Elizabeth Goldmuntz, BA, MD
Associate Professor of Pediatrics at the Children's Hospital of Philadelphia
Department: Pediatrics
Contact information
Abramson Research Center, 702A
Division of Cardiology
Children's Hospital of Philadelphia
3615 Civic Center Boulevard
Philadelphia, PA 19104-4318
Division of Cardiology
Children's Hospital of Philadelphia
3615 Civic Center Boulevard
Philadelphia, PA 19104-4318
Office: 215-590-5820
Fax: 215-590-5454
Fax: 215-590-5454
Email:
goldmuntz@email.chop.edu
goldmuntz@email.chop.edu
Publications
Education:
B.A. (History)
Yale University, 1983.
M.D.
University of Pennsylvania School of Medicine, 1987.
Permanent linkB.A. (History)
Yale University, 1983.
M.D.
University of Pennsylvania School of Medicine, 1987.
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
Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH: Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis 6(6): 592-602, November 2011.D’Alessandro LCA, Latney BC, Paluru PC, Goldmuntz E.: A subset of patients with isolated transposition of the great arteries and double outlet right ventricle fall within the spectrum of heterotaxy syndrome. Presented at the American Heart Association Scientific Sessions 2011, Orlando, FL November 2011.
Fung A, Manlhiot C, Tierney S, Reddy S, Chung W, Blume E, Kaufman B, Goldmuntz E, Colan S, Mital S.: Adrenergic receptor genotype is associated with ventricular dysfunction and β-blocker response in children with dilated cardiomyopathy. Presented at the American Heart Association Scientific Sessions 2011, Orlando, FL, November 2011.
Guo T, McGinn DM, Blonska A, Shanske A, Bassett A, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B, the International Chromosome 22q11.2 Consortium: Genotype and cardiovascular phenotype correlations with TBX1 in 1.022 velo-cardio-facial/DiGeorge/22q11.2 Deletion Syndrome patient. Hum Mut 32(11): 1278-1289, November 2011.
Long J, Lupo PJ, Goldmuntz E, Mitchell LE: Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects. Birth Defects Res A Clin Mol Teratol 91(10): 879-884, October 2011.
Huang GY, Xie LJ, Linask KL, Zhang C, Zhao XQ, Yang Y, Zhou GM, Wu YJ, Marquez-Rosado L, McElhinney DB, Goldmuntz E, Liu C, Lampe PD, Chatterjee B, Lo CW: Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knockin mouse models. J Cardiovasc Dis Res 2(4): 206-212, October 2011.
Peyvandi S, Garbarini J, Woyciechowski S, Emanuel BS, Goldmuntz E. : Aortic arch anatomy helps identify the fetus at-risk for a chromosome 22q11.2 deletion. Presented at the International Society of Ultrasound in Obstetrics and Gynecology 21st World Congress, Los Angeles, CA September 2011.
Harris MA, Whitehead KK, Gillespie MJ, Liu TY, Cosulich MT, Shin DC, Goldmuntz E, Weinberg PM, Fogel MA: Differential branch pulmonary artery regurgitant fraction is a function of differential pulmonary arterial anatomy and pulmonary vascular resistance. J Am Coll Cardiol Img 4: 506-513, May 2011.
Mital S, Chung WK, Colan SD, Sleeper LA, Manlhiot C, Arrington CB, Cnota JF, Graham EM, Mitchell ME, Goldmuntz E, Li JS, Levine JC, Lee TM, Margossian R, Hsu DT on behalf of the Pediatric Heart Network Investigators: Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. Circulation 123: 2353-2362, May 2011.
Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D’Arcy M, O’Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS: Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry March 2011 Notes: E pub ahead of print.