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
Education:
B.A. (History)
Yale University, 1983.
M.D.
University of Pennsylvania School of Medicine, 1987.
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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

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.

Glessner J, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika EJ, Vardarajan B, Italia MJ, Leipzig J, DePalma S, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman JG, Hakonarson H, Chung WK: Increased frequency of de novo copy number variations in congenital heart disease by integrative analysis of SNP array and exome sequence data. Circ Res Sept 2014 Notes: [Epub ahead of print]

Werner P, Paluru P, Simpson AM, Latney B, Iyer R, Brodeur GM, Goldmuntz E: Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease. Hum Mutat Sep 2014 Notes: [Epub ahead of print]

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 Aug 2014 Notes: [Epub ahead of print]

Avitabile CM, Leonard MB, Zemel BS, Brodsky JL, Lee D, Dodds K, Hayden-Rush C, Whitehead KK, Goldmuntz E, Paridon SM, Rychik J, Goldberg DJ: Lean mass deficits, vitamin D status, and exercise capacity in children and young adults after Fontan palliation. Heart Jun 2014 Notes: [Epub ahead of print]

Peyvandi S, Ingall E, Woyciechowski S, Garbarini J, Mitchell LE, Goldmuntz E: Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families. Am J Med Genet A 164A(6): 1490-5, Jun 2014.

Agopian AJ, Mitchell LE, Glessner J, Bhalla AD, Sewda A, Hakonarson H, Goldmuntz E: Genome-wide association study identifies maternal and inherited candidate loci for conotruncal heart defects. Plos One 9(5): e96057, May 2014.

Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK, Shen Y: CANOES: Detecting rare copy number variants from whole exome sequencing data. Nucleic Acids Res 42(12): e97, Apr 2014.

Yi JJ, Tang SX, McDonald-McGinn DM, Calkins ME, Whinna DA, Souders MC, Zackai EH, Goldmuntz E, Gaynor JW, Gur RC, Emanuel BS, Gur RE: Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet 165B(2): 137-47, Mar 2014.

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Last updated: 09/23/2014
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