Elizabeth Goldmuntz, MD, FAAP, FACC

Attending Cardiologist

Associate Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania


Phi Beta Kappa, Yale University

Ann Newman Fellowship in Advanced Pediatric Cardiology, The Children's Hospital of Philadelphia

Young Investigator Award, Cardiology section of the American Academy of Pediatrics

Leonard N. Horowitz, MD, Research Award, sponsored by the Southeastern Pennsylvania Affiliate of the American Heart Association


Fellow, American Academy of Pediatrics

Fellow, American College of Cardiology

American Heart Association, Council for Cardiovascular Disease in the Young

American Society of Human Genetics

American Society of Echocardiography

Original Papers

Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat. 2010 May;31(5):594-601. Read abstract



Goldmuntz E, Driscoll DA, Emanuel BS, McDonald-McGinn D, Mei M, Zackai E, Mitchell LE. Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):125-9.

Hobbie WL, Moshang T, Carlson CA, Goldmuntz E, Sacks N, Goldfarb SB, Grupp SA, Ginsberg JP. Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma. Pediatr Blood Cancer. 2008 Jul 11.

Chin AJ, Stephens P, Goldmuntz E, Leonard MB. Serum Alkaline Phosphatase Reflects Post-Fontan Hemodynamics in Children. Pediatr Cardiol. 2008 Aug 7.

Goldmuntz E, Woyciechowski S, Renstrom D, Lupo PJ, Mitchell LE. Variants of folate metabolism genes and the risk of conotruncal cardiac defects. Circ Cardiovasc Genet. 2008 Dec;1(2):126-32. Epub 2008 Dec 9. Read abstract

Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E. GATA4 Sequence Variants in Congenital Heart Disease Patients. J Med Genet 44(12):779-783, 2007.

Rajagopal SK, Ma Q, Obler D, Shen J, Manichakul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson W, Smoot LB, Tswenching P. Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol 43(6):677-685, 2007.

Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M. Loss-of-function mutations in Growth Development Factor - 1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 81(5):987-994, 2007.

Johnson TR, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Fogel MA. Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion. Am J Cardiol 96:1726-1730, 2005.

Lambrechts D, Devriendt K, Driscoll DA, Goldmuntz E, Gewillig M, Vlietinck R, Collen D, Carmeliet P. Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. J Med Genet 42:519-522, 2005.

Muncke N, Niesler B, Roeth R, Schoen K, Heinz-Juergen R, Goldmuntz E, Goodship J, Rappold G. Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA). BMC Medical Genetics 6:20, 2005.

McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, Jawad A, Tonnesen MK, Catanzaro JR, Goldmuntz E, Driscoll D, LaRossa D, Emanuel BS, Zackai EH. The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet 134A:242-246, 2005.


Lupo PJ, Goldmuntz E, Mitchell LE. Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects. J Biomed Biotechnol. 2010;2010:630940. Epub 2010 Jan 12. Read abstract.

Collins RT 2nd, Weinberg PM, Goldmuntz E, Harris M. Images in cardiovascular medicine. Partial anomalous left pulmonary artery. Circulation. 2009 May 5;119(17):2405-7.

Posters and Presentations

November 2001

Cryptic mutations in congenital heard disease. 74th Sessions of the American Hear Association, Anaheim, Calif.

October 2001

Genetic syndromes and congenital heart disease. Pediatric Refresher Course, The Children's Hospital of Philadelphia, Philadelphia, Pa.



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Goldmuntz, Elizabeth