Penn Cardiovascular Institute

Penn Cardiovascular Institute Research Directory

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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

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 164(6): 1490-5, Jun 2014 Notes: [Epub ahead of print]

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 Apr 2014 Notes: [Epub ahead of print]

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.

Mercer-Rosa L, Fogel M, Paridon S, Rychik J, Yang W, Goldmuntz E : Right ventricular restrictive physiology is associated with exercise performance and Pulmonary Insufficiency: A cross sectional study of echocardiogram, cardiac magnetic resonance and exercise performance in repaired tetralogy of Fallot. Presented at the ACC Scientific Sessions 2014, Washington, DC Mar 2014.

O'Byrne ML, Mercer-Rosa L, Zhao H, Zhang X, Yang W, Tanel RE, Marino BS, Cassedy A, Fogel MA, Rychik J, Paridon S, Goldmuntz E: Morbidity in children and adolescents after surgical correction of interrupted aortic arch. Pediatr Cardiol 35(3): 386-92, Mar 2014.

O'Byrne ML, Yang W, Mercer-Rosa L, Parnell AS, Oster ME, Levenbrown Y, Tanel RE, Goldmuntz E: 22q11.2 deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of Truncus Arteriosus Communis or Interrupted Aortic Arch. Presented at the Cardiology Scientific Sessions 2014, Orlando, FL Feb 2014.

O'Byrne ML, Yang W, Mercer-Rosa L, Parnell AS, Oster ME, Levenbrown Y, Tanel RE, Goldmuntz E: 22q11.2 deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of Truncus Arteriosus Communis or Interrupted aortic arch. J Thorac Cardiovasc Surg pii: S0022-5223(14): 00167-6, Feb 2014 Notes: [Epub ahead of print]

D'Alessandro L, Werner P, Xie H, Hakonarson H, White P, Goldmuntz E: The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. Congenit Heart Dis 9(1): 83-6, Jan-Feb 2014.

Agopian AJ, Mitchell L, Glessner J, Bhalla AD, Sewda A, Hakonarson H, Goldmuntz E, Kim C, Swartz M: Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations. Hum Mol Genet 2014 Notes: Submitted: Manuscript ID HMG-2014-ASA-00606.R1.

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Last updated: 07/17/2014
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