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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
B.A. (History)
Yale University, 1983.
University of Pennsylvania School of Medicine, 1987.
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> Perelman School of Medicine   > Faculty   > Details

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, Micolson SC, Fogel MA, Mercer-Rosa L: Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study. Cardiol Young May 2018.

DiLorenzo MP, Elci OU, Wang Y, Banerjee A, Sato T, Ky B, Goldmuntz E, Mercer-Rosa L: Longitudinal Changes in Right Ventricular Function in Tetralogy of Fallot in the Initial Years after Surgical Repair. J Am Soc Echocardiogr Apr 2018.

Unolt M, Versacci P, Anaclerio S, Lambiase C, Calcagni G, Trzzi M, carotti A, Crowley TB, Zackai EH, Goldmuntz E, Gaynor JW, Digilio MC, McDonald-McGinn DM, Marino B: Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers. Am J Med Genet A Apr 2018.

O'Byrne ML, McBride MG, Paridon S, Goldmuntz E : 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 Mar 2018.

Mercer-Rosa L, Elci OU, Pinto NM, Tanel RE, Goldmuntz E : 22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels. Pediatr Cardiol Mar 2018.

Mercer-Rosa L, Fogel MA, Paridon SM, Rychik J, Yang W, Goldmuntz E: Revisiting the End-Diastolic Forward Flow (Restrictive Physiology) in Tetralogy of Fallot: An Exercise, Echocardiographic and Magnetic Resonance Study. JACC Cardiovasc Imaging Mar 2018.

Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Gelb BD, Sharp AJ: Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Hum Mutat Mar 2018.

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.

Bhatt SM, Elci OU, Wang Y, Goldmuntz E, McBride M, Parison S, Mercer-Rosa L: Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography. Pediatr Cardiol 2018 Notes: in press.

Rayannavar A, Katz L, Crowley T, Lessig M, Grand K, Goldmuntz E, Zackai E, McGinn D : Association of Hypocalcemia with Congenital Heart Disease in 22q11.2 Deletion Syndrome. Am J Med Genet A 2018 Notes: in press.

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Last updated: 08/28/2018
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