Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Should We Be Concerned About Jejunoileal Atresia During Repair Of Duodenal Atresia?, Shawn D. St Peter, Danny C. Little, Katherine A. Barsness, Daniel R. Copeland, Casey M. Calkins, Suzanne Yoder, Steve S. Rothenberg, Saleem Islam, Kuojen Tsao, Daniel J. Ostlie

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: During repair for duodenal atresia, it has been emphasized that inspection of the small bowel to identify a second atresia is required. The laparoscopic approach for repair of duodenal atresia has been criticized for its limitation to perform this step. Given that duodenal atresia and jejunoileal atresias do not share common embryologic origins, we question the validity of this concern. Therefore, we conducted a multicenter retrospective review of duodenal atresia patients to quantify the incidence of jejunoileal atresia in this population.

METHODS: After institutional review board approval (IRB #07-12-187X), a retrospective review was conducted on all patients who have …

Enalapril In Infants With Single Ventricle: Results Of A Multicenter Randomized Trial., Daphne T. Hsu, Victor Zak, Lynn Mahony, Lynn A. Sleeper, Andrew M. Atz, Jami C. Levine, Piers C. Barker, Chitra Ravishankar, Brian W. Mccrindle, Richard V. Williams, Karen Altmann, Nancy S. Ghanayem, Renee Margossian, Wendy K. Chung, William L. Border, Gail D. Pearson, Mario P. Stylianou, Seema Mital, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Angiotensin-converting enzyme inhibitor therapy improves clinical outcome and ventricular function in adults with heart failure. Infants with single-ventricle physiology have poor growth and are at risk for abnormalities in ventricular systolic and diastolic function. The ability of angiotensin-converting enzyme inhibitor therapy to preserve ventricular function and improve somatic growth and outcomes in these infants is unknown.

METHODS AND RESULTS: The Pediatric Heart Network conducted a double-blind trial involving 230 infants with single-ventricle physiology randomized to receive enalapril (target dose 0.4 mg . kg(-1) . d(-1)) or placebo who were followed up until 14 months of age. The primary end …

Initial Experience With A Miniaturized Multiplane Transesophageal Probe In Small Infants Undergoing Cardiac Operations., Sinai C. Zyblewski, Girish S. Shirali, Geoffrey A. Forbus, Tain-Yen Hsia, Scott M. Bradley, Andrew M. Atz, Meryl S. Cohen, Eric M. Graham

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: There has been reluctance to use intraoperative transesophageal echocardiography (TEE) in small infants. We assessed the utility and safety of a new miniaturized multiplane micro-TEE probe in small infants undergoing cardiac operations.

DESCRIPTION: Hemodynamic and ventilation variables were prospectively recorded before and after micro-TEE insertion and removal in infants weighing 5 kg or less undergoing cardiac operations.

EVALUATION: The study included 42 patients with a mean weight of 3.6 +/- 0.9 kg (range, 1.7 to 5 kg). All probe insertions were successful. There were no complications or clinically significant changes in hemodynamic or ventilation variables. Information provided by TEE …

Partial And Transitional Atrioventricular Septal Defect Outcomes., L Luann Minich, Andrew M. Atz, Steven D. Colan, Lynn A. Sleeper, Seema Mital, James Jaggers, Renee Margossian, Ashwin Prakash, Jennifer S. Li, Meryl S. Cohen, Ronald V. Lacro, Gloria L. Klein, John A. Hawkins, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Surgical and perioperative improvements permit earlier repair of partial and transitional atrioventricular septal defects (AVSD). We sought to describe contemporary outcomes in a multicenter cohort.

METHODS: We studied 87 patients undergoing primary biventricular repair of partial or transitional AVSD between June 2004 and February 2006 across seven North American centers. One-month and 6-month postoperative data included weight-for-age z-scores, left atrioventricular valve regurgitation (LAVVR) grade, residual shunts, and left ventricular ejection fraction. Paired methods were used to assess 6-month change.

