Associate Professor, Pediatrics, Perelman School of Medicine
Pediatric Cardiology
Dr. Elizabeth Goldmuntz, MD
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Elizabeth Goldmuntz works in the field of Pediatric Cardiology. He went to medical school at Perelman School of Medicine at the University of Pennsylvania. He received awards:"Fellow (FAAP)" and "Fellow (FACC)". Elizabeth Goldmuntz is a published doctor and has 95 publications published. The lastest was: 'Localization of the gene responsible for the op (osteopetrotic) defect in rats on chromosome 10.'
Publications
- MESP1 Mutations in Patients with Congenital Heart Defects.
- DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
- Procollagen type III amino-terminal propeptide: a serum biomarker of left ventricular remodelling in paediatric dilated Cardiomyopathy.
- Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
- Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
- Trends in pulmonary Valve replacement in children and adults with tetralogy of fallot.
- Analysis of chromosomal structural variation in patients with Congenital left-sided cardiac lesions.
- The Impact of Pulmonary Insufficiency on the Right Ventricle: A Comparison of Isolated Valvar Pulmonary Stenosis and Tetralogy of Fallot.
- Mutations in NTRK3 Suggest a Novel Signaling Pathway in Human Congenital Heart Disease.
- Lean mass deficits, vitamin D status and exercise capacity in children and young adults after Fontan palliation.
- CANOES: detecting rare copy number variants from whole exome sequencing data.
- Risk of congenital heart Disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families.
- 22q11.2 Deletion Syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction...
- Contribution of congenital heart Disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.
- Morbidity in Children and Adolescents After Surgical Correction of Interrupted Aortic Arch.
- Morbidity in children and adolescents after surgical correction of truncus arteriosus communis.
- Tricuspid Annular Plane Systolic Excursion in the Assessment of Right Ventricular Function in Children and Adolescents after Repair of Tetralogy of Fallot.
- The Prevalence of 16p12.1 Microdeletion in Patients with Left-sided Cardiac Lesions.
- De novo mutations in histone-modifying genes in congenital heart Disease.
- 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases.
- 22q11.2 deletion syndrome as a risk factor for Aortic root dilation in tetralogy of Fallot.
- Habitual exercise correlates with exercise performance in patients with conotruncal abnormalities.
- The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
- A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/Cardiomyopathy and features of branchio-oculo-facial syndrome.
- 22q11.2 Deletion Syndrome is associated with perioperative outcome in tetralogy of Fallot.
- Genome-wide association study of maternal and inherited Loci for conotruncal Heart defects.
- Localization of the gene responsible for the op (osteopetrotic) Defect in rats on chromosome 10.
- Genetic maps of polymorphic DNA loci on rat chromosome 1.
- Linkage maps of rat chromosomes 15, 16, 17, 19, and X.
- The origin of the autoimmune Disease-resistant LER rat: an outcross between the buffalo and autoimmune Disease-prone Lewis inbred rat strains.
- Linkage map of 10 polymorphic markers on rat chromosome 2.
- Map of seven polymorphic markers on rat chromosome 14: linkage conservation with human chromosome 4.
- Genetic mapping of the athymic nude (RNU) locus in the rat to a region on chromosome 10.
- Linkage map of nine loci defined by polymorphic DNA markers assigned to rat chromosome 13.
- Simple sequence repeat length polymorphisms mapped to rat chromosome 11.
- Four polymorphic markers on rat chromosome 12 form a single linkage group.
- Genetic map of 12 polymorphic loci on rat chromosome 1.
- Linkage map of seven polymorphic markers on rat chromosome 18.
- A single linkage group comprising 11 polymorphic DNA markers on rat chromosome 3.
- Genetic map of eight microsatellite markers comprising two linkage groups on rat chromosome 6.
- Nine polymorphic markers characterized by polymerase chain reaction techniques form two linkage groups on rat chromosome 8.
- Genetic map of seven polymorphic markers comprising a single linkage group on rat chromosome 5.
- Ten polymorphic DNA loci, including five in the rat MHC (RT1) region, form a single linkage group on rat chromosome 20.
- A genetic map of microsatellite markers on rat chromosome 7.
- Genetic map of 16 polymorphic markers forming three linkage groups assigned to rat chromosome 4.
- The rat athymic nude (rnu) locus is closely linked to the inducible nitric oxide synthase gene (Nos2).
- Prazosin treatment suppresses increased vascular permeability in both acute and passively transferred experimental autoimmune encephalomyelitis in the Lewis rat.
- Astrocytic reactivity and intermediate filament metabolism in experimental autoimmune encephalomyelitis: the effect of suppression with prazosin.
- Prazosin treatment during the effector stage of Disease suppresses experimental autoimmune encephalomyelitis in the Lewis rat.
