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BAVgenetics is a partnership between Investigators at Brigham and Women’s Hospital, Massachusetts General Hospital and the Harvard-Partners Center for Genetics and Genomics, dedicated to discovering the genetic causes of bicuspid aortic valve disease and associated aortic disease.

Investigators
Simon C. Body, MD, MBCHB, MPH, Principal Investigator
Dr. Simon C. Body, MD, MBChB, MPH

Associate Professor
Harvard Medical School

Hi.  I’m a cardiac anesthesiologist performing research in the genetic risk factors for atrial fibrillation and bicuspid aortic valve disease.

BICUSPID AORTIC VALVE

A bicuspid aortic valve (BAV) has two leaflets, not the usual three.  It is relatively common in the population with a rate of 0.6-1.5%; higher in males and Caucasians, and is the most common congenital valve disease (Yang et al. 2017). BAV comes with a propensity towards ascending aortic dilation and aneurysm and a very high rate of aortic stenosis and incompetence.  Patients with a BAV commonly need surgery to replace the aortic valve because it has become stenotic or incompetent, or the ascending aorta is aneurysmal.  This increased risk is about 10-15-fold higher than if they had a normal tricuspid aortic valve, and on average this surgery is performed in their 50’s to 60’s, about 15-20 years earlier than if they had a normal tricuspid aortic valve.  So, it is a good-size health burden for people.

In 2005, the first variants in a gene for BAV was identified; a gene called NOTCH1 that has a very important role in embryonic development.  However, these variants have only been described in two families and other very-rare variants in or near NOTCH1 are not well associated with BAV.  So these variants cannot explain the 0.6-1.5% rate of BAV in the population.  We embarked on a genome-wide search for genetic causes of BAV in a cohort of patients collected locally and a through the International Bicuspid Aortic Valve Consortium, that I head.  Early in 2017, we published our findings (Michelena et al. 2014), showing that common variants near GATA4 were associated with BAV development.  This was an attractive finding as GATA4 is well known to have a major role in cardiac development, especially in left ventricular outflow tract development.  It was also attractive because these were relatively-common variants, thus helping to explain the relatively high-frequency of BAV in the population.  Presently, we are working on other aortic stenosis and BAV “hits” we identified in the genome-wide study.

Simon C. Body, M.B.,Ch.B., M.P.H., is Associate Professor of Anesthesia at Harvard Medical School and a Cardiac Anesthesiologist at Brigham and Women’s Hospital. His academic interest is the role of genetic variation upon postoperative outcomes after cardiac surgery. In addition he is particularly interested in the role of genetic variation in bicuspid aortic valve disease.

Education / Training:

  • Medical School: Auckland Medical School, Auckland, New Zealand
  • Residencies / Fellowships: Auckland Hospital, Auckland, New Zealand and Brigham & Women’s Hospital, Boston, MA

Research focus:
The effect of genetic variation upon outcomes after cardiac surgery and the role of genetic variation in bicuspid aortic valve disease

Representative Publications:
Liu KY, Muehlschlegel JD, Perry TE, Fox AA, Collard CD, Body SC, Shernan SK. Common genetic variants on chromosome 9p21 predict perioperative myocardial injury after coronary artery bypass graft surgery. J Thorac Cardiovasc Surg. 2009 Oct 9. [Epub ahead of print] PubMed PMID: 19819472.

Aranki SF, Body SC. Antiplatelet agents used for early intervention in acute coronary syndrome: myocardial salvage versus bleeding complications. J Thorac Cardiovasc Surg. 2009 Oct;138(4):807-10. PubMed PMID: 19769880.

Perry TE, Muehlschlegel JD, Liu KY, Fox AA, Collard CD, Body SC, Shernan SK; CABG Genomics Investigators. C-Reactive protein gene variants are associated with postoperative C-reactive protein levels after coronary artery bypass surgery. BMC Med Genet. 2009 May 8;10:38. PubMed PMID: 19426506; PubMed Central PMCID: PMC2686694.

Muehlschlegel JD, Perry TE, Liu KY, Nascimben L, Fox AA, Collard CD, Avery EG, Aranki SF, D’Ambra MN, Shernan SK, Body SC; CABG Genomics Investigators. Troponin is superior to electrocardiogram and creatinine kinase MB for predicting clinically significant myocardial injury after coronary artery bypass grafting. Eur Heart J. 2009 Jul;30(13):1574-83. Epub 2009 Apr 30. PubMed PMID: 19406870; PubMed Central PMCID: PMC2733736.

Fox AA, Collard CD, Shernan SK, Seidman CE, Seidman JG, Liu KY, Muehlschlegel JD, Perry TE, Aranki SF, Lange C, Herman DS, Meitinger T, Lichtner P, Body SC. Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting. Anesthesiology. 2009 Apr;110(4):738-47. PubMed PMID: 19326473; PubMed Central PMCID: PMC2735337.