RESULTS: Median age at surgery was 1.8 years; median weight z-score was -0.88. Median days for ventilation were 1, intensive …

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets With Alopecia Resulting From A Novel Missense Mutation In The Dna-Binding Domain Of The Vitamin D Receptor., Peter J. Malloy, Jining Wang, Tarak Srivastava, David Feldman

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The rare genetic recessive disease, hereditary vitamin D resistant rickets (HVDRR), is caused by mutations in the vitamin D receptor (VDR) that result in resistance to the active hormone 1,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3) or calcitriol). In this study, we examined the VDR from a young boy with clinical features of HVDRR including severe rickets, hypocalcemia, hypophosphatemia and partial alopecia. The pattern of alopecia was very unusual with areas of total baldness, adjacent to normal hair and regions of scant hair. The child failed to improve on oral calcium and vitamin D therapy but his abnormal chemistries and his bone X-rays normalized …

Parent- Versus Child-Reported Functional Health Status After The Fontan Procedure., Linda M. Lambert, L Luann Minich, Jane W. Newburger, Minmin Lu, Victoria L. Pemberton, Ellen A. Mcgrath, Andrew M. Atz, Mingfen Xu, Elizabeth Radojewski, Darlene Servedio, Brian W. Mccrindle, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: We sought to compare perceptions of functional health status between children who had undergone a Fontan procedure and their parents.

METHODS: Fontan procedure survivors 10 to 18 years of age were included in the study if the child completed the Child Health Questionnaire (CHQ) and the parent completed the parent form to assess the child's functional health status. Comparisons were made between raw domain scores for the parent- and child-completed CHQs.

RESULTS: Between March 2003 and April 2004, 1078 Fontan survivors were screened. Of the 546 eligible and consented patients, 354 were 10-18 years of age and 328 parent/child …

Chromosomal Anomalies Influence Parental Treatment Decisions In Relation To Prenatally Diagnosed Congenital Heart Disease., Sinai C. Zyblewski, Elizabeth G. Hill, Girish S. Shirali, Andrew Atz, Geoffrey Forbus, Javier Gonzalez, Anthony Hlavacek

Manuscripts, Articles, Book Chapters and Other Papers

This study aimed to identify the variables that influence parental treatment decisions after a prenatal diagnosis of congenital heart disease (CHD). The authors reviewed all cases of prenatally diagnosed structural CHD from August 1998 to December 2006 at their center. The following variables were studied as potential predictors of parental intent to treat: maternal age, race, insurance status, obstetric history, fetal gender, univentricular versus biventricular cardiac physiology, and fetal chromosomal abnormality. Uni- and multivariable logistic regression analyses were performed. In the review, 252 consecutive cases of prenatally diagnosed CHD were identified. Of these, 204 women pursued full medical treatment, whereas …

Comparison Of Echocardiographic And Cardiac Magnetic Resonance Imaging Measurements Of Functional Single Ventricular Volumes, Mass, And Ejection Fraction (From The Pediatric Heart Network Fontan Cross-Sectional Study)., Renee Margossian, Marcy L. Schwartz, Ashwin Prakash, Lisa Wruck, Steven D. Colan, Andrew M. Atz, Timothy J. Bradley, Mark A. Fogel, Lynne M. Hurwitz, Edward Marcus, Andrew J. Powell, Beth F. Printz, Michael D. Puchalski, Jack Rychik, Girish S. Shirali, Richard Williams, Shi-Joon Yoo, Tal Geva, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

Assessment of the size and function of a functional single ventricle (FSV) is a key element in the management of patients after the Fontan procedure. Measurement variability of ventricular mass, volume, and ejection fraction (EF) among observers by echocardiography and cardiac magnetic resonance imaging (CMR) and their reproducibility among readers in these patients have not been described. From the 546 patients enrolled in the Pediatric Heart Network Fontan Cross-Sectional Study (mean age 11.9 +/- 3.4 years), 100 echocardiograms and 50 CMR studies were assessed for measurement reproducibility; 124 subjects with paired studies were selected for comparison between modalities. Interobserver agreement …

Functional State Following The Fontan Procedure., Ismee A. Williams, Lynn A. Sleeper, Steven D. Colan, Minmin Lu, Elizabeth A. Stephenson, Jane W. Newburger, Welton M. Gersony, Meryl S. Cohen, James F. Cnota, Andrew M. Atz, Richard V. Williams, Renee Margossian, Andrew J. Powell, Mario P. Stylianou, Daphne T. Hsu, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Despite improvements in outcomes after completion of the Fontan circulation, long-term functional state varies. We sought to identify pre- and postoperative characteristics associated with overall function.

