B J Clark

Duke University Medical Center, Durham, North Carolina, United States

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Publications (42)269.8 Total impact

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    ABSTRACT: Homozygous familial hypercholesterolemia (hoFH) is caused by mutations in the low-density lipoprotein receptor gene and is characterized by severe hypercholesterolemia from birth and onset of premature cardiovascular disease (CVD) during childhood. The onset and progression of CVD using currently available testing methods in children with hoFH have not been fully characterized. A large cohort of patients with hoFH referred to our subspecialty clinic was studied. Thirty-nine patients (22 aged < or =16 years) underwent extensive cardiovascular, lipid, and genetic evaluation. Sixteen children < or =16 years without known CVD when first evaluated were followed up longitudinally for up to 8 years. CVD was clinically evident in 88% of subjects aged >16 years and 9% of those < or =16 years. Markers of atherosclerosis correlated significantly with age at which lipid-lowering treatment was initiated (abnormal coronary angiogram, abnormal aortic valve using echocardiography, and high calcium score using electron beam computed tomography; all p <0.01; abnormal carotid Doppler result; p = 0.03). Twenty of 22 children had no clinical evidence of coronary artery disease, yet 7 of these children had angiographically confirmed mild coronary artery disease (<50%) and 8 had mild to moderate aortic regurgitation using echocardiography. Of noninvasive tests, only evaluation of aortic valve regurgitation using echocardiography predicted the presence of angiographic coronary stenosis (p <0.001). During follow-up, 7 children developed progression of coronary and/or aortic valvular disease during their teenage years and 4 required surgical interventions. In conclusion, in these patients aggressive lipid-lowering treatment initiated in early childhood is warranted. Careful coronary and valvular surveillance strategies and coronary revascularization when appropriate are also warranted in this high-risk population.
    The American journal of cardiology 01/2009; 102(11):1438-43. · 3.58 Impact Factor
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    ABSTRACT: We characterized a large cohort of children who had a Fontan procedure, with measures of functional health status, ventricular size and function, exercise capacity, heart rhythm, and brain natriuretic peptide (BNP). The characteristics of contemporary Fontan survivors are not well described. We enrolled 546 children (age 6 to 18 years, mean 11.9 years) and compared them within pre-specified anatomic and procedure subgroups. History and outcome measures were obtained within a 3-month period. Predominant ventricular morphology was 49% left ventricular (LV), 34% right ventricular (RV), and 19% mixed. Ejection fraction (EF) was normal for 73% of subjects; diastolic function grade was normal for 28%. Child Health Questionnaire mean summary scores were lower than for control subjects; however, over 80% of subjects were in the normal range. Brain natriuretic peptide concentration ranged from <4 to 652 pg/ml (median 13 pg/ml). Mean percent predicted peak O2 consumption was 65% and decreased with age. Ejection fraction and EF Z score were lowest, and semilunar and atrioventricular (AV) valve regurgitation were more prevalent in the RV subgroup. Older age at Fontan was associated with more severe AV valve regurgitation. Most outcomes were not associated with a superior cavopulmonary connection before Fontan. Measures of ventricular systolic function and functional health status, although lower on average in the cohort compared with control subjects, were in the majority of subjects within 2 standard deviations of the mean for control subjects. Right ventricular morphology was associated with poorer ventricular and valvular function. Effective strategies to preserve ventricular and valvular function, particularly for patients with RV morphology, are needed.
    Journal of the American College of Cardiology 07/2008; 52(2):85-98. · 14.09 Impact Factor
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    ABSTRACT: Risk factors for tricuspid regurgitation (TR) after adult orthotopic heart transplantation (OHT) have been reported, although there are no pediatric data. This study was a single-center retrospective analysis of patients <or= 18 years of age who underwent OHT from January 1990 to December 2004. The impact of TR was evaluated with respect to outcomes (graft failure, etc.). Echocardiograms were available for 99 patients (105 grafts with 6 re-transplants) at a median age of 4.5 years (range 18 days to 17.1 years): 51 (49%) were male; 46 (44%) were transplanted for congenital heart disease; and 76 (72%) had a biatrial anastomosis. Significant TR developed in 30 grafts (29.5%) within a median duration after OHT of 1.2 years (range 0 day to 8.2 years); persistent significant TR until last follow-up was present in 21 grafts (20%). Graft failure (death or need for retransplantation) occurred in 41 grafts (39%), including 14 of 21 grafts (67%) with significant TR. By Kaplan-Meier analysis, freedom from significant TR (95% confidence interval [CI]) at 1, 5 and 10 years was 91.0% (83.4% to 95.2%), 70.2% (55.4% to 80.9%) and 61.5% (39.2% to 77.6%), respectively. No risk factors were identified. Development of significant TR was highly associated with graft failure (p = 0.005). Significant TR occurs with comparable frequency in pediatric and adult OHT populations; risk factors identified in adults were not present in our pediatric population. Development of significant TR in pediatric heart transplant recipients is highly associated with graft failure.