Fox AA, Shernan SK, Collard CD, Liu KY, Aranki SF, DeSantis SM, Jarolim P, Body SC. Preoperative B-type natriuretic peptide is as independent predictor of ventricular dysfunction and mortality after primary coronary artery bypass grafting. J Thorac Cardiovasc Surg. 2008 Aug;136(2):452-61. PubMed PMID: 18692657; PubMed Central PMCID: PMC2739747.

Muehlschlegel JD, Body SC. Impact of genetic variation on perioperative bleeding. Am J Hematol. 2008 Sep;83(9):732-7. Review. PubMed PMID: 18508320.

Collard CD, Shernan SK, Fox AA, Bernig T, Chanock SJ, Vaughn WK, Takahashi K, Ezekowitz AB, Jarolim P, Body SC. The MBL2 ‘LYQA secretor’ haplotype is an independent predictor of postoperative myocardial infarction in whites undergoing coronary artery bypass graft surgery. Circulation. 2007 Sep 11;116(11 Suppl):I106-12. PubMed PMID: 17846289.

Contact:
Simon C. Body, MD, MPH
Brigham and Women’s Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

Phone: (617) 732-8217
Fax: (617) 730-2813
Email: sbody@bwh.harvard.edu

mahyar_photo_edited
Dr. Mahyar Heydarpour, MSc, PhD

Statistical Geneticist
Instructor, Harvard Medical School

Dr. Mahyar Heydarpour is a statistical geneticist in the Department of Anesthesiology at Brigham and Women’s Hospital and an Instructor at Harvard Medical School. His research interests are Genome Wide Association Study (GWAS) of Bicuspid Aortic valve (BAV) and Atrial Fibrillation (AF) for patients undergoing cardiac surgery. He is also interested in identifying expression quantitative trait loci (eQTL) in Human left atrium associated with AF and genomics of Thoracic Aortic Aneurysm. He is involving in numerous research projects at the Center of preoperative genomics for statistical analysis including GWAS, RNAseq, eQTL, ASE, DNA-methylation and CNV tests. Dr. Heydarpour has been part of the team since March 2013.

Education/ Training:

  • Ph.D. in Animal Genetics: University of Guelph (2001- 2006), Guelph, Ontario, Canada
  • Assistant Professor: Ferdowsi University of Mashhad (2006 – 2008), Mashhad, Iran
  • Postdoc Fellow: McMaster University (2009-2011), Department of Medicine, Hamilton, Canada
  • Postdoc Fellow: University of Guelph (2011-2013), Bovine Genomics, Guelph, Ontario, Canada

Representative Publications:

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. Yang B, Zhou W, Jiao J, Nielsen JB, Mathis MR, Heydarpour M, Lettre G, Folkersen L, Prakash S, Schurmann C, Fritsche L, Farnum GA, Lin M, Othman M, Hornsby W, Driscoll A, Levasseur A, Thomas M, Farhat L, Dubé MP, Isselbacher EM, Franco-Cereceda A, Guo DC, Bottinger EP, Deeb GM, Booher A, Kheterpal S, Chen YE, Kang HM, Kitzman J, Cordell HJ, Keavney BD, Goodship JA, Ganesh SK, Abecasis G, Eagle KA, Boyle AP, Loos RJF, Eriksson P, Tardif JC, Brummett CM, Milewicz DM, Body SC, Willer CJ. Nat Commun. 2017. 8:15481. [PMID: 28541271].

Post-operative atrial fibrillation examined using whole-genome RNA sequencing in human left atrial tissue. Sigurdsson MI, Saddic L, Heydarpour M, Chang TW, Shekar P, Aranki S, Couper GS, Shernan SK, Muehlschlegel JD, Body SC. BMC Med Genomics. 2017.10(1):25. [PMID: 28464817].

The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle. Saddic LA, Sigurdsson MI, Chang TW, Mazaika E, Heydarpour M, Shernan SK, Seidman CE, Seidman JG, Aranki SF, Body SC, Muehlschlegel JD. Circ Cardiovasc Genet. 2017 Jan;10(1). pii: e001534. [PMID: 28115490].

Allele-specific expression in the human heart and its application to postoperative atrial fibrillation and myocardial ischemia. Sigurdsson MI, Saddic L, Heydarpour M, Chang TW, Shekar P, Aranki S, Couper GS, Shernan SK, Seidman JG, Body SC, Muehlschlegel JD. Genome Med. 2016. 6;8(1):127.[PMID: 27923400].

Duration of Postoperative Atrial Fibrillation After Cardiac Surgery Is Associated With Worsened Long-Term Survival. Sigurdsson MI, Longford NT, Heydarpour M, Saddic L, Chang TW, Fox AA, Collard CD, Aranki S, Shekar P, Shernan SK, Muehlschlegel JD, Body SC. Ann Thorac Surg. 2016.102(6):2018-2026. [PMID: 27424470].

