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.
Anwar S, Harris MA, Whitehead KK, Keller MS, Goldmuntz E, Fogel MA, Mercer-Rosa L
: The impact of the right ventricular outflow tract patch on right ventricular strain in Tetralogy of Fallot. A comparison with valvar pulmonary stenosis utilizing Cardiac magnetic resonance. Pediatr Cardiol 38(3): 617-623, Mar 2017.
Bhat Misha, Mercer-Rosa Laura, Fogel Mark A, Harris Matthew A, Paridon Stephen M, McBride Michael G, Shults Justine, Zhang Xuemei, Goldmuntz Elizabeth: Longitudinal changes in adolescents with TOF: implications for care. European heart journal cardiovascular Imaging 18(3): 356-363, Mar 2017.
Bhat Misha, Goldmuntz Elizabeth, Fogel Mark A, Rychik Jack, Mercer-Rosa Laura: Longitudinal Validation of the Diastolic to Systolic Time-Velocity Integral Ratio as a Doppler-Derived Measure of Pulmonary Regurgitation in Patients with Repaired Tetralogy of Fallot. Pediatric cardiology 38(2): 240-246, Feb 2017.
A.J. Agopian, Ph.D., Elizabeth Goldmuntz, M.D., Hakon Hakonarson, M.D., Ph.D., Anshuman Sewda, MPH, Deanne Taylor, Ph.D., Laura E. Mitchell, Ph.D.,and the Pediatric Cardiac Genomics Consortium: Genome-wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circulation Cardiovascular Genetics (in press) 2017.
Shivani Bhatt, MD, Elizabeth Goldmuntz, MD, Amy Cassedy, PhD, Bradley Marino, MD, MPP, MSCE, and Laura Mercer-Rosa, MD, MSCE: 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. (submitted) 2017.
Michael P DiLorenzo, MD, Elizabeth Goldmuntz, MD, Susan C Nicolson, MD, Mark A Fogel, MD, Laura Mercer-Rosa, MD, MSCE: Early Post-Operative Hemodynamic Profile Following Repair of Tetralogy of Fallot by Unsedated Cardiac MRI Using the Feed and Sleep Technique. (submitted) 2017.
Michael P. DiLorenzo, Yan Wang, Bonnie Ky, Okan Elci, Elizabeth Goldmuntz, Laura Mercer-Rosa: Longitudinal Changes in Right Ventricular Function in Tetralogy of Fallot in the Initial Years after Surgical Repair. (submitted) 2017.
Hongo M. Xie, Petra Warner, Dwight Stambolian, Joan E. Bailey-Wilson, Hakon Hakonarson, Peter S. White, Deanne M. Taylor, Elizabeth Goldmuntz: Rare Copy Number Variants in Patients with Congenital Conotruncal Heart Defects. Birth Defects Research (Part A) (in press) 2017.
Sewda, Anshuman; Agopian, A.J.; Goldmuntz, Elizabeth; Hakonsarson, Hakon; Morrow, Bernice; Taylor, Deanne; Mitchell, Laura: Gene-level Genome-wide Analyses and Meta-analyses of Rare and Common Inherited Variants to Identify Genes Associated with Conotruncal Heart Defects. (submitted) 2017.
Tingwei Guo (1), Gabriel Repetto (2), Donna M. McDonald McGinn (3), Jonathan H. Chung (1), Hiroko Nomaru (1), Christopher L. Campbell (1), Anna Blonska (4), Anne S. Bassett (5), Eva W.C. Chow (5), Elisabeth E Mlynarski (3), Ann Swillen (6), Joris Vermeesch (6), Koen Devriendt (6), Doron Gothelf (7)(8), Miri Carmel(8)(9), Elena Michaelovsky (8)(9), Maude Schneider (10), Stephan Eliez (10), Sylianos E. Antonarakis (11), Karlene Coleman (12), Aoy Tomita-Mitchell (13), M. Christina Digilio (14), Bruno Dallapicolla (14), Bruno Marino (15), Nicole Phillip (16), Tiffany Busa (16), Leila Kushan (17), Carrie E. Beardan (17), Malgorzata Piotrowicz (18), Wanda Hawula (18), Amy E. Roberts (19), Flora Tasson (20), Tony J. Simon (20), Esther van Duin (21), Therese A. van Amelsvoort (21), Wendy R. Kates (22), Elaine Zackai (3), H. Richard Johnston (23, 24), David J. Cutler (23), A.J. Agopian (25), Laura E. Mitchell (25), Elizabeth Goldmuntz (26), Tao Wang (27), Beverly S. Emanuel (3), Bernice E. Morrow (1) and the International 22q11.2 Consortium/Brain and Behavior Consortium: Genome-wide association study of modifiers for tetralogy of Fallot in 22a11.2DS identifies variants in the GPR98 locus on 5q14.3. (submitted) 2017.
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Last updated: 04/07/2017
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