METHODS AND RESULTS: We analyzed data from 476 survivors with the Fontan circulation enrolled in the Pediatric Heart Network Fontan Cross-sectional Study. Mean age at creation of the Fontan circulation was 3.4 plus or minus 2.1 years, with a range from 0.7 to 17.5 years, and time since completion was 8.7 plus or minus 3.4 years, the range being from 1.1 to 17.3 years. We calculated a functional score for the survivors by …

Universal Screening For Extracardiac Abnormalities In Neonates With Congenital Heart Disease., Javier H. Gonzalez, Girish S. Shirali, Andrew M. Atz, Sarah N. Taylor, Geoffrey A. Forbus, Sinai C. Zyblewski, Anthony M. Hlavacek

Manuscripts, Articles, Book Chapters and Other Papers

Extracardiac or genetic abnormalities (EGA) represent a factor in the morbidity of patients with congenital heart disease. We evaluated the way neonates with CHD are screened at our institution and determined the yield for the screening tests. We reviewed the charts of 223 neonates with structural CHD. Subjects were categorized into 6 groups: univentricular, left-sided obstructive lesions, right-sided obstructive lesions, septal defects, conotruncal defects (CTD), and other. We reviewed which patients underwent cranial ultrasonogram (CUS), abdominal ultrasonogram (AUS), and/or genetic studies (GS) as well as their results. There was a high prevalence of EGA in each group by CUS (32% …

Rationale And Design Of A Trial Of Angiotensin-Converting Enzyme Inhibition In Infants With Single Ventricle., Daphne T. Hsu, Seema Mital, Chitra Ravishankar, Renee Margossian, Jennifer S. Li, Lynn A. Sleeper, Richard V. Williams, Jami C. Levine, Brian W. Mccrindle, Andrew M. Atz, Darlene Servedio, Lynn Mahony, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Angiotensin converting enzyme (ACE) inhibitors are known to improve clinical outcome and ventricular function in adults with heart failure. Infants with single-ventricle physiology show abnormalities in ventricular function as well as poor growth. The ability of an ACE inhibitor to preserve ventricular function and improve growth in these infants is unknown.

METHODS: The Pediatric Heart Network designed a randomized, double-blind trial to compare outcomes in infants with single-ventricle physiology receiving enalapril or placebo. Neonates < or =45 days old were eligible. The primary outcome is weight-for-age Z-score at 14 months of age. Secondary outcomes include other measures of somatic growth, laboratory and functional measures of heart failure, developmental indices, measures of ventricular size and function, and the relationship of the renin-angiotensin-aldosterone system genotype to the response to enalapril. The incidence and spectrum of adverse events will also be compared between treatment groups.

RESULTS: A total of 1,245 neonates were screened and 533 (43%) were eligible. The consent rate was 43%; 230 subjects were enrolled. Parental reluctance to …

Predictors Of Emesis And Time To Goal Intake After Pyloromyotomy: Analysis From A Prospective Trial., Shawn D. St Peter, Kuojen Tsao, Susan W. Sharp, G W. Holcomb Iii, Daniel J. Ostlie

Manuscripts, Articles, Book Chapters and Other Papers

Background: Emesis after pyloromyotomy for pyloric stenosis is a common clinical phenomenon and the limiting factor in time to goal feeds. The amount of emesis that can be expected after myotomy is unknown. No data have been published that equip caregivers with the ability to understand which patients are more likely to have emesis and take longer to advance to goal feeds after pyloromyotomy. Therefore, we performed analysis of prospective data obtained from a randomized trial to determine if outcome can be predicted from preoperative or intraoperative variables.

Methods: The dataset was prospectively collected from a randomized trial comparing open …

Design And Rationale Of A Randomized Trial Comparing The Blalock-Taussig And Right Ventricle-Pulmonary Artery Shunts In The Norwood Procedure., Richard G. Ohye, J William Gaynor, Nancy S. Ghanayem, Caren S. Goldberg, Peter C. Laussen, Peter C. Frommelt, Jane W. Newburger, Gail D. Pearson, Sarah Tabbutt, Gil Wernovsky, Lisa M. Wruck, Andrew M. Atz, Steve D. Colan, James Jaggers, Brian W. Mccrindle, Ashwin Prakash, Michael D. Puchalski, Lynn A. Sleeper, Mario P. Stylianou, Lynn Mahony, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: The initial palliative procedure for patients born with hypoplastic left heart syndrome and related single right ventricle anomalies, the Norwood procedure, remains among the highest risk procedures in congenital heart surgery. The classic Norwood procedure provides pulmonary blood flow with a modified Blalock-Taussig shunt. Improved outcomes have been reported in a few small, nonrandomized studies of a modification of the Norwood procedure that uses a right ventricle-pulmonary artery shunt to provide pulmonary blood flow. Other nonrandomized studies have shown no differences between the two techniques.