Contact:
Mahyar Haydarpour, MSC, PHD
Brigham and Women’s Hospital
75 Francis Street
Boston, MA 02115

Phone: (617) 525-8483
Email: mheydarpour@bwh.harvard.edu

Eric Isselbacher, MD (3)
Dr. Eric Isselbacher, MD

Associate Professor of Medicine
Massachusetts General Hospital

Dr. Isselbacher is a graduate of Harvard Medical School. He completed his medical residency at the Massachusetts General Hospital, where he also completed fellowships in cardiology and echocardiography. In 1996 he joined the staff of the Cardiology Division at Massachusetts General Hospital. Dr. Isselbacher is an Associate Professor of Medicine at Harvard Medical School. He is the Associate Director of the Massachusetts General Hospital Heart Center, and he is also the Founder and Director of the Heart Center’s Healthcare Transformation Lab. Dr. Isselbacher is Co-Founder and Co-Director of the MGH Thoracic Aortic Center, which was one of the first multidisciplinary disease-specific programs of its kind in the nation. He is also Co-Founder and Co-Principal Investigator if the International Registry of Acute Aortic Dissection (IRAD), which is the largest registry of its kind in the world.

Dr. Isselbacher is a recognized expert in the diagnosis and management of aortic dissection and thoracic aortic aneurysms. He has contributed extensively to the literature on aortic disease, having authored numerous research studies, review articles, and book chapters, including the chapter on Diseases of the Aorta in four consecutive editions of Braunwald’s Heart Disease. He is a co-author of the recently published American College of Cardiology Foundation/American Heart Association guidelines on Thoracic Aortic Disease. He has lectured nationally and internationally on aortic dissection. He is actively involved in training cardiology fellows at Massachusetts General Hospital, and was a recipient of the W. Proctor Harvey Young Teacher Award from the American College of Cardiology. Dr. Isselbacher recently completed a Masters in Healthcare Delivery Science at Dartmouth College, as a member of the inaugural class of a new graduate program taught jointly by the faculties of the Tuck School of Business and the Dartmouth Institute for Health Care Policy & Clinical Practice.

Education / Training:

  • Medical School: Harvard Medical School, Cambridge, Massachusetts
  • Residencies / Fellowships: Massachusetts General Hospital, Boston, Massachusetts

Representative Publications:
Kaneko T, Shekar P, Ivkovic V, Longford NT, Huang CC, Sigurdsson MI, Neely RC, Yammine M, Ejilofor JI, Montiero Vieira V, Shahram JT, Habchi KM, Malzberg GW, Martin PS, Bloom J, Isselbacher EM, Muehlschlegel JD, Sundt TM, Body SC. Should the dilated ascending aorta be repaired at the time of bicuspid aortic valve replacement? Eur J Cardiothorac Surg. 2017 Nov 14. PMID: 29149323.

Yang B, Zhou W, Jiao J, Nielsen JB, Mathis MR, Heydarpour M, Lettre G, Folkersen L, Prakash S, Schurmann C, Fritsche L, Farnum GA, Lin M, Othman M, Hornsby W, Driscoll A, Levasseur A, Thomas M, Farhat L, Dubé MP, Isselbacher EM, Franco-Cereceda A, Guo DC, Bottinger EP, Deeb GM, Booher A, Kheterpal S, Chen YE, Kang HM, Kitzman J, Cordell HJ, Keavney BD, Goodship JA, Ganesh SK, Abecasis G, Eagle KA, Boyle AP, Loos RJF, Eriksson P, Tardif JC, Brummett CM, Milewicz DM, Body SC, Willer CJ. Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. Nat Commun. 2017 May 25; 8:15481. PMID: 28541271.

Habchi KM, Ashikhmina E, Vieira VM, Shahram JT, Isselbacher EM, Sundt TM, Shekar P, Muehlschlegel JD, Body SC. Association between bicuspid aortic valve morphotype and regional dilatation of the aortic root and trunk. Int J Cardiovasc Imaging. 2017 Mar; 33(3):341-349. PMID: 27838896.

Michelena HI, Prakash SK, Della Corte A, Bissell MM, Anavekar N, Mathieu P, Bossé Y, Limongelli G, Bossone E, Benson DW, Lancellotti P, Isselbacher EM, Enriquez-Sarano M, Sundt TM, Pibarot P, Evangelista A, Milewicz DM, Body SC. Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). Circulation. 2014 Jun 24; 129(25):2691-704. PMID: 24958752; PMCID: PMC4145814.

LeMaire SA, McDonald ML, Guo DC, Russell L, Miller CC, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi HJ, Belmont JW, Leal SM, Milewicz DM. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011 Sep 11; 43(10):996-1000. PMID: 21909107; PMCID: PMC3244938.

