Elizabeth Goldmuntz

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. pmc Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
    Nadja Muncke
    Institut fur Humangenetik, Universitat Heidelberg, INF 366, 69120 Heidelberg, Germany
    BMC Med Genet 6:20. 2005
  2. ncbi request reprint The genetic contribution to congenital heart disease
    Elizabeth Goldmuntz
    The University of Pennsylvania School of Medicine, The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Pediatr Clin North Am 51:1721-37, x. 2004
  3. ncbi request reprint DiGeorge syndrome: new insights
    Elizabeth Goldmuntz
    Division of Cardiology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Abramson Research Center 702A, 3615 Civic Center Boulevard, Philadelphia, PA 19104 4318, USA
    Clin Perinatol 32:963-78, ix-x. 2005
  4. ncbi request reprint Frequency of 22q11 deletions in patients with conotruncal defects
    E Goldmuntz
    The Children s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, 19104, USA
    J Am Coll Cardiol 32:492-8. 1998
  5. pmc Variants of folate metabolism genes and the risk of conotruncal cardiac defects
    Elizabeth Goldmuntz
    Division of Cardiology, Department of Pediatrics, The Children s Hospital of Philadelphia, PA 19104 4318, USA
    Circ Cardiovasc Genet 1:126-32. 2008
  6. doi request reprint 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases
    Shabnam Peyvandi
    Division of Pediatric Cardiology, The Children s Hospital of Philadelphia, Department of Pediatrics at the Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA
    Pediatr Cardiol 34:1687-94. 2013
  7. ncbi request reprint Morbidity in children and adolescents after surgical correction of interrupted aortic arch
    Michael L O'Byrne
    Division of Cardiology, The Children s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, 34th St and Civic Center Blvd, Philadelphia, PA, 19104, USA
    Pediatr Cardiol 35:386-92. 2014
  8. pmc Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis
    Robert C Bauer
    Department of Pediatrics, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
    Hum Mutat 31:594-601. 2010
  9. pmc Morbidity in children and adolescents after surgical correction of truncus arteriosus communis
    Michael L O'Byrne
    Division of Pediatric Cardiology, The Children s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA Electronic address
    Am Heart J 166:512-8. 2013
  10. pmc The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle
    Lisa C A D'Alessandro
    Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Med Genet A 161:792-802. 2013

Research Grants

  1. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2003
  2. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2004
  3. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2004
  4. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2005
  5. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2005
  6. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2006
  7. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2006
  8. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2007
  9. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2007