METHODS: The Pediatric Heart Network designed a randomized clinical trial to compare outcomes for …

Functional Status, Heart Rate, And Rhythm Abnormalities In 521 Fontan Patients 6 To 18 Years Of Age., Andrew D. Blaufox, Lynn A. Sleeper, David J. Bradley, Roger E. Breitbart, Allan Hordof, Ronald J. Kanter, Elizabeth A. Stephenson, Mario Stylianou, Victoria L. Vetter, J Philip Saul, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: Our objective was to determine the relationship between functional outcome and abnormalities of heart rate and rhythm after the Fontan operation.

METHODS: The National Heart, Lung, and Blood Institute Pediatric Heart Network conducted a cross-sectional analysis of patients who had undergone a Fontan procedure at the 7 network centers. Analysis was based on 521 patients with an electrocardiogram (n = 509) and/or bicycle exercise test (n = 404). The Child Health Questionnaire parent report and the oxygen consumption at the anaerobic threshold were used as markers of functional outcome.

RESULTS: Various Fontan procedures had been performed: intracardiac lateral tunnel …

Current Significance Of Meconium Plug Syndrome., Scott J. Keckler, Shawn D. St Peter, Troy L. Spilde, Kuojen Tsao, Daniel J. Ostlie, G W. Holcomb Iii, Charles L. Snyder

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The significance of meconium plug syndrome is dependent on the underlying diagnosis. The incidence of pathologic finding, particularly Hirschsprung's disease, contributing to the presence of these plugs, has been debated. However, there are little recent data in the literature. Therefore, we reviewed our experience with meconium plugs as a cause of abdominal distension to evaluate the associated conditions and incidence of Hirschsprung's disease.

METHODS: We reviewed the records of newborns with meconium plugs found in the distal colon on contrast enema from 1994 to 2007. Demographics, radiologic findings, histologic findings, operative findings, and clinical courses were reviewed.

RESULTS: During …

Survival After Bidirectional Cavopulmonary Anastomosis: Analysis Of Preoperative Risk Factors., Mark A. Scheurer, Elizabeth G Hill, Nagavardhan Vasuki, Scott Maurer, Eric M. Graham, Varsha Bandisode, Girish S. Shirali, Andrew M. Atz, Scott M. Bradley

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Prognostic factors for survival after bidirectional cavopulmonary anastomosis for functionally single ventricle are not well defined. We analyzed preoperative hemodynamic and echocardiographic data to determine risk factors for death or transplantation at least 1 year after bidirectional cavopulmonary anastomosis.

METHODS: Data for all patients who underwent bidirectional cavopulmonary anastomosis before 5 years of age at our institution from September 1995 through June 2005 were analyzed. Available preoperative echocardiograms and catheterizations were reviewed. Survivors were compared with those who died or underwent transplantation. Bivariable associations between demographic and clinical risk factors and survival status (alive without transplantation vs dead or …

Incidence And Outcome Of Cardiopulmonary Resuscitation In Patients With Shunted Single Ventricle: Advantage Of Right Ventricle To Pulmonary Artery Shunt., Eric M. Graham, Geoffrey A. Forbus, Scott M. Bradley, Girish S. Shirali, Andrew M. Atz

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Cardiac Transplant Following Failed Fontan Or Glenn Procedures., Naveen L. Pereira, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Association Of Viral Genome With Graft Loss In Children After Cardiac Transplantation., Girish S. Shirali, J Ni, R E. Chinnock, J K. Johnston, G L. Rosenthal, N E. Bowles, J A. Towbin

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The survival of recipients of cardiac allografts is limited by rejection, lymphoproliferative disease, and coronary vasculopathy. The purpose of this study in children who had received heart transplants was to evaluate the cardiac allografts for myocardial viral infections and to determine whether the presence of viral genome in the myocardium correlates with rejection, coronary vasculopathy, or graft loss.

METHODS: We enrolled heart-transplant recipients 1 day to 18 years old who were undergoing evaluation for possible rejection and coronary vasculopathy. Endomyocardial-biopsy specimens were evaluated for evidence of rejection with the use of standard criteria and were analyzed for the presence …

Recognition Of Left Atrial Aneurysm By Fetal Echocardiography., R R. Fountain-Dommer, H B. Wiles, C O. Shuler, S M. Bradley, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Dobutamine Stress Echocardiography For Assessing Coronary Artery Disease After Transplantation In Children., R L. Larsen, P M. Applegate, D A. Dyar, P A. Ribeiro, S D. Fritzsche, N F. Mulla, Girish S. Shirali, M A. Kuhn, R E. Chinnock, P M. Shah

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: The purpose of this study was to determine the feasibility, safety and diagnostic accuracy of dobutamine stress echocardiography (DSE) for evaluating posttransplant coronary artery disease (TxCAD) in children, and to determine the frequency of selected cardiac events after normal or abnormal DSE.

