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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

DiLorenzo MP, Goldmuntz E, Nicolson SC, Fogel MA, Mercer-Rosa L: Early Post-Operative Hemodynamic Profile Following Repair of Tetralogy of Fallot by Unsedated Cardiac MRI Using the Feed and Sleep Technique. Pediatr Cardiol 2018 Notes: in press.

Mercer-Rosa L, Goldmuntz E, Fogel MA, Rychik J, Paridon SA: Revisiting the End-Diastolic Forward Flow (Restrictive Physiology) in Tetralogy of Fallot: An Exercise, Echocardiographic and Magnetic Resonance Study. J Am Coll Cardiol 2018 Notes: in press.

Manheimer K, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC< Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung W, Seidman CE, Seidman JG, Gelb B: Robust identification of mosaic variants in congenital heart disease. Hum Genet 2018 Notes: in press.

O'Byrne ML, Goldmuntz E, Paridon SM, McBride MG: Association of Habitual Activity and Body Mass Index in Survivors of Congenital Heart Surgery: A study of children and adolescents with tetralogy of Fallot, transposition of the great Arteries, and Fontan palliation World J Pediatr Congenit Heart Surg 2018 Notes: in press.

Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M: Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 49(11): 1593-1601, Nov 2017.

Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawuła W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE: 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. Circ Cardiovasc Genet 10(5), Oct 2017.

Goldmuntz E, Cassedy A, Mercer-Rosa L, Fogel MA, Paridon SM, Marino BS: Exercise Performance and 22q11.2 Deletion Status Affect Quality of Life in Tetralogy of Fallot. J Pediatr 189: 162-168, Oct 2017.

Sullivan KE, Crowley TB, Maurer K, Goldmuntz E, Gaynor JW, Zackai E, McDonald-McGinn D: T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease. J Allergy Clin Immunol Pract Sep 2017.

Bhatt SM, Goldmuntz E, Cassedy A, Marino BS, Mercer-Rosa L: 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. Pediatr Cardiol Aug 2017.

Agopian AJ, Goldmuntz E, Hakonarson H, Sewda A, Taylor D, Mitchell L, Pediatric Cardiac Genetics Consortium: Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovas Genet 10(3): e001449, Jun 2017.

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Last updated: 01/30/2018
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