Detail Information

Publications38

  1. pmc Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
    Nadja Muncke
    Institut fur Humangenetik, Universitat Heidelberg, INF 366, 69120 Heidelberg, Germany
    BMC Med Genet 6:20. 2005
    ..TGA accounts for 5-7% of all congenital heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent cyanotic heart defect diagnosed in the neonatal period...
  2. ncbi request reprint The genetic contribution to congenital heart disease
    Elizabeth Goldmuntz
    The University of Pennsylvania School of Medicine, The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Pediatr Clin North Am 51:1721-37, x. 2004
    ..This article reviews the more recent findings on the genetic basis of congenital cardiovascular disease and highlights the clinical applications of these discoveries...
  3. ncbi request reprint DiGeorge syndrome: new insights
    Elizabeth Goldmuntz
    Division of Cardiology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Abramson Research Center 702A, 3615 Civic Center Boulevard, Philadelphia, PA 19104 4318, USA
    Clin Perinatol 32:963-78, ix-x. 2005
    ..Routine testing for a 22q11 deletion in this subset of patients should be considered to provide anticipatory medical intervention and appropriate family counseling...
  4. ncbi request reprint Frequency of 22q11 deletions in patients with conotruncal defects
    E Goldmuntz
    The Children s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, 19104, USA
    J Am Coll Cardiol 32:492-8. 1998
    ....
  5. pmc Variants of folate metabolism genes and the risk of conotruncal cardiac defects
    Elizabeth Goldmuntz
    Division of Cardiology, Department of Pediatrics, The Children s Hospital of Philadelphia, PA 19104 4318, USA
    Circ Cardiovasc Genet 1:126-32. 2008
    ..However, efforts to establish the relationships between these factors and CHD risk have been hampered by a number of factors including small study sample sizes and phenotypic heterogeneity...
  6. doi request reprint 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases
    Shabnam Peyvandi
    Division of Pediatric Cardiology, The Children s Hospital of Philadelphia, Department of Pediatrics at the Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA
    Pediatr Cardiol 34:1687-94. 2013
    ..A concurrent AAA increases the risk regardless of the intracardiac anatomy. These findings help to direct genetic screening for the 22q11.2 deletion syndrome in the cardiac patient...
  7. ncbi request reprint Morbidity in children and adolescents after surgical correction of interrupted aortic arch
    Michael L O'Byrne
    Division of Cardiology, The Children s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, 34th St and Civic Center Blvd, Philadelphia, PA, 19104, USA
    Pediatr Cardiol 35:386-92. 2014
    ..Subjects with IAA demonstrate a significant burden of operative and transcatheter intervention and large magnitude deficits in exercise performance, health status, and health-related quality of life. ..
  8. pmc Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis
    Robert C Bauer
    Department of Pediatrics, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
    Hum Mutat 31:594-601. 2010
    ..Patients with right-sided cardiac defects should be carefully screened for features of AGS or a family history of cardiac defects that might suggest the presence of a JAG1 mutation...
  9. pmc Morbidity in children and adolescents after surgical correction of truncus arteriosus communis
    Michael L O'Byrne
    Division of Pediatric Cardiology, The Children s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA Electronic address
    Am Heart J 166:512-8. 2013
    ..Studies of outcome after operative correction of truncus arteriosus communis (TA) have focused on mortality and rates of reintervention. We sought to investigate the clinical status of children and adolescents with surgically corrected TA...
  10. pmc The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle
    Lisa C A D'Alessandro
    Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Med Genet A 161:792-802. 2013
    ..ZIC3 mutations were found in 3.7% of patients with sporadic heterotaxy; therefore testing should be considered in patients with heterotaxy...
  11. ncbi request reprint Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome
    Doff B McElhinney
    Division of Cardiology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104 4318, USA
    Circulation 106:2567-74. 2002
    ....
  12. pmc 22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot
    Laura Mercer-Rosa
    Division of Cardiology, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, PA Electronic address
    J Thorac Cardiovasc Surg 146:868-73. 2013
    ..We sought to investigate the impact of 22q11.2 deletion on perioperative outcome in tetralogy of Fallot...
  13. doi request reprint A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome
    Brittney Murray
    Division of Cardiology, Johns Hopkins University, Baltimore, Maryland, USA
    Am J Med Genet A 161:371-6. 2013
    ..Finally, it suggests that individuals with unexplained cardiomyopathy and dysmorphic facial features may benefit from CMA analysis...
  14. ncbi request reprint NKX2.5 mutations in patients with congenital heart disease
    Doff B McElhinney
    The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Am Coll Cardiol 42:1650-5. 2003
    ..The purpose of this study was to estimate the frequency of NKX2.5 mutations in specific cardiovascular anomalies and investigate genotype-phenotype correlations in individuals with NKX2.5 mutations...
  15. pmc Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome
    Elizabeth Goldmuntz
    Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Birth Defects Res A Clin Mol Teratol 85:125-9. 2009
    ..2 deletion...
  16. ncbi request reprint Tricuspid annular plane systolic excursion in the assessment of right ventricular function in children and adolescents after repair of tetralogy of Fallot
    Laura Mercer-Rosa
    Division of Cardiology, Department of Pediatrics, The Children s Hospital of Philadelphia and the Perelman School of Medicine, Philadelphia, Pennsylvania Penn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania Electronic address
    J Am Soc Echocardiogr 26:1322-9. 2013
    ..The aim of this study was to investigate the reliability and validity of tricuspid annular plane systolic excursion (TAPSE) against cardiac magnetic resonance imaging measures and cardiopulmonary exercise testing...
  17. ncbi request reprint Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families
    Shabnam Peyvandi
    Division of Pediatric Cardiology, Department of Pediatrics, Perelman School of Medicine, The Children s Hospital of Philadelphia, The University of Pennsylvania, Philadelphia, Pennsylvania
    Am J Med Genet A 164:1490-5. 2014
    ..These findings contribute to risk counseling in the current era...
  18. pmc Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis
    Kathryn C Chatfield
    Department of Pediatrics, Section of Pediatric Cardiology, The Children s Hospital of Colorado, Denver, USA
    Am J Med Genet A 158:2499-505. 2012
    ..Structural CHDs were more likely to be present in individuals with moderate and severe CdLS than in the mild phenotype. This study evaluates the trends of CHD seen in the CdLS population and correlates these findings with genotype...
  19. doi request reprint Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies
    Elizabeth Goldmuntz
    Divisions of Cardiology Human Genetics Oncology Center for Applied Genomics Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Congenit Heart Dis 6:592-602. 2011
    ....