    The Journal of heart and lung transplantation: the official publication of the International Society for Heart Transplantation 06/2008; 27(5):494-500. · 3.54 Impact Factor
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    ABSTRACT: Critical congenital heart disease has been proposed as a target of newborn screening. This study aimed to define the incidence and timing of significant physiologic compromise attributable to critical congenital heart disease as well as the distribution of vulnerable lesions. These descriptive parameters must be defined to evaluate the impact and feasibility of any proposed screening strategy. A retrospective cohort study of neonates who had critical congenital heart disease and were admitted to a single institution was conducted. Critical congenital heart disease was defined as congenital heart disease that required invasive intervention or resulted in death in the first 30 days of life. Significant physiologic compromise was defined by severe metabolic acidosis, seizure, cardiac arrest, or laboratory evidence of renal or hepatic injury before invasive intervention. Significant physiologic compromise was classified as potentially preventable when it occurred as a result of undiagnosed congenital heart disease after 12 hours of life. Significant physiologic compromise occurred in 76 (15.5%) of 490 patients, and potentially preventable significant physiologic compromise occurred in 33 (6.7%) of 490 patients. Most (83%) significant physiologic compromise as a result of unrecognized congenital heart disease occurred after 12 hours of age. A total of 90.9% of cases of potentially preventable significant physiologic compromise had aortic arch obstruction. The incidence of potentially preventable significant physiologic compromise as a result of congenital heart disease in the general population is estimated to be 1 per 15,000 to 1 per 26,000 live births. The incidence and timing of significant physiologic compromise as a result of critical congenital heart disease seems amenable to postnatal screening. Any viable screening strategy must be sensitive for lesions with aortic arch obstruction.
    PEDIATRICS 05/2008; 121(4):751-7. · 4.47 Impact Factor
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    ABSTRACT: To determine physical activity levels in paediatric patients who underwent the Fontan procedure, and their relationship to functional status and exercise capacity. We studied 147 patients (ages 7-18 years) at a median of 8.1 years after Fontan, as part of the Pediatric Heart Network cross-sectional study of Fontan survivors. Assessment included medical history, self-reported physical activity, parent-completed Child Health Questionnaire (CHQ), cardiopulmonary exercise testing and physical activity level measured by accelerometry (MTI Actigraph). Measured time spent in moderate and vigorous activity was markedly below normal at all ages, particularly in females, and was not significantly related to self-reported activity levels, or to maximum Vo2, Vo2 at anaerobic threshold or maximum work rate on exercise testing. Lower measured activity levels were significantly related to lower perceived general health but not to self-esteem, physical functioning, social impact of physical limitations or overall physical or psychosocial health summary scores. Reduced exercise capacity was more strongly related than measured activity levels to lower scores in general health, self-esteem and physical functioning. Physical activity levels are reduced after Fontan, independent of exercise capacity, and are associated with lower perceived general health but not other aspects of functional status.
