health care needs, physical activity (recreational and vocational considerations), pregnancy and contraception issues, and psychosocial stresses of adolescents. Sensitive counseling and health education by nurses can promote the physical health and psychosocial adaptation of adolescents with congenital heart disease.

PIP: Congenital heart disease impedes developmental tasks associated with adolescence. Thus nurses need to conduct sensitive counseling with adolescents with congenital heart disease. These adolescents see themselves as different and embrace attitudes and behaviors of peers even when some behaviors pose likely health risks. To gain control over their lives and be able to make decisions, they must be familiar with their cardiac condition and complete health care needs. They also view their physical condition as worse than medically indicated. Nurses should counsel each student about sports participation based on an individual basis. Adolescents who have undergone successful cardiac repair for ventricular septal defect, atrial septal defect secundum, endocardial cushion defect (incomplete), and patent ductus arteriosus can participate in competitive sports. Adolescents tend to fear sexual arousal because the heart rate and blood pressure increase. Yet they tend to be as sexually active as their healthy peers. Most people with mild, unoperated heart disease or successfully repaired defects are likely to have a normal pregnancy and a healthy infant. The IUD is contraindicated. Oral contraceptives (OCs) tend to be safe especially progestin-only OCs. Nurses should recommend barrier methods for conscientious users and sexual abstinence. The likelihood of a parent with congenital heart disease having a child with the same disease is higher than the general population, but it still is small. Genetic counseling must also include warnings about the effect of some cardiovascular medications on the developing fetus. Adolescents need vocational guidance to encourage them to pursue careers they want and steer them away from careers that are potentially harmful. Nurses should assess their feelings toward drugs and alcohol to help them choose not to use these substances. They should determine the quality of support systems available to adolescents with heart disease, recognize social concerns, and reinforce positive coping responses.

Health education needs of adolescents with congenital heart disease.

Self-concept, health beliefs, health behaviors, health information sources, and perceived health information needs were assessed in 90 patients with congenital heart disease and 54 peers without chronic illness, ages 13 to 22 years. Data revealed that patients with congenital heart disease did not differ from their healthy counterparts in overall self-concept, health beliefs, use of preventive health services, and sources of health information. Patients with congenital heart disease reported greater perceived stress in comparison to peers. Significantly more patients with heart disease needed information regarding pregnancy and contraception, and older cardiac subjects were less likely to be sexually active. For these patients who currently seem to rely largely on peers for some critical health information, sensitive and comprehensive counseling by health professionals is imperative.