Contact:
Eric Isselbacher, MD
55 Fruit St
Yaw 5 Cardiac Unit Associates
Boston, MA 02114

Phone: (617) 724 – 1994
Fax: (617) 724 – 0289
Email: isselbacher.eric@mgh.harvard.edu

Robert Levine, MD (3)
Dr. Robert Levine, MD

Senior physician
Cardiac Ultrasound Laboratory

Dr. Levine’s career focuses on using imaging techniques to explore mechanisms of valvular heart disease in order to develop and test more specific and effective therapies. This mission encompasses diseases of excess valve motion (prolapse, obstructive systolic anterior motion) and deficient valve tissue relative to the remodeling ventricle after heart attack. He devotes substantial time to guiding the career development of emerging investigators both in Boston and as part of the Leducq MITRAL Transatlantic Network. The Leducq Transatlantic Network of Excellence in Mitral Valve Disease, based in the Division of Cardiology at MGH and coordinated by Dr. Robert A. Levine in the Cardiac Ultrasound Laboratory, applies techniques of molecular genetics and cell and developmental biology to clinically derived material and experimental models of mitral valve disease, a major source of heart failure and mortality worldwide. It aims to discover common themes among different conditions affecting the mitral valve and to understand the lexicon of growth signals that can lead to successful interventions. The network fosters dynamic interactions among basic and clinical investigators at MGH and major national and international institutions. This alliance of investigators moves genetic findings into model systems to understand their effect on valve biology and test potential therapies while providing junior investigators opportunities for career growth.

Education / Training:

  • Medical School: Harvard Medical School, Cambridge, Massachusetts
  • Residencies / Fellowships: Massachusetts General Hospital, Boston, Massachusetts

Contact: 
Robert Levine, MD
Cardiac Unit Associates
55 Fruit Street
Boston, MA 02114-2696

Phone: 617-724-1995
Fax: 617-643-1616

Muehlschlegel BWH Headshot
Dr. Jochen D. Muehlschlegel, MD, MMSc, FAHA

Associate Professor 
Harvard Medical School 

Dr. Danny Muehlschlegel is an attending cardiovascular anesthesiologist at Brigham and Women’s Hospital, where he is also the Director of Cardiac Anesthesia Research, and an Associate Professor of Anesthesia at Harvard Medical School.

As a cardiac anesthesiologist with significant subspecialty training in all aspects of cardiac disease and transesophageal echocardiography, Dr. Muehlschlegel is a perioperative physician guiding the care of very sick patients with cardiovascular disease. His particular expertise is in the area of myocardial injury and its association with cardiac specific biomarker elevation, as well as in defining the role that the ECG has in the acute myocardial injury setting immediately post cardiac surgery.

In addition, Dr. Muehlschlegel is an NIH-funded physician-scientist with an active laboratory examining the impact of genetic variation upon adverse cardiovascular events and their significance on a functional level. He is the Principal Investigator of the TRANSCRIBE study (Transcriptomic Analysis of Left Ventricular Gene Expression), which aims to identify differential expression in human left ventricular myocardium upon exposure to ischemia, examine genetic variants that determine expression changes, and characterize these changes among different disease states.

Dr. Muehlschlegel is also the Chief Scientific Officer of Team Heart, a nonprofit medical organization focused on bringing sustainable cardiac care to Rwanda, a country with a very high incidence of rheumatic heart disease. In Rwanda, he initiated the genetics of rheumatic heart disease (RECHARGE) study, to investigate the genetic signal behind rheumatic heart disease and the molecular changes that accompany the valvular pathology.

Education / Training:

  • Medical School: Albert Ludwigs University Freiburg, Germany (1994-2001)
  • Residency: University of Florida, Gainesville, FL (2002-2006)
  • Fellowship: Cardiac Anesthesia, Brigham and Women’s Hospital, Boston, MA (2006-2007)
  • Research training: Masters of Medical Science in translational genetics, Harvard Medical School, Boston, MA (2008-2010)

Recent publications:

  1. Sigurdsson MI, Saddic L, Heydarpour M, Chang TW, Shekar P, Aranki SF, Couper GS, Shernan SK, Seidman JG, Body SC, Muehlschlegel JD. Allele-specific Expression in the Human Heart and its Application to Postoperative Atrial Fibrillation and Myocardial Ischemia. Genome Med. 2016 Dec 6;8(1):127. PMID: 27923400
  2. Saddic L, Nicoloro SM, Gupta OT, Czech MP, Gorham J, Shernan SK, Seidman CE, Seidman JG, Aranki SF, Body SC, Fitzgibbons TP, Muehlschlegel JD. Joint analysis of left ventricular expression and circulating plasma levels of Omentin after myocardial ischemia. Cardiovasc Diabetol. 2017 Jul 7;16(1):87. PMID: 28687077
  3. Sigurdsson MI Saddic L, Heydarpour M, Chang TW, Shekar P, Aranki S, Couper G, Shernan S, Muehlschlegel JD, Body SC. Post-operative atrial fibrillation examined using whole-genome RNA sequencing in human left atrial tissue. BMC Med Genomics. 2017 May 2;10(1):25. PMID: 28464817
  4. Butler C, Luxford JMH, Huang CC, Ejiofor JI, Rawn, JD, Wilusz K, Fox JA, Shernan SK, Muehlschlegel JD. Aortic Atheroma Increases the Risk of Long-Term Mortality in 20,000 patients. Ann Thorac Surg. 2017 Oct;104(4):1325-1331. PMID: 28577841
  5. Kelly BJ, Luxford JMH, Butler C, Huang CC, Wilusz K, Ejiofor J, Rawn, J, Fox JA, Shernan SK, Muehlschlegel JD. The Severity of Tricuspid Regurgitation is Associated with Long Term Mortality in a 20,000 Patient Cohort of Cardiac Surgical Patients. In Press JTCVS 11/2017