    Archives of Disease in Childhood 07/2007; 92(6):509-14. · 3.05 Impact Factor
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    ABSTRACT: Clinical trials in children with congenital heart disease are often limited by the absence of the following: (1) a primary outcome that can be observed in a reasonable period; (2) information regarding health-related quality of life; (3) knowledge of the correlation between health status and ventricular function and exercise performance; (4) a sufficient number of children at a single institution to provide adequate statistical power; and (5) procedural and management differences between and within institutions. The NHLBI-funded Pediatric Heart Network designed a cross-sectional study of children aged 6 to 18 years, from 7 pediatric clinical centers, who had undergone a Fontan procedure as treatment for congenital heart disease. Health-related quality of life was measured by the Child Health Questionnaire and the Congenital Heart Adolescent and Teenager Questionnaire. Ventricular function was assessed by maximal exercise testing, echocardiography, cardiac magnetic resonance imaging, and B-type natriuretic peptide. The study was designed to detect a correlation of R > or = 0.30 between health status scores and measures of ventricular function and performance in a subcohort with all study measures completed. A total of 1078 children were screened by chart review; 644 (60%) were eligible. The consent rate was 85% and 546 children were enrolled. Acquisition of echocardiograms, B-type natriuretic peptide, and health status was > or = 94%; completion rates were lower for maximal exercise testing (76%) and cardiac magnetic resonance imaging (41%). This large study provides unique information regarding the relationship between health status and clinical measures in post-Fontan patients that will facilitate the design of future randomized trials.
    American heart journal 09/2006; 152(3):427-33. · 4.65 Impact Factor
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    ABSTRACT: The purpose of this study was to identify factors that influence postoperative intensive care unit length of stay (ICULOS) in infants less than 6 months of age undergoing congenital heart surgery. Records from a single institution, from January 2000 to December 2000, were reviewed. For analysis, surgical severity was characterized using an ordinal scoring system, the Aristotle Basic Complexity Score (ABCS; range 1-4). Of 221 infants, 63 had elective surgery, that is, admission to the cardiac intensive care unit after surgery, and 158 had nonelective surgery with admission to the cardiac intensive care unit preoperatively. Elective vs. Nonelective groups differed: ABCS (median 2 vs. 3, P < .001), age at surgery (mean 110 + 10.5 vs. 27 + 3.7 days, P < .001), ICULOS (median 3.5 vs. 7 days, P < .000), and mortality (0% vs. 12.7%P < .0001). Step-wise multiple regression was performed using the natural log of ICULOS as the dependent variable. Factors associated with longer ICULOS for all 221 patients included: increasing ABCS, preoperative organ-system failure, total support time (= cardiopulmonary bypass time + deep hypothermic circulatory arrest time), total hours of postoperative ventilatory support, the need for postoperative cardiac catheterization, postoperative necrotizing enterocolitis, and postoperative nasogastric feeds. Higher preoperative weight and surgical repair vs. palliation were associated with a decrease in ICULOS. In conclusion, preoperative organ dysfunction, need for nasogastric feeding, and total support time may offer measurable variables useful in predicting that infant at greatest risk for extended ICULOS.
    Congenital Heart Disease 08/2006; 1(4):152-60. · 1.01 Impact Factor
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    ABSTRACT: The objective of this study was to determine the efficacy of balloon angioplasty (BA) by comparing the immediate and long-term outcomes of patients with and without re-coarctation after a Norwood procedure. Although BA has become the standard means for treating recurrent coarctation following a Norwood operation, it has been suggested that re-coarctation remains a significant cause of morbidity and mortality. Patients who survived a Norwood operation from December 1986 through June 2001 were studied. Differences between groups were evaluated by t test and logistic regression. Survival differences were tested by log-rank tests using Kaplan-Meier survival curves. Fifty-eight of 633 patients underwent treatment for re-coarctation (9.2%). Thirty-five patients underwent BA (before 1988, 23 had surgery). Median age at catheterization was 6.6 months (1.9 to 35.6 months). Balloon angioplasty was successful (gradient <10 mm Hg) in 32 of 35 patients (92%). There were no BA-related deaths or neurologic complications. Recurrent obstruction after BA occurred in seven patients (20%); five underwent re-dilation. Kaplan-Meier estimates of freedom from recurrent obstruction after initial BA were 97% at one month, 79% at one year, and 79% at five years. There were no differences in survival between patients with re-coarctation treated by BA and patients who did not undergo treatment for re-coarctation. We found that 9.2% of patients underwent treatment for re-coarctation following a Norwood operation. Balloon angioplasty is effective, with low morbidity, no early mortality, and no difference in long-term survival when compared with patients who did not have re-coarctation. Recurrent coarctation following BA occurred in 17% of patients, usually within the first year after BA.
