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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

Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, 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, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium: Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet 135(3): 273-85, Mar 2016.

Werner P, Latney B, Deardorff MA, Goldmuntz E: MESP1 mutations in patients with congenital heart defects. Hum Mutat 37(3): 308-14, Mar 2016.

Bhatt SM, Cassedy A, Marino B, Goldmuntz E, Mercer-Rosa L: 199-Quality of life is diminished in patients with tetralogy of Fallot with mild residual disease: a comparison of tetralogy of Fallot and isolated valvar pulmonary stenosis. Presented at the ACC Scientific Sessions 2016, Chicago, IL March 2016.

Li Y, Yagi H, Onuoha EO, Damerla RR, Francis R, Furutani Y, Tariq M, King SM, Hendricks G, Cui C, Saydmohammed M, Lee DM, Zahid M, Sami I, Leatherbury L,Pazour GJ, Ware SM, Nakanishi T, Goldmuntz E, Tsang M, Lo CW: DNAH6 and its interactions with PCD genes in heterotaxy and primary ciliary dyskinesia. PLoS Genet 12(2), Feb 2016.

Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK: De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science 350(6265): 1262-6, Dec 2015.

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.

DiLorenzo MP, Wang Y, Goldmuntz E, Mercer-Rosa, L: Longitudinal assessment of right ventricular function by global longitudinal strain in patients with tetralogy of Fallot in the first 2 years following initial repair. Presented at the ASE Scientific Sessions 2015, Boston, MA June 2015.

Peyvandi S, Rychik J, Zhang X, Shea JA, Goldmuntz E: Preconceptual folic acid use and recurrence risk counseling for congenital heart disease. Congenit Heart Dis 10(3): 219-25, May-Jun 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.

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Last updated: 05/17/2016
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