All publications:

[Publications]

Contact:
Danny Muehlschlegel, M.D.
Neville House
10 Vining Street
Boston, MA 02115-6114

Phone: 617-525-8156
Fax: 617-730-2813
Email: jmuehlschlegel@bwh.harvard.edu

Alexander Opotowsky
Dr. Alexander Opotowsky, MD, MPH, MMsc

Assistant Professor in Pediatrics
Harvard Medical School

Alexander (Sasha) Opotowsky is a member of the Boston Adult Congenital Heart (BACH) and Pulmonary Hypertension service at Boston Children’s and Brigham and Women’s Hospitals. He completed medical residency at Brigham and Women’s followed by cardiology fellowship at the University of Pennsylvania and a senior adult congenital heart disease and pulmonary hypertension fellowship with the BACH service. He received his medical degree from Columbia University College of Physicians & Surgeons.

Education / Training:

  • Medical School: Columbia University, College of Physicians and Surgeons, 2003. New York City, NY
  • Senior Fellowship: Boston Children’s Hospital and Brigham and Women’s Hospital, 2011. Boston, MA
  • Fellowship, Cardiovascular Medicine: Hospital of the University of Pennsylvania, 2009. Philadelphia, PA
  • Residency: Brigham and Women’s Hospital, 2006. Boston, MA

Representative Publications
Opotowsky AR, Perlstein T, Landzberg MJ, Colan SD, O’Gara PT, Body SC, Ryan LF, Aranki S, Singh MN. A shifting approach to management of the thoracic aorta in bicuspid aortic valve. J Thorac Cardiovasc Surg. 2013 Aug; 146(2):339-46. PMID: 23142124; PMCID: PMC4086685.

Opotowsky AR, Landzberg MJ. Bicuspid aortic valve morphology. J Am Coll Cardiol. 2010 Nov 09; 56(20):1680; author reply 1680-1. PMID: 21050981.

Contact:
Alexander Opotowsky
300 Longwood Avenue
BACH Cardiology, Bader 209
Boston, MA 02115

Phone: (617) 355-6508
Fax: (617) 730-7540

Fred Schoen, MD
Dr. Frederick J. Schoen, MD, PHD

Professor of Pathology and Health Sciences and Technology, Harvard Medical School

Executive Vice Chairman, Department of Pathology, Brigham and Women’s Hospital

Dr. Schoen is the Executive Vice Chairman of BWH’s Department of Pathology, and Professor of Pathology and Health Sciences and Technology at Harvard Medical School. He investigates the functional structure and cell/matrix biology, and tissue engineering of heart valves. The objectives of these studies are to understand the mechanisms of normal valve functional dynamics and how these are disrupted in valve disease, and the limitations to the success of currently available prosthetic devices. His studies provide input to the development of improved management strategies for native and prosthetic valve disease and potentially new medical devices.

Education / Training:

  • Medical School – University of Miami School of Medicine M.D.
  • Graduate School – Cornell University (Materials Science) Ph.D.
  • Internship 07/01/74 – 06/30/75 : Surgery; Jackson Memorial Hospital, Miami 
  • Residency 07/01/77 – 06/30/79 : Anatomic Pathology; Univ. Florida, Gainesville, FL 
  • Fellowship 07/01/79 – 06/30/80 : Cardiovasc/Thoracic Pathology; Univ. Florida, Gainesville, FL 

Research focus:
Biotechnology

Representative Publications:
Hjortnaes J, Goettsch C, Hutcheson JD, Camci-Unal G, Lax L, Scherer K, Body S, Schoen FJ, Kluin J, Khademhosseini A, Aikawa E. Simulation of early calcific aortic valve disease in a 3D platform: A role for myofibroblast differentiation. J Mol Cell Cardiol. 2016 May; 94:13-20. PMID: 26996755; PMCID: PMC4906202 [Available on 11/01/16].

Mathieu P, Bossé Y, Huggins GS, Corte AD, Pibarot P, Michelena HI, Limongelli G, Boulanger MC, Evangelista A, Bédard E, Citro R, Body SC, Nemer M, Schoen FJ. The pathology and pathobiology of bicuspid aortic valve: State of the art and novel research perspectives. J Pathol Clin Res. 2015 Oct; 1(4):195-206. PMID: 27499904; PMCID: PMC4939890.

Contact:
Frederick Schoen, MD, Ph.D.
75 Francis Street

AL3-119a Amory building
Boston,MA 02115

Email: fschoen@partners.org

Shekar 8 X 10
Dr. Prem S. Shekar, MD

Chief – Division of Cardiac Surgery
Assistant Professor of Surgery
Harvard Medical School

Dr. Prem S. Shekar is the chief of the Division of Cardiac Surgery and surgical director of the Heart and Vascular Center at Brigham and Women’s Hospital (BWH). In addition, he is an assistant professor of surgery at Harvard Medical School.