    Journal of the American College of Cardiology 07/2005; 45(11):1844-8. · 14.09 Impact Factor
  • Journal of Heart and Lung Transplantation. 01/2005; 24(2):S112-S113.
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    ABSTRACT: Thoracic organ transplantation is a life-changing event for a child and family from both a physical and a psychosocial perspective. Accurate pre-transplantation counseling and effective post-transplantation follow-up depend on a good understanding of post-transplantation health status, especially as perceived by families. The Child Health Questionnaire-Parent Form 50 (CHQ-P50), an instrument that assesses parent-reported health status of pediatric patients, was administered to 47 pediatric thoracic organ transplant recipients (41 heart, 6 lung) 5 to 18 years of age. Transplant recipients scored lower on the Physical Health Summary (PhS) score than the general population, as evidenced by a lower median score (50.6 vs 55.1, p < 0.0001) and a difference in the distribution of quartiles (p = 0.001), skewed toward the lower quartiles of the general population. The distribution of PhS scores in transplant recipients was comparable to scores of 3 groups of pediatric patients with other chronic health conditions (juvenile rheumatoid arthritis, epilepsy and asthma). The distribution of the Psychosocial Health Summary (PsS) scores was similar to that of the general population, but the median score was lower (51.5 vs 53.2, p = 0.02). Transplant patients clearly scored lower than the general population on 4 of 12 sub-scales, including those assessing general health, physical functioning, family activities and parental emotional impact. No difference was found in sub-scales reflecting self-esteem, mental health, behavior, pain, peer interactions, family cohesion or parental time demands. Thoracic organ transplantation in children ages 5 to 18 years is associated with an ongoing deficit in parent-perceived physical health status.
    The Journal of Heart and Lung Transplantation 09/2004; 23(9):1111-8. · 5.11 Impact Factor
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    ABSTRACT: As the number of pediatric cancer survivors increases, so does the number of survivors previously exposed to anthracyclines as part of their cancer therapy. Because screening is costly, some have suggested that health-related quality of life (HRQL) measures might be useful in focusing screening tests on those patients with cases most likely to display positive findings. This study reports on the predictive ability of HRQL measures to detect patients with abnormalities on serial cardiac testing. Using 127 patients from the ACE-Inhibitor after Anthracycline (AAA) Trial, this study compared serial measures of the Short Form-36 (SF-36; for ages > 13 years) and Child Health Questionnaire-Child Form 87 (CHQ-CF87; for ages < or = 13 years) to serial cardiac performance tests including echocardiographic shortening fraction, left ventricular end systolic wall stress (LVESWS), LVESWS-index, and maximal cardiac index (MCI; a measure of cardiac output at peak exercise). Generally, there was no clinically or statistically significant correlation between any HRQL measure and any cardiac function measure except between MCI and vitality and physical functioning. For each of these measures, the correlation between MCI was statistically significant (P < .006), but each HRQL subscale could explain no more than 7% of the variation in MCI. HRQL measures were not predictive of any other cardiac function measure. HRQL measures should not be used in isolation as a screen for cardiac function abnormalities in patients exposed to anthracylines who already have a mild degree of ventricular dysfunction. Patient history appears to be no substitute for cardiac testing in this cohort.
    Journal of Clinical Oncology 08/2004; 22(15):3149-55. · 18.04 Impact Factor
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    ABSTRACT: To determine whether an angiotensin-converting enzyme (ACE) inhibitor, enalapril, prevents cardiac function deterioration (defined using maximal cardiac index [MCI] on exercise testing or increase in left ventricular end-systolic wall stress [LVESWS]) in long-term survivors of pediatric cancer. This was a randomized, double-blind, controlled clinical trial comparing enalapril to placebo in 135 long-term survivors of pediatric cancer who had at least one cardiac abnormality identified at any time after anthracycline exposure. There was no difference in the rate of change in MCI per year between enalapril and placebo groups (0.30 v 0.18 L/min/m(2); P =.55). However, during the first year of treatment, the rate of change in LVESWS was greater in the enalapril group than in the placebo group (-8.59 v 1.85 g/cm(2); P =.033) and this difference was maintained over the study period, resulting in a 9% reduction in estimated LVESWS by year 5 in the enalapril group. Six of seven patients removed from random assignment to treatment because of cardiac deterioration were initially treated with placebo (P =.11), and one has died as a result of heart failure. Side effects from enalapril included dizziness or hypotension (22% v 3% in the placebo group; P =.0003) and fatigue (10% v 0%; P =.013). Enalapril treatment did not influence exercise performance, but did reduce LVESWS in the first year; this reduction was maintained over the study period. Any theoretical benefits of LVESWS reduction in this anthracycline-exposed population must be weighed against potential side effects from ACE inhibitors when making treatment decisions.
