Penn Cardiovascular Institute

Penn Cardiovascular Institute Research Directory

faculty photo

Elizabeth Goldmuntz, BA, MD

Professor of Pediatrics at the Children's Hospital of Philadelphia
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
> Perelman School of Medicine   > Faculty   > Details

Description of CVI Expertise

CVI Program Unit(s):
Cardiovascular Development / Congenital Heart Disease
Myocyte Biology / Heart Failure

CVI Research Description:
My research focuses on the genetic basis and modifiers of congenital heart disease, cardiomyopathy and heart failure. We have ascertained a large cohort of patients with congenital heart defects with particular emphasis on patients with conotruncal or left sided defects. Our goal is to identify genetic alterations conferring a risk for CHD and to correlate these findings with clinical outcome. To this end, we are also performing clinical translational studies.

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, 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: 05/28/2015
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