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

Fogel MA, Pawlowski T, Keller MS, Cohen MS, Goldmuntz E, Diaz L, Li C, Whitehead KK, Harrisa MA: The cardiovascular effects of obesity on ventricular function and mass in patients after Tetralogy of Fallot repair J Pediatr 167(2): 325-330, Aug 2015.

Avitabile CM, Goldberg DJ, Zemel BS, Brodsky JL, Dodds K, Hayden-Rush C, Whitehead KK, Goldmuntz E, Rychik J, Leonard MB: Deficits in bone density and structure in children and young adults following Fontan palliation. Bone 77: 12-6, Aug 2015.

Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium: Copy number variation of the glucose transporter gene SLC2A3 and Congenital heart defects in the 22q11.2 deletion syndrome. Am J Hum Genet 5(96): 753-64, May 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 8(1): 74-81, Feb 2015.

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.

Mitchell LE, Agopian AJ, Bhalla A, Glessner JT, Kim CE, Swartz MD, Hakonarson H, Goldmuntz E: Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations. Hum Mol Genet 24(1): 265-73, Jan 2015.

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, Chromosomal Disorders: 100–111, 2015 Notes: DOI: 10.1159/000375208.

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.

White PS, Xie HM, Werner P, Glessner J, Latney B, Hakonarson H, Goldmuntz E: Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions. Birth Defects Res A Clin Mol Teratol 100(12): 951-64, Dec 2014 Notes: [PubMed - in process]

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Last updated: 08/21/2015
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