    Journal of Clinical Oncology 04/2004; 22(5):820-8. · 18.04 Impact Factor
  • Journal of the American College of Cardiology 03/2003; 41(6):489-489. · 14.09 Impact Factor
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    ABSTRACT: To review and describe pneumatosis intestinalis (PI) in children who have undergone thoracic organ transplantation and evaluate potential risk factors. We retrospectively reviewed abdominal radiographs obtained from June 1992 through September 2000 in all pediatric (age <21 years) thoracic organ recipients who survived at least 1 week after transplantation. In this group, a case was defined as an episode of radiographically confirmed PI; those without PI were assigned as controls. Variables analyzed included demographic data, gastroenteritis history (stool cultures or symptoms of gastroenteritis), and transplant-related factors (ie, graft type, rejection history, immunosuppression regimen). Significance was defined as P <.05. Over this 8-year period, PI occurred in 8 (7%) of 116 patients (0.86% annual risk). No child had >1 diagnosed episode of PI. Of these 8 cases, 7 presented with 1 or more abdominal symptoms. Three of these children had rotavirus antigen isolated in their stool, 2 others were noted to have stool positive for Clostridium difficile toxin, and in the other 3, no pathogen was identified. All cases were treated with a regimen of intravenous antibiotics and total parenteral nutrition. There were no deaths; however, 1 patient developed an Aspergillus pulmonary infection during his course of antibiotic therapy, and another underwent an exploratory laparotomy without bowel resection. Significant risk factors included black race (unadjusted odds ratio: 16), younger age at presentation (age <5 years; unadjusted odds ratio: 9), higher steroid dose (steroid dose >0.5 mg/kg/d; unadjusted odds ratio: 7), and a higher tacrolimus level at presentation (tacrolimus level >1; unadjusted odds ratio: 6). PI did not occur with a steroid dose <0.4 mg/kg/d. Variables not associated with increased risk for developing PI included gender, graft type, total white blood cell count, recent antibiotic use, concurrent use of an antimetabolite, cytomegaloviral infection, past use of extracorporeal membrane oxygenation, and graft rejection history. Significant risk factors for the development of PI in our pediatric thoracic organ transplantation population included black race, younger age, higher daily steroid dosing, and a high tacrolimus level at presentation. In the children diagnosed with PI, there were no related deaths, significant gastrointestinal sequelae, or complications. These findings suggest that in this population, PI will often have a benign course when treated aggressively, and that steroid dosing should be reduced to <0.5 mg/kg/d whenever possible.
    PEDIATRICS 05/2002; 109(5):E78-8. · 4.47 Impact Factor
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    ABSTRACT: Mechanical cardiorespiratory support is occasionally required before or after pediatric thoracic organ transplantation. Extracorporeal membrane oxygenation is the most commonly used mechanical support technique in children. The goal of this study was to examine the indications for initiation and outcomes after peritransplant use of extracorporeal membrane oxygenation. A retrospective study was conducted of 65 patients who received peritransplant extracorporeal membrane oxygenation between November 1994 and June 2000. The pretransplant group included 45 patients (average age, 38 months) supported with extracorporeal membrane oxygenation and listed for transplantation (31 heart, 8 lung, and 6 heart-lung), and the post-transplant group included 20 patients (average age, 83 months) who required extracorporeal membrane oxygenation after thoracic organ transplantation (12 heart, 6 lung, and 2 heart-lung transplants). Hospital course and outcomes were evaluated. With regard to pretransplant extracorporeal membrane oxygenation, patients listed for heart transplants were more likely to survive to transplantation than were those listed for lung or heart-lung transplants (12/31 [39%] vs 1/14 [7%], P =.03). There was no difference in long-term survival between heart transplant patients after extracorporeal membrane oxygenation and those without extracorporeal membrane oxygenation (12-month actuarial survival, 83% vs 73%; P =.68). Patients who survived for prolonged periods on extracorporeal membrane oxygenation (>250 hours) typically received heart transplants (7/8 [88%]). With regard to post-transplant extracorporeal membrane oxygenation, patients receiving lung or heart-lung transplants had better short-term outcomes than those receiving heart transplants (63% survived to discharge vs 33%). All 3 patients with early graft dysfunction receiving lung transplants survived to discharge. Long-term outcomes among those undergoing heart transplantation after support with an extracorporeal membrane oxygenator are comparable with those of patients not receiving extracorporeal membrane oxygenation. Extracorporeal membrane oxygenation can be a useful post-transplant support device, particularly in patients undergoing lung transplants.
