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.
- Associate Professor of Pediatrics at the Children's Hospital of Philadelphia (2004 – 2013)
- 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)
- M.D., University of Pennsylvania School of Medicine (1987)
- B.A., History, Yale University (1983)
- 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. 2013 July.
- 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. 2013 Jan.
- 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. 2013.
- 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 March.
- 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.
- D'Alessandro LC, Latney BC, Paluru PC, Goldmuntz E. The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.. Am J Med Genet A. Vol 161(4) . 2013 Apr:792-802.
- Avitable C, Brodsky J, Leonard M, Dodds K, Hayden-Rush C, Goldmuntz E, Rychik J, Goldberg D.. Abnormalities in Bone Density, Bone Structure, and Muscle Cross-Sectional Area After Fontan Palliation.. Presented at the ACC Scientific Session 2013, San Francisco, CA.. 2013 March.
- Peyvandi S, Ingall E, Woyciechowski S, Garbarini, Mitchell L, Goldmuntz E.. Risk of Congenital Heart Disease in Relatives of Probands with Contruncal Cardiac Defects: An Evaluation of 1622 Families.. Presented at the ACC Scientific Session 2013, San Francisco, CA.. 2013 March.