- Prazosin, an alpha 1-adrenergic receptor antagonist, suppresses experimental autoimmune encephalomyelitis in the Lewis rat.
- Mechanisms and suppression of inflammatory demyelination.
- The effect of norepinephrine on endotoxin-mediated macrophage activation.
- Genetic map of nine polymorphic loci comprising a single linkage group on rat chromosome 10: evidence for linkage conservation with human chromosome 17 and mouse chrom...
- Local secretion of corticotropin-releasing hormone in the joints of Lewis rats with inflammatory arthritis.
- Evaluating the role of connexin43 in congenital heart Disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models.
- Microdeletions and microduplications in patients with congenital heart Disease and multiple congenital anomalies.
- Evaluation of heterogeneity in the association between Congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects.
- Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion Syndrome patients.
- Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle.
- Differential branch Pulmonary artery regurgitant fraction is a function of differential Pulmonary arterial anatomy and Pulmonary vascular resistance.
- NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac Defects.
- Clinical research careers: reports from a NHLBI pediatric Heart network clinical research skills development conference.
- Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
- Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal Heart defects.
- Variants of folate metabolism genes and the risk of conotruncal cardiac Defects.
- Deletion of ETS-1, a gene in the Jacobsen Syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.
- Variants of folate metabolism genes and risk of left-sided cardiac Defects.
- High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
- Cumulative ligand activity of NODAL mutations and modifiers are linked to human Heart defects and holoprosencephaly.
- Images in cardiovascular medicine. Partial anomalous left Pulmonary artery.
- Aortic root dilation in patients with 22q11.2 deletion syndrome.
- Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion Syndrome.
- Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma.
- Adults with genetic Syndromes and cardiovascular abnormalities: clinical history and management.
- Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
- Spectrum of heart Disease associated with murine and human GATA4 mutation.
- Genetic basis for Congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council...
- The cardiovascular manifestations of Alagille Syndrome and JAGI mutations.
- Cardiac magnetic resonance imaging for accurate diagnosis of Aortic arch anomalies in patients with 22q11.2 deletion.
- DiGeorge Syndrome: new insights.
- Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
- The 22q11.2 deletion in African-American patients: an underdiagnosed population?
- The genetic contribution to congenital heart Disease.
- Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
- Chromosome 22q11 deletion in patients with ventricular Septal defect: frequency and associated cardiovascular anomalies.
- Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with Congenital heart defect (transposition of the great arteries).
- NKX2.5 mutations in patients with congenital heart Disease.
- Association between cardiac tumors and tuberous sclerosis in the fetus and neonate.
- Missense mutations in CRELD1 are associated with cardiac atrioventricular Septal defects.
- Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down Syndrome.
- Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille Syndrome.
- Chromosomal and cardiovascular anomalies associated with Congenital laryngeal web.
- CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
- Genetic counseling for congenital heart Disease: new approaches for a new decade.
Schools
University Of Pennsylvania School Of Medicine
Chldns Hospital Of Philadelphia
Procedures Preformed
- Cardiac Imaging
- Chest CT (incl. Heart and Lungs)
Conditions Treated
- Aortic Aneurysm
- Aortic Ectasia
- Aortic Valve Disease
- Arrhythmias (incl. Atrial Fibrillation)
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Doctors Specialties
- Pediatric Cardiology
Accepted Insurances
- Aetna
- Amerigroup (Wellpoint)
- Local Value Network EPO
- Local Value Network HMO
- Local Value Network HMO+
- Local Value Network POS+
- Local Value Network PPO
- Personal Choice PPO
- Regional Pref Network EPO
- Regional Pref Network HMO
- Regional Pref Network HMO+
- Regional Pref Network POS+
- Regional Pref Network PPO
- Blue Card PPO
- Cigna
- Commercial Insurance Company
- Coventry Health America PPO
- Coventry Health Care of Delaware PPO
- First Health (Coventry Health Care) PPO
- Geisinger Health Plan
- HealthPartners
- Community Blue PPO
- Advance EPO
- Direct Access
- Horizon Blue Cross Blue Shield HMO
- Horizon Blue Cross Blue Shield POS
- Horizon Blue Cross Blue Shield PPO
- Choice Care PPO
- Keystone Health Plan East HMO
- MagnaCare
- Medicaid
- Medicare MCR
- MultiPlan PPO
- Freedom Plan
- QualCare HMO
- QualCare PPO
- Tricare
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- Oxford Liberty
- United Healthcare
Awards
- Fellow (FAAP)
- Fellow (FACC)
Education
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Children's Hospital of Philadelphia -
Perelman School of Medicine at the University of Pennsylvania
Hospital
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Abington Hospital - Jefferson Health -
Hospital of the University of Pennsylvania -
Pennsylvania Hospital
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