    Journal of Thoracic and Cardiovascular Surgery 01/2002; 123(1):130-6. · 3.53 Impact Factor
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    ABSTRACT: Primary tumors of the cardiac valves are rare. One of the most common reasons that left-sided cardiac tumors come to clinical attention is embolization to the systemic circulation. We present two children who suffered left coronary arterial occlusion due to embolization of a sarcoma of the mitral valve. A 6-year-old female who had been admitted to the hospital after cerebrovascular embolization of a fragment of sarcoma of the mitral valve experienced sudden cardiovascular collapse due to occlusion of the left coronary artery. She was placed on extracorporeal membrane oxygenation, and underwent coronary embolectomy and resection of the tumor from the mitral valve and its tendinous cords. Left ventricular function did not improve, and she underwent orthotopic heart transplantation. On follow-up 32 months after transplant, the patient is well, with no evidence of recurrence of or metastasis from the tumor. The tumor arose from the leaflets and tendinous cords of the mitral valve, and was composed grossly of multiple white nodules. Histopathologic evaluation disclosed fragments composed predominantly of peripheral spindle cells in an extensive fibromyxoid stroma. The mildly pleomorphic cells of the tumor gradually blended with adjacent pieces of the mitral valvar leaflet and tendinous cords. Immunohistochemical studies revealed strong staining for vimentin, smooth muscle actin, muscle specific actin, and myoglobin, suggesting myogenic differentiation. The other patient was a 2 1/2-year-old female who died suddenly at home. Grossly and histologically, the tumor was essentially identical to the first case, and there was a 3 cm string-like extension passing into the orifice of the left coronary artery. To put the cases in context, we compare them with other descriptions of this rare type of tumor.
    Cardiology in the Young 10/2001; 11(5):539-42. · 0.95 Impact Factor
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    ABSTRACT: The ACE Inhibitor After Anthracycline (AAA) study is a randomized, double-blind, controlled clinical trial comparing enalapril with placebo to determine whether treatment can slow the progression of cardiac decline in patients who screen positive for anthracycline cardiotoxicity. The primary outcome measure is the rate of decline, over time, in maximal cardiac index (in liters per minute per meters squared) at peak exercise; the secondary outcome measure is the rate of increase in left ventricular end systolic wall stress (in grams per centimeters squared). Patients >2 years off therapy and <4 years from diagnosis, aged 8 years and older, were eligible if they had received anthracyclines and had at least one cardiac abnormality identified at any time after anthracycline exposure. A total of 135 patients were randomized to enalapril or placebo. Baseline characteristics were similar across treatment groups. The AAA study will provide important information concerning the efficacy of using angiotensin-converting enzyme inhibitors to offset the effects of late anthracycline cardiotoxicity.
    American heart journal 10/2001; 142(4):577-85. · 4.65 Impact Factor
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    ABSTRACT: Soft tissue tumors are uncommon manifestations of Epstein-Barr virus (EBV) infection in patients who have had transplants. The authors report 2 metachronous EBV-containing smooth muscle tumors in a child who had a heart transplant, and review the literature on posttransplant soft tissue tumors.