Dr. Shekar received his medical degree from Bangalore Medical College and Research Institute in India. He completed two residencies in India: one in surgery at Command Hospital Airforce and the other in cardiothoracic surgery at Jawaharlal Institute of Postgraduate Medical Education and Research. Dr. Shekar then completed cardiothoracic surgery residency programs at Fremantle Hospital and Royal Adelaide Hospital, both in Australia and completed a cardiac surgery fellowship at BWH.  Dr. Shekar is also a fellow of the Royal College of Surgeons of Edinburgh.

His practice encompasses the entire spectrum of adult cardiac surgery, including primary and coronary artery bypass grafting, repair or replacement for valvular heart disease, as well as resection and replacement of aneurysms. Dr. Shekar’s clinical interests include surgical treatment of hypertrophic cardiomyopathy, surgical correction of aortic root and mitral valve pathologies in patients with Marfan’s and Loeys-Dietz syndrome and other connective tissue disorders; minimally invasive valve surgery, surgery for adult congenital heart disease and radiation-induced heart disease.

Dr. Shekar’s research investigates clinical outcomes. He was the principal investigator in the CIMIT-funded Hybrid Cardiovascular Operating Room project and the site principal investigator for the HeartMate II Pivotal trial, which studied a novel ventricular assist device as a permanent therapy for patients with advanced heart disease who are not candidates for transplantation. He performed the first minimal access atrial fibrillation ablation at BWH in 2007 and introduced endoscopic radial arterial harvest for coronary bypass grafting. Along with specialized teams of cardiologists, Dr. Shekar has helped develop an advanced surgical program at the BWH; both for patients with connective tissue disorders and for those with hypertrophic cardiomyopathy. He has also authored over 65 peer-reviewed publications.

Education / Training:

  • Medical School: George Washington University School of Medicine, Washington DC
  • Residencies / Fellowships: Johns Hopkins Hospital, Baltimore, MD, and and Massachusetts General Hospital, Boston, MA

Research focus:
Inherited cardiovascular disorders

Representative Publications:
Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet. 2009 Aug;41(8):931-5. PubMed PMID: 19597493.

Herman DS, Hovingh GK, Iartchouk O, Rehm HL, Kucherlapati R, Seidman JG, Seidman CE. Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods. 2009 Jul;6(7):507-10. PubMed PMID: 19543287.

Contact:
Prem Shekar, M.D.
Brigham and Women’s Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

Phone: 617-732-7678
Fax: 617-975-0848
Email: pshekar@bwh.harvard.edu

Stan Shernan
Dr. Stan Shernan, MD

Associate Professor,
Harvard Medical School

Stanton K. Shernan, MD, is currently an Associate Professor of Anaesthesia at Harvard Medical School and the Director of Cardiac Anesthesia at the Brigham and Women’s Hospital. His academic interests have included education and research focused on the influence of perioperative echocardiography on perioperative clinical decision-making during cardiac surgery primarily involving valve procedures. In addition, Dr. Shernan has spent most of his career studying the mechanisms, treatment and risk factors including the potential role of genetic variation postoperative adverse outcomes including perioperative myocardial injury.

Education / Training:
Medical School: Tufts University School of Medicine, Boston, MA
Residencies / Fellowships: Beth Israel Hospital, Boston, MA and Brigham & Women’s Hospital, Boston, MA

Research focus:
Genetic variants on perioperative adverse clinical outcomes and the influence of transesophageal echocardiography on perioperative clinical decision-making

Representative Publications:
Perry T, Muehlschlegel J, Liu K, Fox A, Collard CD, Body S, Shernan S. Preoperative  C-reactive protein predicts long-term mortality and hospital length of stay after primary, nonemergent coronary artery bypass grafting. (Anesthesiology 2009: In Press).

Liu KY, Muehlschlegel J, Perry T, Fox A, Collard CD, Body S, Shernan S. Common genetic variants on chromosome 9p21 predict perioperative myocardial injury after CABG surgery. (Journal Cardiothorac and Vasc Surgery 2009: In press).

Muehlschlegel J, Perry T, Liu K, Nascimben L, Aranki S, D’Ambra M, Shernan S, Body S. Troponin is superior to other biomarkers and ECG for predicting myocardial injury after coronary artery bypass grafting. Eur Heart J 2009;30:1574-83.

Perry T, Muehlschlegel J, Liu K, Fox A, Collard C, Body S, Shernan S. C-Reactive protein gene variants are associated with postoperative C-reactive protein levels after coronary artery bypass graft surgery. BMC Mede Genet 2009;10:38.

Sugeng L, Shernan S, Salgo I, Weinert L, Shook D,Raman J, Jeevanandam V, DuPontF,Settlemier S, Savord B, Mor-Av V, Fox J, Lang R. Real-Time 3D Transesophageal echocxardiography in valve disease:comparison with surgical findings and evaluation of prosthetic valves. J Am Soc Echocardiogr 2008;12:1347-54.

