Education
MS – University of Cincinnati, Cincinnati, Ohio
MD – University of Cincinnati College of Medicine, Cincinnati, Ohio
Internship – Children’s Hospital Medical Center, Cincinnati Ohio
Residency – Children’s Hospital Medical Center, Cincinnati Ohio
Fellowship – The Lillie Frank Abercrombie Section of Pediatric Cardiology, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas
Clinical Interests
- Pediatric Cardiology
Selected Publications
Towbin JA, Jefferies JL. Response by Towbin and Jefferies to Letter Regarding Article, "Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism". Circ Res. 2017 Dec 8;121(12):e90. doi: 10.1161/CIRCRESAHA.117.312209, 2017.
Farhad H, Seidelmann SB, Vigneault D, Abbasi SA, Yang E, Day SM, Colan SD, Russell MW, Towbin JA, Sherrid MV, Canter CE, Jerosch-Herold M, Bluemke DA, Ho C, Neilan TG. Left Atrial Structure and Function in Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers with and without Left Ventricular Hypertrophy. J Cardiovasc Magnet Reson (in press, 2017), 2017.
Ho JE, Shi L, Day SM, Colan SD, Russell MW, Towbin JA, Sherrid MV, Canter CE, Jefferies JL, Murphy A, Taylor M, Mestroni L, Cirino AL, Sleeper LA, Jarolim P, Lopez B, Gonzalez A, Diez J, Orav EJ, Ho CY. Biomarkers of cardiovascular stress and fibrosis in preclinical hypertrophic cardiomyopathy. Open Heart. 2017 Nov 1;4(2):e000615. doi: 10.1136/openhrt-2017-000615. eCollection 2017.
Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, Belmont JW.. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med. 2017 Oct 31;9(1):95.
Singh RK, Canter CE, Shi L, Colan SD, Dodd DA, Everitt MD, Jefferies JL, Kantor PF, Pahl E, Rossano JW, Towbin JA, Wilkinson JD, Lipshultz SE, for the Pediatric Cardiomyopathy Registry Investigators. Survival without Cardiac Transplantation Among Children with Dilated Cardiomyopathy, from the Pediatric Cardiomyopathy Registry. J Am Coll Cardiol 2017 Nov 28;70(21):2663-2673, 2017.
Patel MD, Mohan J, Schneider C, Bajpai G, Purevjav E, Canter CE, Towbin J, Bredemeyer A, Lavine KJ. Pediatric and adult dilated cardiomyopathy represent distinct pathological entities. JCI Insight. 2017 Jul 20;2(14). pii: 94382. doi: 10.1172/jci.insight.94382. [Epub ahead of print], 2017.
Towbin JA, Jefferies JL. Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism. Circ Res. 2017 Sep 15;121(7):838-854.
Mohsen Naghavi, Amanuel Alemu Abajobir, et.al. Pediatric Cardiomyopathies. Circ Res. 2017 Sep 15;121(7):855-873.
Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 173(8):2176-2188, 2017 [Epub ahead of print, Jun 27, 2017], 2017.
Niss O, Fleck R, Makue F, Alsaied T, Desai P, Towbin JA, Malik P, Taylor MD, Quinn CT. Association between diffuse myocardial fibrosis and diastolic dysfunction in sickle cell anemia. Blood. 2017 Jul 13;130(2):205-213. [Epub ahead of print. May 15, 2017], 2017.
Gu Q, Mendsaikhan U, Khuchua Z, Jones B, Lu L, Towbin JA, Xu B, Purevjav E. Dissection of Z-Disk Myopalladin Gene Network in the Development of Restrictive Cardiomyopathy Using System Genetics Approach. World J Cardiol 2017, Apr 26;9(4):320-331, 2017.
Parent JJ, Darragh RK, Gossett JG, Ryan TD, Villa CR, Lorts A, Jefferies JL, Towbin JA, Chin C. Strategies to Prevent Cast Formation in Patients with Plastic Bronchitis Undergoing Heart Transplantation. Pediatr Cardiol 2017, Jun;38(5):1077-1079. [Epub ahead of print, January 19, 2017], 2017.
Rusconi P, Wilkinson JD, Sleeper LA, Lu M, Cox GF, Towbin JA, Colan SD, Webber SA, Canter CE, Ware SM, Hsu D, Chung WK, Jefferies JL, Cordero C, Lipshultz SE, for the Pediatric Cardiomyopathy Registry Investigators. Differences in Presentation and Outcomes Between Children with Familial Dilated Cardiomyopathy and Children with Idiopathic Dilated Cardiomyopathy: A Report From the Dilated Cardiomyopathy Registry Investigators. Circ Heart Fail. 2017 Feb;10(2). pii: e002637. doi: 10.1161/CIRCHEARTFAILURE.115.002637.
Ho CY, Day SM, Colan SD, Russell MW, Towbin J, Sherrid MV, Canter CE, Jefferies JL, Murphy A, Abraham TP, Taylor M, Mestroni L, Cirino AL, Bluemke DA, Jarolim P, Shi L, Sleeper LA,. Seidman CE, Orav EJ, for the HCMNet Investigators. The Burden of Early Phenotypes and the Impact of Left Ventricular Wall Thickness on Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers: Findings from the HCMNet Study. JAMA Cardiol, 2017 Apr 1;2(4):419-428, 2017.
Finsterer J, Stollberger C, Towbin JA. Left Ventricular Noncompaction Cardiomyopathy: Cardiac, Neuromuscular, and Genetic Factors. Nat Rev Cardiol 2017 Apr; 14(4):224-237, 2017.
Ryan TD, Madueme PC, Jefferies JL, Michelfelder EC, Towbin JA, Woo JG, Sahay RD, King EC, Brown R, Moore RA, Grenier MA, Goldstein BH. Utility of Echocardiography in the Assessment of Left Ventricular Diastolic Function and Restrictive Physiology in Children and Young Adults with Restrictive Cardiomyopathy: A Comparative Echocardiography-Catheterization Study. Pediatr Cardiol 2017 Feb;38(2):381-389. [Epub ahead of print. November 23, 2016], 2017.
Miyatake S, Mitsuhashi S, Yukiko K. Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin JA, Nonaka I, Nishino I, Matsumoto N. Biallelic Mutations in the Myopalladin Gene, MYPN are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. Am J Hum Genet 2017, 100 (1):169-178, 2017.
Last update: March 2018