  20. ncbi request reprint Aortic root dilation in patients with 22q11.2 deletion syndrome
    Anitha S John
    Division of Cardiology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 149:939-42. 2009
    ..2 deletion that may be of clinical importance. Further long-term study is warranted to assess the need for echocardiographic screening in the 22q11.2 deleted population for aortic root dilation into adolescence and adulthood...
  21. ncbi request reprint The cardiovascular manifestations of Alagille syndrome and JAGI mutations
    Elizabeth Goldmuntz
    The Division of Cardiology, Abramson Research Center, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Methods Mol Med 126:217-31. 2006
    ....
  22. ncbi request reprint Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion
    Tiffanie R Johnson
    Division of Pediatric Cardiology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Am J Cardiol 96:1726-30. 2005
    ..All MRI findings were abnormal, and in 16 of 17 cases, echocardiography was unable to define aortic arch anomalies correctly compared with MRI...
  23. pmc Quantifying pulmonary regurgitation and right ventricular function in surgically repaired tetralogy of Fallot: a comparative analysis of echocardiography and magnetic resonance imaging
    Laura Mercer-Rosa
    Division of Cardiology, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA
    Circ Cardiovasc Imaging 5:637-43. 2012
    ..We sought to compare measures of PR and RV function on echocardiogram to those on cardiac magnetic resonance (CMR) and to develop a new tool for assessing PR by echocardiogram...
  24. pmc Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
    Angela E Lin
    Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
    Genet Med 10:469-94. 2008
    ..New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome...
  25. doi request reprint The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions
    Lisa C A D'Alessandro
    The Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    Congenit Heart Dis 9:83-6. 2014
    ..A large microdeletion at 16p12.1 is associated with childhood developmental delay, and initial studies describing this deletion identified left-sided lesions as an enriched phenotype compared with a control population...
  26. ncbi request reprint Chromosomal and cardiovascular anomalies associated with congenital laryngeal web
    Doff B McElhinney
    Division of Pediatric Cardiology, The Children s Hospital of Philadelphia, Abramson Research Center 702A, 3516 Civic Center Blvd, Philadelphia, PA 19104 4318, USA
    Int J Pediatr Otorhinolaryngol 66:23-27. 2002
    ..The purpose of this study was to estimate the frequency of chromosomal and cardiovascular anomalies associated with a congenital laryngeal web...
  27. ncbi request reprint Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome
    Doff B McElhinney
    Division of Cardiology, Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania Medical Center, 3516 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Am J Med Genet 113:238-41. 2002
    ..In the newborn with Down syndrome, the potential benefits of early diagnosis, in the context of physical examination findings, should be considered in determining whether an echocardiogram should be performed in the neonatal period...
  28. ncbi request reprint Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome
    James J Yi
    Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania Department of Child and Adolescent Psychiatry and Behavioral Science, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Am J Med Genet B Neuropsychiatr Genet 165:137-47. 2014
    ..These findings suggest that the 22q11.2 deletion status itself may confer significant neuropsychiatric vulnerability in this population...
  29. pmc CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle
    Elizabeth Goldmuntz
    Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Hum Genet 70:776-80. 2002
    ..In addition, these results demonstrate that the molecular pathway involving CFC1 plays a critical role in normal and abnormal cardiovascular development...
  30. pmc The 22q11.2 deletion in African-American patients: an underdiagnosed population?
    Donna M McDonald-McGinn
    Division of Human Genetics and Molecular Biology, The Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA
    Am J Med Genet A 134:242-6. 2005
    ..We, therefore, suggest that the clinician's threshold of suspicion should be lower in African-American patients...
  31. doi request reprint Differential branch pulmonary artery regurgitant fraction is a function of differential pulmonary arterial anatomy and pulmonary vascular resistance
    Matthew A Harris
    University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    JACC Cardiovasc Imaging 4:506-13. 2011
    ..We sought to investigate whether differential branch pulmonary artery (BPA) regurgitation correlates with differences in BPA anatomy and physiology...
  32. doi request reprint Genetic testing in congenital heart disease: ethical considerations
    Kimberly Y Lin
    Department of Pediatrics, Division of Cardiology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    World J Pediatr Congenit Heart Surg 4:53-7. 2013
    ..Summarized here is the introductory presentation given by Dr Elizabeth Goldmuntz entitled "The Role of Genetic Testing in Congenital Heart Disease," followed by a case presentation given ..
  33. doi request reprint Habitual exercise correlates with exercise performance in patients with conotruncal abnormalities
    Michael L O'Byrne
    Division of Pediatric Cardiology, Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19147, USA
    Pediatr Cardiol 34:853-60. 2013
    ..The contribution of these factors to clinical outcomes deserves further study...
  34. pmc High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
    Tamim H Shaikh
    Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Genome Res 19:1682-90. 2009
    ..Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics...
  35. ncbi request reprint Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries)
    Nadja Muncke
    Institut fur Humangenetik, Universitat Heidelberg, Heidelberg, Germany
    Circulation 108:2843-50. 2003
    ..TGA represents a septation defect of the common outflow tract of the heart, manifesting around the fifth week during embryonic development. Despite its high prevalence, very little is known about the pathogenesis of this disease...
  36. ncbi request reprint Genetic counseling for congenital heart disease: new approaches for a new decade
    Katy Hoess
    Maloney 538, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA
    Curr Cardiol Rep 4:68-75. 2002
    ..The practicing cardiologist needs to continue to stay abreast of genetic discoveries in the field of CHD in order to provide proper management, including genetic counseling, to patients and their families...
  37. ncbi request reprint Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies
    Doff B McElhinney
    Cardiology, Children s Hospital of Philadelphia, Pennsylvania 19104 4318, USA
    Pediatrics 112:e472. 2003
    ..In addition, among patients with a VSD, it is not clear whether particular types of VSD or associated cardiovascular phenotypic features are associated with a chromosome 22q11 deletion...
  38. pmc Spectrum of heart disease associated with murine and human GATA4 mutation
    Satish K Rajagopal
    Department of Cardiology, Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
    J Mol Cell Cardiol 43:677-85. 2007
    ..Additional studies will be required to determine the degree to which GATA4 mutation contributes to human CHD characterized by ECD or RV hypoplasia...

