Title
Co-Director, Heart Institute
Medical Director, Cardiomyopathy, Heart Failure and Heart Transplant, Le Bonheur Children's Hospital
Professor and Vice Chair of Strategic Advancement, The University of Tennessee Health Science Center
Patient Care Emphasis
Diagnostic and therapeutic advances for cardiomyopathies (heart muscle disease), heart failure and heart transplantation, cardiovascular genetics, cardio-oncology.
Location
University of Cincinnati College of Medicine (1982)
B.S. in Biology (1974) University of Cincinnati
M.S. in Cell Biology (1977) University of Cincinnati
American Board of Pediatrics
Sub-board of Pediatric Cardiology
Children's Hospital Medical Center (1982-1983)
Children's Hospital Medical Center (1983-1985)
Baylor College of Medicine, Texas Children's Hospital (1985-1989)
1991 Richard D. Rowe Award, The Society for Pediatric Research
1993 Young Investigator Award, American Academy of Pediatrics, Section on Cardiology
1997 Pfizer Visiting Professorship in Cardiovascular Medicine
1998 Distinguished Service Award, American Heart Association
2003 Michael DeBakey Excellence in Research Award
2004 Cincinnati Children’s Hospital Wall of Honor
2007 American College of Cardiology Distinguished Scientist Award (Basic)
2007 American Heart Association T. Duckett Jones Lecturer
2010 Council on Cardiovascular Disease of the Young (CVDY), American Heart Association Meritorious Achievement Award
2012 Simon Dack Award, American College of Cardiology
2013 American Heart Association Basic Research Prize
Fellow, American Heart Association
Fellow, American College of Cardiology
Fellow, American Academy of Pediatrics
Member, Society for Pediatric Research
Member, International Society of Heart and Lung Transplantation
Member, Heart Failure Society of America
Member, International Society for Pediatric Mechanical Cardiopulmonary Support
Member, Heart Rhythm Society
Member, International Society of Cardiomyopathies and Heart Failure
Member, American Association of Physicians
Ware SM, Wilkinson JD, Tariq M, Schubert JA, Sridhar A, Colan SD, Shi L, Canter CE, Hsu DT, Webber SA, Dodd DA, Everitt MD, Kantor PF, Addonizio LJ, Jefferies JL, Rossano JW, Pahl E, Rusconi P, Chung WK, Lee T, Towbin JA, Lal AK, Bhatnagar S, Aronow B, Dexheimer PJ, Martin LJ, Miller EM, Sleeper LA, Razoky H, Czachor J, Lipshultz SE; Pediatric Cardiomyopathy Registry Study Group. Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study. J Am Heart Assoc. 2021 May 4;10(9):e017731. doi: 10.1161/JAHA.120.017731. Epub 2021 Apr 28. PMID: 33906374.
Xu F, Gao J, Munkhsaikhan U, Li N, Gu Q, Pierre JF, Starlard-Davenport A, Towbin JA, Cui Y, Purevjav E, Lu L. The Genetic Dissection of Ace2 Expression Variation in the Heart of Murine Genetic Reference Population. Front Cardiovasc Med. 2020 Nov 20;7:582949. doi: 10.3389/fcvm.2020.582949. PMID: 33330645; PMCID: PMC7714829.
Towbin JA, Beasley G. Left Ventricular Noncompaction and Vigorous Physical Activity: What Is the Connection? J Am Coll Cardiol. 2020 Oct 13;76(15):1734-1736. doi: 10.1016/j.jacc.2020.08.051. PMID: 33032734.
Beasley GS, Towbin JA. Acquired and modifiable cardiovascular risk factors in patients treated for cancer. J Thromb Thrombolysis. 2021 May;51(4):846-853. doi: 10.1007/s11239-020-02273-7. Epub 2020 Sep 12. PMID: 32918669.
Chen Y, Xu F, Munkhsaikhan U, Boyle C, Borcky T, Zhao W, Purevjav E, Towbin JA, Liao F, Williams RW, Bhattacharya SK, Lu L, Sun Y. Identifying modifier genes for hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2020 Jul;144:119-126. doi: 10.1016/j.yjmcc.2020.05.006. Epub 2020 May 26. PMID: 32470469.
Towbin JA. Pediatric Primary Dilated Cardiomyopathy Gene Testing and Variant Reclassification: Does It Matter? J Am Heart Assoc. 2020 Jun 2;9(11):e016910. doi: 10.1161/JAHA.120.016910. Epub 2020 May 27. PMID: 32458723; PMCID: PMC7429000.