Contact:

Stan Shernan, MD
Brigham and Women’s Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

Phone: (617) 732 – 6660
Email: sshernan@bwh.harvard.edu

Martin Sigurdsson, MD
Dr. Martin I Sigurdsson, MD, PHD

Fellow in Critical Care Medicine at Duke University

Dr. Martin I. Sigurdsson is a resident in anesthesiology at Brigham and Women’s Hospital. His primary research interests are genetic variants and atrial gene expression patterns in patients who develop atrial fibrillation after cardiac surgery. He is also interested in identifying genetic variants associated with acute organ failures.

Education / Training:

  • Medical School: University of Iceland (2003-2009), Reykjavik, Iceland
  • Ph.D. in Genetics: University of Iceland (2008-2011), Reykjavik, Iceland
  • Residency: Brigham and Women’s Hospital (2012-2016), Boston, MA, USA
Staff
Svetlana Gorbatov, Research Associate
Svetlana Gorbatov, BS, MPH

Research Associate

Svetlana Gorbatov, M.P.H., is a research associate for the CABG Genomics Program. Ms. Gorbatov earned her Bachelor of Science degree in Biology at Odessa State University in Odessa, Ukraine and her Master of Public Health degree from the University of Massachusetts – Worcester, with a concentration in Epidemiology. Prior to working at Brigham and Women’s Hospital, she worked for the City Department of Public Health in Odessa, Ukraine, as an epidemiologist, through investigating and treating incalculable disease-ridden populations. Ms. Gorbatov has been with the team since 2003.

Education / Training:

  • M.P.H. with a concentration in Epidemiology. University of Massachusetts – Worcester. Worcester, MA.
  • B.S. in Biology. Odessa State University. Odessa, Ukraine.

Contact:
Svetlana Gorbatov
Brigham and Women’s Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

Phone: (617) 732-8127
Fax: (617) 730-2813
Email: sgorbatov@bwh.harvard.edu

Jim Gosnell, Clinical Research Nurse Coordinator
James Gosnell, BSN, RN

Clinical Research Nurse Coordinator

James Gosnell, R.N., is a research nurse for the Dept. of Anesthesia. He has been with the team since 2001. He holds a Bachelor of Science in Nursing from Salem State University, and has worked at Brigham and Women’s Hospital for over thirty-one years (including many years of clinical work). Additionally, Mr. Gosnell enlisted into the United States Air Force during the Vietnam War, and served the nation while being stationed in North Dakota (two years) and Italy (over three years), and earned the prestigious title of lieutenant colonel, Chief Flight Nurse with over 7000 hrs flight time, retiring with an honorable discharge with 33 years of service.

Education / Training: 

  • Bachelor of Science, Nursing. Salem State University. Salem, MA.

Research focus:
Clinical trials and cardiovascular research. Jim is assisting to design research protocols and databases.

Previous experience:
Jim has started and ran over 60 Clinical Research Protocols, written or assisted in writing and submitted protocols to the IRB, and has been assistant author to 9 professional journal articles and 5 abstracts. He has also been a sitting member of the IRB panel A since 1997.

Contact:
James Gosnell, RN
Brigham and Women’s Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

Phone: 617-732-5500, Extension 33274
Fax: (617) 277-21923
Email: jgosnell@bwh.harvard.edu

Thy Nguyen, Technical Research Assistant
Thy B. Nguyen, BA

Technical Research Assistant

Thy B. Nguyen is a technical research assistant to Dr. Simon Body for the investigation of the genetic etiologies of bicuspid aortic valve disease. With an interest in the intersection of maternal-fetal health and global health, she is working towards applying to medical school and is currently completing coursework at the Harvard Extension School Premedical Program. Outside of work at Brigham and Women’s Hospital, she is a teaching assistant in health policy through the Petey Greene Program and serves as an officer for PureMadi, an organization that works to increase access to potable water and prevent waterborne illness.

Education / Training:

  • Premedical Program, Harvard Extension School, Cambridge, MA (2017 – present)
  • Bachelor of Arts in Biology, Specialization in Environmental and Biological Conservation: The University of Virginia, Charlottesville, VA (2010-2014)

Contact:
Thy B. Nguyen
Brigham and Women’s Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

Phone: 617-525-3102
Email: tbnguyen@bwh.harvard.edu

Jasmine Shahram, Technical Research Assistant
Jasmine T. Shahram, BS

Technical Research Assistant

Jasmine T. Shahram, B.S., is a Technical Research Assistant for the CABG Genomics Program at Brigham and Women’s Hospital and has been part of the team since 2015. She earned her Bachelor of Science degree in Psychology from Suffolk University in Boston, M.A. Her current role primarily focuses on identifying genetic variations associated with bicuspid aortic valve disease, as well as coordinating with Investigators throughout BAVCon (The Bicuspid Aortic Valve Consortium; an international consortium of 26+ institutions gathered worldwide with cohorts of BAV patients).

