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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

Jin Sheng Chih, Homsy Jason, Zaidi Samir, Lu Qiongshi, Morton Sarah, DePalma Steven R, Zeng Xue, Qi Hongjian, Chang Weni, Sierant Michael C, Hung Wei-Chien, Haider Shozeb, Zhang Junhui, Knight James, Bjornson Robert D, Castaldi Christopher, Tikhonoa Irina R, Bilguvar Kaya, Mane Shrikant M, Sanders Stephan J, Mital Seema, Russell Mark W, Gaynor J William, Deanfield John, Giardini Alessandro, Porter George A, Srivastava Deepak, Lo Cecelia W, Shen Yufeng, Watkins W Scott, Yandell Mark, Yost H Joseph, Tristani-Firouzi Martin, Newburger Jane W, Roberts Amy E, Kim Richard, Zhao Hongyu, Kaltman Jonathan R, Goldmuntz Elizabeth, Chung Wendy K, Seidman Jonathan G, Gelb Bruce D, Seidman Christine E, Lifton Richard P, Brueckner Martina: Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature genetics 49(11): 1593-1601, Nov 2017.

Guo Tingwei, Repetto Gabriela M, McDonald McGinn Donna M, Chung Jonathan H, Nomaru Hiroko, Campbell Christopher L, Blonska Anna, Bassett Anne S, Chow Eva W C, Mlynarski Elisabeth E, Swillen Ann, Vermeesch Joris, Devriendt Koen, Gothelf Doron, Carmel Miri, Michaelovsky Elena, Schneider Maude, Eliez Stephan, Antonarakis Stylianos E, Coleman Karlene, Tomita-Mitchell Aoy, Mitchell Michael E, Digilio M Cristina, Dallapiccola Bruno, Marino Bruno, Philip Nicole, Busa Tiffany, Kushan-Wells Leila, Bearden Carrie E, Piotrowicz Małgorzata, Hawuła Wanda, Roberts Amy E, Tassone Flora, Simon Tony J, van Duin Esther D A, van Amelsvoort Thérèse A, Kates Wendy R, Zackai Elaine, Johnston H Richard, Cutler David J, Agopian A J, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Emanuel Beverly S, Morrow Bernice E: Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation. Cardiovascular genetics 10(5), Oct 2017.

Goldmuntz Elizabeth, Cassedy Amy, Mercer-Rosa Laura, Fogel Mark A, Paridon Stephen M, Marino Bradley S: Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot. The Journal of pediatrics 189: 162-168, Oct 2017.

Sullivan Kathleen E, Crowley T Blaine, Maurer Kelly, Goldmuntz Elizabeth, Gaynor J William, Zackai Elaine, McDonald-McGinn Donna: T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease. The journal of allergy and clinical immunology. In practice Sep 2017.

Bhatt Shivani M, Goldmuntz Elizabeth, Cassedy Amy, Marino Bradley S, Mercer-Rosa Laura: 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. Pediatric cardiology Aug 2017.

Kishi Takayuki, Rider Lisa G, Pak Katherine, Barillas-Arias Lilliana, Henrickson Michael, McCarthy Paul L, Shaham Bracha, Weiss Pamela F, Horkayne-Szakaly Iren, Targoff Ira N, Miller Frederick W, Mammen Andrew L: Association of Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Autoantibodies With DRB1*07:01 and Severe Myositis in Juvenile Myositis Patients. Arthritis care & research 69(7): 1088-1094, Jul 2017.

Agopian A J, Goldmuntz Elizabeth, Hakonarson Hakon, Sewda Anshuman, Taylor Deanne, Mitchell Laura E: Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circulation. Cardiovascular genetics 10(3): e001449, Jun 2017.

Londono-Obregon Camila, Goldmuntz Elizabeth, Davey Brooke T, Zhang Xuemei, Slap Gail B, Kim Yuli Y: Adult CHD: the ongoing need for physician counselling about heredity and contraceptive options. Cardiology in the young 27(4): 671-676, May 2017.

Anwar S, Harris MA, Whitehead KK, Keller MS, Goldmuntz E, Fogel MA, Mercer-Rosa L : The impact of the right ventricular outflow tract patch on right ventricular strain in Tetralogy of Fallot. A comparison with valvar pulmonary stenosis utilizing Cardiac magnetic resonance. Pediatr Cardiol 38(3): 617-623, Mar 2017.

O'Byrne Michael L, Desai Sanyukta, Lane Megan, McBride Michael, Paridon Stephen, Goldmuntz Elizabeth: Relationship Between Habitual Exercise and Performance on Cardiopulmonary Exercise Testing Differs Between Children With Single and Biventricular Circulations. Pediatric cardiology 38(3): 472-483, Mar 2017.

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Last updated: 11/13/2017
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