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Elizabeth Goldmuntz, MD, MSHP, FAAP, FACC

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

Golmuntz E, Mitchell LE: Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox. Circ Genom Precis Med Aug 2022 Notes: https://doi.org/10.1161/CIRCGEN.122.003868.

DiLorenzo M, DeCost G,Mai A,Hughes N,Goldmuntz E,Jones A,Fogel M,Mercer Rosa L: Comparison of serum biomarkers of myocardial fibrosis with cardiac magnetic resonance in patients operated for tetralogy of Fallot. Int J Cardiol 1(358): 27-33, July 2022.

Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA Jr, Seidman JG, Seidman CE. : Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. Am J Hum Genet. 109(5): 961-966, May 2022.

Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL. : Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort. Genet Med. 24(5): 1045-1053, May 2022.

Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE.: Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circ Genom Precis Med. 15(2), Apr 2022.

Musfee FI, Oluwafemi OO, Agopian AJ, Hakonarson H, Goldmuntz E, Mitchell LE.: Maternal effect genes as risk factors for congenital heart defects. HGG Adv. 3(2), March 2022.

Woodward AA, Taylor DM, Goldmuntz E, Mitchell LE, Agopian AJ, Moore JH, Urbanowicz RJ.: Gene-Interaction-Sensitive enrichment analysis in congenital heart disease. BioData Min. 15(1), Feb 2022.

Škorić-Milosavljević D, Tadros R, Bosada FM, Tessadori F, van Weerd JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ, Agopian AJ, Blue GM, Barge-Schaapveld DQCM, Gewillig M, Preuss C, Lodder EM, Barnett P, Ilgun A, Beekman L, van Duijvenboden K, Bokenkamp R, Müller-Nurasyid M; KORA-Study Group, Vliegen HW, Konings TC, van Melle JP, van Dijk APJ, van Kimmenade RRJ, Roos-Hesselink JW, Sieswerda GT, Meijboom F, Abdul-Khaliq H, Berger F, Dittrich S, Hitz MP, Moosmann J, Riede FT, Schubert S, Galan P, Lathrop M, Munter HM, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Evans S, Nobrega MA, Aneas I, Radivojkov-Blagojević M, Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Bouma BJ, Chaix MA, Kline J, Bassett AS, Andelfinger G, van der Palen RLF, Bouvagnet P, Clur SB, Breckpot J, Kerstjens-Frederikse WS, Winlaw DS, Bauer UMM, Mital S, Goldmuntz E, Keavney B, Bonnet D, Mulder BJ, Tanck MWT, Bakkers J, Christoffels VM, Boogerd CJ, Postma AV, Bezzina CR.: Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries. Circ Res. 130(2): 166-180, Jan 2022.

Srinivasan R, Faerber JA, DeCost G, Zhang X, DiLorenzo M, Goldmuntz E, Fogel M, Mercer-Rosa L.: Right Ventricular Strain Is Associated With Increased Length of Stay After Tetralogy of Fallot Repair. J Cardiovasc Imaging. 30(1): 50-58, Jan 2022.

Goldmuntz E, Faerber J, Donnelly E, Zhang X, Mercer Rosa LM, Paridon S, McBride M, Mahmood A, Whitehead K, Harris M, Partington S, Biko D, Ferrari V, Reddy K: True Prediction Model Of Clinical Outcome In Tetralogy Of Fallot Using Contraction Fraction. Single Center Cardiac Magnetic Resonance Outcomes Registry In Tetralogy Of Fallot 2022.

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Last updated: 08/10/2022
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