Education / Training:

  • Bachelor of Science in Psychology, Suffolk University, Boston, Massachusetts (2011-2015)

Representative Publications:

Association between bicuspid aortic valve morphotype and regional dilatation of the aortic root and trunk. Karam M. Habchi, Elena Ashikhmina, Vanessa Montiero Vieira, Jasmine T. Shahram, Eric M. Isselbacher, Thoralf M. Sundt III, Prem Shekar, Jochen D. Muehlschlegel, Bicuspid Aortic Valve Consortium, and Simon C. Body

Genome Wide Association with Aortic Dimension in Bicuspid Aortic Valve Disease. Mahyar Heydarpour, PhD, Martin Sigurdsson, M.D., Ph.D., Vanessa Montiero Vieira, B.S., Jasmine T. Shahram, B.S., J. Daniel Muehlschlegel, M.D., M.M.Sc., Tsuyoshi Kaneko, M.D., Prem Shekar, M.D., Thoralf M. Sundt III, M.D., Simon C. Body, M.B.,Ch.B., M.P.H.

Should the Dilated Ascending Aorta be repaired at the time of Bicuspid Aortic Valve Replacement? Tsuyoshi Kaneko, M.D., Prem Shekar, M.D., Vladimir Ivkovic, Ph.D., Nicholas T. Longford, Ph.D., Chuan-Chin Huang, D.Sc., Martin Sigurdsson, M.D., Ph.D., Robert C. Neely, M.D., Maroun Yammine, M.D., Julius Ejilofor, M.D., Vanessa Montiero Vieira, B.S., Jasmine T. Shahram, B.S., Karam M. Habchi, M.S., Gregory W. Malzberg, B.A., Jordan Bloom, M.D., Eric M. Isselbacher, M.D., J. Daniel Muehlschlegel, M.D., M.M.Sc., Bicuspid Aortic Valve Consortium (BAVCon), Thoralf M. Sundt III, M.D.

Pathogenic Mechanisms of Bicuspid Aortic Valve Aortopathy. Noor M. Yassine, B.S., Jasmine T. Shahram, B.S., Simon C. Body, M.D., M.P.H.

Contact:
Jasmine T. Shahram
Brigham and Women’s Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

Phone: (617) 732-8127, (617) 732-6881
Fax: (617) 730-2813
Email: jshahram@bwh.harvard.edu

Salina Shrestha, Technical Research Assistant
Salina Shrestha, BS

Technical Research Assistant

Salina Shrestha is a Technical Research Assistant for the Dept. of Anesthesiology. She earned her Bachelor of Science in Biochemistry from Suffolk University in Boston, M.A., but more than that she is a curious, passionate and a unique creative team player who loves to learn and explore. Her passion is what has driven her to take up a career in Research and is currently involved in projects such as genetic causes of Aortic Valve Atherogenesis, gene expression profiling in subjects with Postoperative Atrial Fibrillation after Cardiac Surgery, Transcriptomic analysis of left ventricular gene expression (TRANSCRIBE) and Prodigy study. She is looking to solidify her career as a dedicated Researcher and plans to attend Graduate school in the near future. On the fun part, she is a staunch New England Patriots fan and enjoys to root for all the Boston sport teams.

Education / Training:

  • Bachelor of Science in Biochemistry, Suffolk University, Boston, Massachusetts (2011-2015)

Contact: 
Salina Shrestha
Brigham and Women’s Hospital
Department of Anesthesiology, Perioperative and Pain Medicine
75 Francis Street
Boston, MA 02115

Phone: 617-525-9292
Email: sshrestha6@bwh.harvard.edu

Claire Xu, Biostatistician
Xinling (Claire) Xu

Senior Research Scientist

Dr. Xinling Xu, who goes by Claire, is a biostatistician in anesthesiology at Brigham and Women’s Hospital. Her primary research interests are the applications of various statistical techniques in pain management, and anesthesia. Her expertise lies in Bayesian factor analysis, generalized estimating equations and generalized linear mixed effect models for longitudinal data/repeated measures, complex survey data analysis, sample size calculation, as well as the application of copula functions for bivariate outcomes.

Education/Training:

  • Ph.D. in Biostatistics: University of South Carolina, Columbia, SC (2013-2017)
  • M.S. in Statistics: University of Minnesota, Twin Cities, MN (2011-2013)
  • B.S. in Computational Mathematics: Dalian University of Technology, China (2007-2011)

Contact:
Claire Xu
Thorn 723C
Thorn Biosciences Research
Brigham & Women’s Hospital
75 Francis Street
Boston, MA 02115

Phone: 617-525-7143
Email: xxu20@bwh.harvard.edu

Institutions

These are the institutions where we work:

bwh
hms
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Partners_HealthCare_logo.svg

Click the NIH logo below to read the description of the study at the NIH clinical trials Registry:

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IRB Contact Information

If you have any questions or concerns about this research that you would like answered by the staff of the Partners Institutional Review Board,

You may write to:
Partners Human Research Office
116 Huntington Avenue, Suite 1002
Boston, MA 02116

Or telephone: 617-424-4100
Or email: irb@partners.org

You may wish to also review the Partners Institutional Review Board web site at:
http://healthcare.partners.org/phsirb/infoforpublic.htm

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