Abramson Research Center, 702A Division of Cardiology The Children's Hospital of Philadelphia 3615 Civic Center Boulevard

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.

Dr. Goldmuntz studies the genetic basis of congenital heart disease and genetic variants that contribute to the risk of disease and clinical outcome.

Professor of Pediatrics at the Children's Hospital of Philadelphia (2013– present)
Assistant Professor of Pediatrics at University of Pennsylvania School of Medicine (1994 – 1997)
Assistant Professor of Pediatrics at the Children's Hospital of Philadelphia (1997 – 2004)
Associate Professor of Pediatrics at the Children's Hospital of Philadelphia (2004 – 2013)
M.D., University of Pennsylvania School of Medicine (1987)
B.A., History, Yale University (1983)
Selected Publications
O'Byrne ML, Mercer-Rosa L, Zhao H, Zhang X, Yang W, Cassedy A, Fogel MA, Rychik J, Tanel RE, Marino BS, Paridon S, Goldmuntz E.. Morbidity in children and adolescents after surgical correction of truncus arteriosus communis.. Am Heart J. Vol 166(3) . 2013 September:512-8.
Yi James J, Tang Sunny X, McDonald-McGinn Donna M, Calkins Monica E, Whinna Daneen A, Souders Margaret C, Zackai Elaine H, Goldmuntz Elizabeth, Gaynor James W, Gur Ruben C, Emanuel Beverly S, Gur Raquel E. Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2013 Nov.
Mercer-Rosa L, Pinto N, Yang W, Tanel R, Goldmuntz E. 22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot.. J Thorac Cardiovasc Surg.. Vol 146(4) . 2013 Oct:868-73.
Peyvandi S, Lupo P,Garbarini J, Woyciechowski S, Edman S, Emanuel B, Mitchell L, Goldmuntz E. 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1610 Consecutive Cases.. Pediatr Cardiol. Vol 34(7) . 2013 October:1687-94.
Mercer-Rosa L, Parnell A, Forfia PR, Yang W, Goldmuntz E, Kawut SM. Tricuspid Annular Plane Systolic Excursion in the Assessment of Right Ventricular Function in Children and Adolescents after Repair of Tetralogy of Fallot.. J Am Soc Echocardiogr. 2013 August.
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia M, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts A, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP.. De novo mutations in histone modifying genes in congenital heart disease.. Nature. Vol 498(7453) . 2013 Jun:220-3.
D'Alessandro L, Werner P, Xie H, Hakonarson H, White P, Goldmuntz E. The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.. Congenit Heart Dis. 2013 May.
John AS, Rychik J, Khan M, Yang W, Goldmuntz E.. 22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot.. Cardiol Young. Vol 10. 2013 Apr:1-8.