BACKGROUND: Posttransplant coronary artery disease is the most common cause of graft loss (late death or retransplantation) after cardiac transplantation (CTx) in children. Coronary angiography, routinely performed to screen for TxCAD, is an invasive procedure with limited sensitivity. The efficacy of DSE for detecting atherosclerotic coronary artery disease is established, but is unknown in children after CTx. …

Posttransplant Recoarctation Of The Aorta: A Twelve Year Experience., Girish S. Shirali, C E. Cephus, M A. Kuhn, K K. Ogata, L K. Vander Dussen, R E. Chinnock, N F. Mulla, J K. Johnston, L L. Bailey, S R. Gundry, A J. Razzouk, R L. Larsen

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: This study was undertaken to investigate the incidence of posttransplant recoarctation of the aorta, delineate the mode of presentation, identify risk factors that predict recoarctation and examine the results of intervention for posttransplant recoarctation.

BACKGROUND: Patients with aortic arch hypoplasia require extended arch reconstruction at transplant, with an inherent possibility of subsequent recoarctation of the aorta.

METHODS: This was a retrospective review of all children (ageyears) who underwent cardiac transplantation over a 10-year period. Collected data included pretransplant diagnosis, details of the transplant procedure and posttransplant data including development of recoarctation of the aorta, interventions for recoarctation and the …

The Optimal Fontan Connection: A Growing Extracardiac Lateral Tunnel With Pedicled Pericardium., S R. Gundry, A J. Razzouk, M J. Del Rio, Girish S. Shirali, L L. Bailey

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: The concept of a lateral tunnel for the Fontan operation is now widely accepted. Most lateral tunnels are constructed intraatrially with the use of aortic crossclamping. Construction of extracardiac lateral tunnels with the use of homografts or other nonviable tubes eliminates aortic crossclamping but lacks growth potential in length or width. The native pericardium, which is "sealed" posteriorly along the pulmonary artery, atrium, and inferior vena cava, could be turned down onto the right atrium to form a viable extracardiac lateral tunnel.

METHODS: We designed and successfully constructed extracardiac lateral tunnels using viable autologous pericardium, pedicled on its lateral …

Ventricular Remodeling Following Infant-Pediatric Cardiac Transplantation. Does Age At Transplantation Or Size Disparity Matter?, Girish S. Shirali, F Lombano, W L. Beeson, D A. Dyar, N F. Mulla, A Khan, J K. Johnston, R E. Chinnock, S R. Gundry, A J. Razzouk

Manuscripts, Articles, Book Chapters and Other Papers

Early left ventricular (LV) remodeling following pediatric cardiac transplantation has not been described. To identify patterns and determinants of change in left ventricular mass and volume posttransplant, we studied 125 consecutive children who underwent cardiac transplantation between January 1, 1989 and July 31, 1993. Two-dimensional imaging-directed M-mode echocardiograms were studied weekly until 26 weeks post-transplant. LV mass and volume (indexed to BSA1.5) were measured. LV mass index increased until 3 weeks post-transplant, and then decreased. The mean decrement in LV mass index after 8 weeks post-transplant (relative to baseline) was significantly larger in patients with donor-recipient weight ratio > 1.5 compared …

Maternal-Neonatal Serum Vitamin A Concentrations., Girish S. Shirali, D G. Oelberg, K P. Mehta

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Prevention of neonatal vitamin A deficiency is related to the adequacy of maternal vitamin A stores. In this study we investigated maternal and cord serum vitamin A and retinol-binding protein (RBP) values in an Indian population including, for the first time, clinically vitamin A-deficient mothers. Twenty-eight maternal-neonatal pairs were selected from maternal cohorts of high socioeconomic status without clinical evidence of vitamin A deficiency (group I) and low socioeconomic status with conjunctival xerosis and Bitot's spots (group II). Maternal education, caloric and vitamin A intakes, weight, height, hemoglobin, and birth weight were significantly lower in group II. Serum vitamin A …