Towbin JA, Lorts A, Jefferies JL. Left Ventricular Noncompaction Cardiomyopathy. Lancet 386(9995):813-25 2015.
Tandon A, Villa CR, Hor KN, Jefferies JL, Gao Z, Towbin JA, Wong BL, Mazur W, Fleck RJ, Sticka JJ, Benson DW, Taylor MD. Myocardial Fibrosis Burden Predicts Left Ventricular Ejection Fraction and is Associates with Steroid Treatment Duration in Duchenne Muscular Dystrophy. J Am Heart Assoc 4: pii: e001338. doi: 10.1161/JAHA.114.001338, Mar 26; 2015.
Burns KM, Byrne BJ, Gelb BD, Kuhn B, Leinwand LA, Mital S, Pearson GD, Rodefeld M, Rossano JW, Stauffer BL, Taylor MD, Towbin JA, Redington AN. New Mechanistic and Therapeutic Targets for Pediatric Heart Failure: Report from a National Heart, Lung, & Blood Institute Working Group. Circulation 130:79-86, 2014.
Maiellaro-Rafferty K, Wansapura JP, Mendsaikhan U, Osinska H, James JF, Taylor MD, Robbins J, Kranias EG, Towbin JA, Purevjav E. Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy. J Mol Cell Cardiol. 60C:151-160, 2013.
Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet. 21:2039-2053, 2012.
Purevjav E, Varela J, Morgado M, Kearney DL, Li H, Taylor MD, Arimura T, Moncman CL, McKenna W, Murphy RT, Labeit S, Vatta M, Bowles NE, Kimura A, Boriek AM, Towbin JA: Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. J Am Coll Cardiol. 56:1493-1502, 2010.
Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pillichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, Nava A, Bauce B, Thiene G, Basso C, Calkins H, Gear K, Marcus F, Towbin JA; Multidisciplinary study of right ventricular dysplasia investigators. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 55:587-597, 2010.
Jefferies JL, Towbin JA. Dilated cardiomyopathy. Lancet, 375:752-762, 2010.
Moulik M, Vatta M, Witt SH, Arola AM, Murphy RT, McKenna WJ, Boriek AM, Oka K, Labeit S, Bowles NE, Arimura T, Kimura A, Towbin JA. ANKRD1, the Gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. J Am Coll Cardiol. 54:325-333, 2009.
Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med 358: 1899-1908, 2008.
Qian L, Mohapatra B, Akasaka T, Liu J, Occor K, Towbin JA, Bodmer R. Transcription factor neuromancer/TBX20 is required for cardiac function in Drosophila with implications for human heart disease. Proc Natl Acad Sci, USA (PNAS) 105:19833-19838, 2008.
Towbin JA. Scarring in the heart: A reversible phenomenon? N. Engl J. Med, 351:1767-1768, 2007.
Yang Z, Bowles NE, Scherer SE, Taylor MD, Kearney DL, Ge S, Nadvoretskiy VV, Defreitas G, Carabello B, Brandon LI, Godsel LM, Green KJ, Saffitz JE, Li H, Danieli GA, Calkins H, Marcus F, Towbin JA. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Circ Res. 99:646-655, 2006.
Towbin JA, Lowe AM, Colan SD, Sleeper LA, Orav EJ, Clunie S, Messere J, Cox GF, Lurie P, Hsu D, Canter C, Wilkinson JD, Lipshultz SE. Incidence, causes and outcomes of dilated cardiomyopathy in children. JAMA, 296:1867-1876, 2006.
Bowles NE, Ni J, Kearney DL, Pauschinger M, Schultheiss HP, McCarthy R, Hare J, Bricker JT, Bowles KR, Towbin JA. Detection of viruses in myocardial tissues by polymerase chain reaction. evidence of adenovirus as a common cause of myocarditis in children and adults. J Am Coll Cardiol. 42:466-472, 2003.
Vatta M, Stetson SJ, Perez-Verdia A, Entman ML, Noon GP, Torre-Amione G, Bowles NE, Towbin JA. Molecular remodeling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistance device therapy. Lancet 2002 Mar 16;359(9310):936-41.
Towbin, JA, Bowle NE. The failing heart. Nature 415: 227-233, 2002.
Shirali GS, Ni J, Chinnock RE, Vander Dussen LK, Johnson JK, Bowles NB, Towbin JA. Association of viral genome with transplant coronary arteriopathy and graft loss in children following cardiac transplantation: Identification using PCR. N Engl J Med 344:1498-1503, 2001.
Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA. Characterization of mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 106:655-662, 2000.