    Journal of Pediatric Surgery 10/2001; 36(9):1452-5. · 1.38 Impact Factor
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    ABSTRACT: The purpose of this study was to determine the frequency of chromosome 22q11 deletions in patients with isolated anomalies of the aortic arch and its branches. Chromosome 22q11 deletions are often present in patients with certain forms of congenital cardiovascular disease, including tetralogy of Fallot, truncus arteriosus and interruption of the aortic arch. Among patients with these anomalies, chromosome 22q11 deletion is more common in those with abnormal aortic arch laterality or branching. We studied 66 patients with isolated anomalies of the aortic arch and no associated intracardiac defects for deletions within chromosome 22q11, using fluorescence in situ hybridization with the cosmid probe N25 (D22S75). Arch anomalies included: double aortic arch (n = 22); right aortic arch with aberrant left subclavian artery (n = 28); right aortic arch with mirror-image branching and a vascular ring formed by a left-sided ductus from the descending aorta (n = 5); right aortic arch with mirror-image branching and no vascular ring (n = 4); and left aortic arch with aberrant right subclavian artery (n = 7). In addition, four patients had a cervical aortic arch, four had aortic coarctation and six had hypoplasia/atresia of the proximal pulmonary arteries. Chromosome 22q11 deletions were found in 16 patients (24%) across the full spectrum of anomalies studied. Among the morphologic variables analyzed, only hypoplasia/atresia of the proximal pulmonary arteries correlated with the deletion (p = 0.03). Among patients with a double arch, the frequency of chromosome 22q11 deletion was higher in those with an atretic minor arch than it was in those with a patent minor arch (p = 0.02). Chromosome 22q11 deletion is associated with isolated anomalies of laterality or branching of the aortic arch in 24% of cases in our series. These findings should alert the clinician to consider deletion screening in patients with isolated anomalies of the aortic arch.
    Journal of the American College of Cardiology 07/2001; 37(8):2114-9. · 14.09 Impact Factor
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    ABSTRACT: Prenatal echocardiography can identify the fetus that has complex congenital heart disease and may improve early management and surgical outcome. Prenatal diagnosis may be particularly beneficial to patients who have hypoplastic left heart syndrome (HLHS) and who are at risk for hypoxic-ischemic insult at presentation. We sought to determine whether prenatal diagnosis reduces neurologic morbidity and operative mortality in patients who undergo palliative surgery for the HLHS. Data from all patients who had HLHS, except for those with lethal genetic anomalies, and who were admitted to our institution between July 1992 and September 1997 were analyzed to assess the impact of prenatal diagnosis on preoperative management, neurologic morbidity, and surgical mortality. The primary outcome measures were hospital mortality and the incidence of adverse neurologic events (seizure or coma). There were 216 patients who had HLHS and were referred for surgical palliation, 79 (36.6%) of whom had been diagnosed prenatally. All patients who had been diagnosed prenatally were delivered in an advanced nursery and were started on prostaglandin E(1) on the first day of life. Patients whose HLHS was diagnosed postnatally were begun on prostaglandin E(1) later in life (median = day 2 [range = 1-28 days]). There were 4 preoperative deaths and 53 operative or postoperative deaths. Overall hospital mortality was 26.4% and did not differ between patients whose HLHS had been diagnosed prenatally and those whose HLHS had been diagnosed postnatally. With the use of multivariable analysis, prenatal diagnosis was associated with fewer adverse perioperative neurologic events in the patients whose HLHS had been diagnosed prenatally than in those whose HLHS had been diagnosed postnatally (odds ratio = 0.46). These data suggest that prenatal diagnosis has a favorable impact on treatment of patients who have HLHS and are undergoing staged palliation and reduces early neurologic morbidity. Prenatal diagnosis was not associated with reduced hospital mortality. It is possible that prenatal diagnosis may improve long-term neurologic outcome.
    PEDIATRICS 07/2001; 107(6):1277-82. · 4.47 Impact Factor

Publication Stats

2k Citations
269.80 Total Impact Points

Institutions

  • 2008
    • Duke University Medical Center
      Durham, North Carolina, United States
  • 1998–2008
    • The Children's Hospital of Philadelphia
      • • Division of Cardiothoracic Surgery
      • • Division of Cardiology
      Philadelphia, Pennsylvania, United States
  • 2006
    • New England Research Institutes
      Watertown, Massachusetts, United States
  • 1997
    • Hospital of the University of Pennsylvania
      • Department of Pediatrics
      Philadelphia, Pennsylvania, United States