Elizabeth Goldmuntz
Professor of Pediatrics (Cardiology) at the Children's Hospital of Philadelphia
Consultant, Pennsylvania Hospital
Associate Chief Clinical Research Officer, 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
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
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.
B.A. (History)
Yale University, 1983.
M.D.
University of Pennsylvania School of Medicine, 1987.
Post-Graduate Training
Resident in Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, 1987-1990.
Fellow in Pediatric Cardiology, The Children’s Hospital of Philadelphia, Philadelphia, 1990-1993.
Research Fellow in Pediatric Cardiology, The Children's Hospital of Philadelphia, Philadelphia, 1993-1994.
Permanent linkResident in Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, 1987-1990.
Fellow in Pediatric Cardiology, The Children’s Hospital of Philadelphia, Philadelphia, 1990-1993.
Research Fellow in Pediatric Cardiology, The Children's Hospital of Philadelphia, Philadelphia, 1993-1994.
Description of Itmat Expertise
Dr. Goldmuntz studies the genetic basis of congenital heart disease and genetic variants that contribute to the risk of disease and clinical outcome.Selected Publications
Britt A., Vossough A., Pukenas B.A., Borst A.B., Goldmuntz E., Storm P.B., Beslow L.A.: Spinal AVM and de novo AVM in a child with an ENG variant. HHT International Expert Case Conference: Spinal AVMs: An Advanced Management Forum for HHT Clinical Cases. Mar 2024.Miller, T.A., Hernandez, E.J., Gaynor, J.W., Russell, M.W., Newburger, J.W., Chung, W., Goldmuntz, E., Cnota, J.F., Zyblewski, S.C., Mahle, W.T., Zak, V., Ravishankar, C., Kaltman, J.R., McCrindle, B.W., Clarke, S., Votava-Smith, J.K., Graham, E.M., Rudd, N., Bernstein, D., Lee, T.M., Yandell, M., Tristani-Firouzi, M.: Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease. Commun Med 3(127), Sep 2023.
Jones AL, Faerber J, Huang J, Ampah S, Wang Y, DeCost G, Gardner M, Naim MY, Reddy S, Goldmuntz E, Mercer-Rosa L.: Biomarkers, Socioeconomic Factors, and Right Ventricular Function After Surgical Repair for Tetralogy of Fallot. Pediatr Cardiol. 44(6): 1232-1241, Aug 2023 Notes: Epub Feb 16 2023.
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Zackai E, Johnston HR, Chow EWC, Vorstman JA, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MB, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE: Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease. NPJ Genom Med. 8(1): 17, Jul 2023 Notes: doi:10.1101/2022.09.30.507111.
Yu M, Aguirre M, Jia M, Gjoni K, Cordova-Palomera A, Munger C, Amgalan D, Rosa Ma X, Pereira A, Tcheandjieu C, Seidman C, Seidman J, Tristani-Firouzi M, Chung W, Goldmuntz E, Srivastava D, Loos RJF, Chami N, Cordell H, Dreßen M, Mueller-Myhsok B, Lahm H, Krane M, Pollard KS, Engreitz JM, Gagliano Taliun SA, Gelb BD, Priest JR.: Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. Circ Genom Precis Med. 16(3): 258-266, Jun 2023 Notes: Epub 2023 Apr 7.
Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG.: Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med. 16(3): 224-231, Jun 2023 Notes: Epub 2023 May 11.
Lewis MJ, Hsieh A, Qiao L, Tan R, Kazzi B, Channing A, Griffin EL, Jobanputra V, Su J, Shahryar C, Kochilas L, Gaynor JW, Lee T, Goldmuntz E, Russell M, Mital S, Tristani M, Brueckner M, Newburger J, Shen Y, Chung WK.: Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. Circ Genom Precis Med. 16(2): e003900, Apr 2023.
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK.: Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circ Genom Precis Med Page: e003791, Feb 2023.
Morton SU, Norris-Brilliant A, Cunningham S, King E, Goldmuntz E, Brueckner M, Miller TA, Thomas NH, Liu C, Adams HR, Bellinger DC, Cleveland J, Cnota JF, Dale AM, Frommelt M, Gelb BD, Grant PE, Goldberg CS, Huang H, Kuperman JM, Li JS, McQuillen PS, Panigrahy A, Porter GA Jr, Roberts AE, Russell MW, Seidman CE, Tivarus ME, Anagnoustou E, Hagler DJ Jr, Chung WK, Newburger JW.: Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. JAMA Netw Open. 6(1): e2253191, Jan 2023.
Ron HA, Crowley TB, Liu Y, Unolt M, Schindewolf E, Moldenhauer J, Rychik J, Goldmuntz E, Emanuel BS, Ryba D, Gaynor JW, Zackai EH, Hakonarson H, McDonald-McGinn DM.: Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study. Genes. 14(1): 62, Dec 2022.