Elizabeth Goldmuntz

faculty photo
Professor of Pediatrics at the Children's Hospital of Philadelphia
Consultant, Pennsylvania Hospital
Department: Pediatrics

Contact information
Abramson Research Center, 702A
Division of Cardiology
The Children's Hospital of Philadelphia
3615 Civic Center Boulevard
Philadelphia, PA 19104-4318
Office: 215-590-5820
Fax: 215-590-5454
B.A. (History)
Yale University, 1983.
University of Pennsylvania School of Medicine, 1987.
Permanent link

Description of Itmat Expertise

Dr. Goldmuntz studies the genetic basis of congenital heart disease and genetic variants that contribute to the risk of disease and clinical outcome.

Selected Publications

Racedo S, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou1 B, Funke B, Morrow BE: Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet 5(96): 235-44, Feb 2015.

Mercer-Rosa L, Paridon SM, Fogel MA, Rychik J, Tanel RE, Zhao H, Zhang X, Yang W, Shults J, Goldmuntz E: 22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot. Circ Cardiovasc Genet Jan 2015 Notes: [Epub ahead of print]

O'Byrne ML, Glatz AC, Mercer-Rosa L, Gillespie MJ, Dori Y, Goldmuntz E, Kawut S, Rome JJ: Trends in pulmonary valve replacement in children and adults with tetralogy of Fallot. Am J Cardiol 115(1): 118-24, Jan 2015.

Goldmuntz, E: The 22q11.2 deletion syndrome. Congenital Heart Disease: Molecular Genetics, Principles of Diagnosis and Treatment. Muenke M, Kruszka PS, Sable CA, Belmont JW (eds.). Basel, Karger, Page: 100–111, 2015 Notes: In Press.

Goldmuntz E, Crenshaw M: Genetic aspects of congenital heart defects. Moss & Adams' Heart Disease in Infants, Children, and Adolescents Allen, Driscoll, Shaddy, Feltes (eds.). Lippincott Williams & Wilkins 2015 Notes: In Press.

Mlynarski E, Sheridan M, Xie M, Guo T, Racedo S, McDonald-McGinn D, Gai X, Chow E, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Roberts A, Simon T, Piotrowicz M, Bearden C, Eliez S, Doron G, Coleman K, Kates W, Devoto M, Zackai E, Heine-Suñer D, Shaikh T, Bassett A, Goldmuntz E, Morrow B: Copy number variation of the glucose transporter gene SLC2A3 and Congenital heart defects in the 22q11.2 deletion syndrome. Am J Hum Genet 2015 Notes: In Press.

Mercer-Rosa L, Ingall E, Zhang X, McBride M, Kawut S, Fogel M, Paridon S, Goldmuntz E: The impact of pulmonary insufficiency on the right ventricle: A comparison of isolated valvar pulmonary stenosis and tetralogy of Fallot. Pediatr Cardiol Dec 2014.

Lin KY, Freedman JL, Ginsberg J, Goldmuntz E, Shaddy RE: Cardiac biomarkers are elevated in children during chemotherapy regardless of anthracycline status. Presented at the American Heart Association Scientific Sessions 2014, Chicago, IL Nov 2014.

Natarajan SS, Glatz AC, Goldmuntz E, Cohen MS: Abnormal aortic wall properties in children with isolated bicuspid aortic valve. Presented at the American Heart Association Scientific Sessions 2014, Chicago, IL Nov 2014.

Reddy S, Fung A, Manlhiot C, Selamet Tierney ES, Chung WK, Blume E, Kaufman BD, Goldmuntz E, Colan S, Mital S: Adrenergic receptor genotype influences heart failure severity and β-blocker response in children with dilated cardiomyopathy. Pediatr Res Nov 2014 Notes: [Epub ahead of print]

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Last updated: 04/14/2015
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