Research Grants9

  1. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2003
    ..In addition, these investigations will lead to future studies that assess the relationship of genotype to clinical outcome, and allow us to improve upon our clinical management accordingly. ..
  2. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2004
    ..With this data, the impact of genotype on clinical outcome can be assessed and improved management strategies devised for the future. ..
  3. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2004
    ..In addition, these investigations will lead to future studies that assess the relationship of genotype to clinical outcome, and allow us to improve upon our clinical management accordingly. ..
  4. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2005
    ..In addition, these investigations will lead to future studies that assess the relationship of genotype to clinical outcome, and allow us to improve upon our clinical management accordingly. ..
  5. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2005
    ..With this data, the impact of genotype on clinical outcome can be assessed and improved management strategies devised for the future. ..
  6. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2006
    ..With this data, the impact of genotype on clinical outcome can be assessed and improved management strategies devised for the future. ..
  7. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2006
    ..In addition, these investigations will lead to future studies that assess the relationship of genotype to clinical outcome, and allow us to improve upon our clinical management accordingly. ..
  8. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2007
    ..With this data, the impact of genotype on clinical outcome can be assessed and improved management strategies devised for the future. ..
  9. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2007
    ..In addition, these investigations will lead to future studies that assess the relationship of genotype to clinical outcome, and allow us to improve upon our clinical management accordingly. ..