BS: University of Georgia, 1997

MD: Medical College of of Georgia, 2001

Residency: Pediatrics, Cincinnati Children's Hospital Medical Center. Cincinnati, OH.

Cardiology Fellowship: Pediatric Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

Fellowship Subspecialty Training: Pediatric Pacing and Electrophysiology, Boston Children's Hospital, Boston, MA.

Walsh MA, Grenier MA, Jefferies JL, Towbin JA, Lorts A, Czosek RJ. Conduction Abnormalities in Pediatric Patients with Restrictive Cardiomyopathy. Circ Heart Fail. 2012 Jan 19. [Epub ahead of print]

Walsh MA, Anderson JB, Knilans TK, Cottrill CM, Czosek RJ.Ventricular Oversensing in a Biventricular Pacemaker. Pacing Clin Electrophysiol. 2012 Jan 13 [Epub ahead of print]

Czosek RJ, Meganathan K, Anderson JB, Knilans TK, Marino BS, Heaton PC. Cardiac rhythm devices in the pediatric population: Utilization and complications. Heart Rhythm. 2012 Feb;9(2):199-208.

Czosek RJ, Anderson JB, Marino BS, Mellion K, Knilans TK. Noninvasive risk stratification techniques in pediatric patients with ventricular preexcitation. Pacing Clin Electrophysiol. 2011;34:555-562.

Czosek RJ, Haaning A, Ware SM. A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. Pediatr Res. 2010;68:275-280.

Czosek RJ, Atallah J, Emani S, Hasan B, del Nido P, Berul CI. Electrical dyssynchrony and endocardial fibroelastosis resection in the rehabilitation of hypoplastic left cardiac syndrome. Cardiol Young. 2010;20:516-52.

Czosek RJ, Anderson JB, Cao J, Knilans TK. Assessment of t-wave oversensing in an infant with an implanted defibrillator. Heart Rhythm. 2010;7:1516-1517

Czosek RJ, Anderson J, Marino BS, Connor C, Knilans TK. Linear lesion cryoablation for the treatment of atrioventricular nodal re-entry tachycardia in pediatrics and young adults. Pacing Clin Electrophysiol. 2010;33:1304-131.

Czosek RJ, Anderson J, Connor C, Knilans T. Nodoventricular pathway associated with twin AV nodes: Complexity of ablation in single ventricle physiology. J Cardiovasc Electrophysiol. 2010;21:936-939.

Czosek RJ, Berul CI. Congenital long-QT syndrome concealed by hypercalcemia in Williams syndrome. J Cardiovasc Electrophysiol. 2008;19:1322-1324.

Clinical Interests

Genetic and syndromic conditions affecting the heart; health care maintenance of individuals with syndromic disorders; 22q11.2 Deletion Syndrome

Research Interests

Application of genomic and clinical research methods in syndromic populations
 

Heritable causes of vascular disease, novel drug therapies for advanced heart failure, novel gene discovery in cardiomyopathy, characterization and management of left ventricular noncompaction (LVNC), and early diagnosis and management of chemotherapy induced cardiotoxicity. 

Jefferies JL, Towbin JA. Dilated cardiomyopathy. Lancet. 2010 Feb;375(9716):752-62.

Breinholt JP, Moulik M, Dreyer WJ, Denfield SW, Kim JJ, Jefferies JL, Rossano JW, Gates CM, Clunie SK, Bowles KR, Kearney DL, Bowles NE, Towbin JA. Viral epidemiologic shift in inflammatory heart disease: the increasing involvement of parvovirus B19 in the myocardium of pediatric cardiac transplant patients. J Heart Lung Transplant. 2010 Jul;29(7):739-46.

Rossano JW, Morales DL, Zafar F, Denfield SW, Kim JJ, Jefferies JL, Dreyer WJ. Impact of antibodies against human leukocyte antigens on long-term outcome in pediatric heart transplant patients: An analysis of the United Network for Organ Sharing database. J Thorac Cardiovasc Surg. 2010 May 26.

Carlson P, Jefferies JL, Kearney D, Russell H. Refractory dilated cardiomyopathy associated with metastatic neuroblastoma. Pediatr Blood Cancer. 2010 Jun 29.

Shah AM, Jefferies JL, Rossano JW, Decker JA, Cannon BC, Kim JJ. Electrocardiographic abnormalities and arrhythmias are strongly associated with the development of cardiomyopathy in muscular dystrophy.Heart Rhythm. 2010 Jun 18.

Moulik M, Breinholt JP, Dreyer WJ, Kearney DL, Price JF, Clunie SK, Moffett BS, Kim JJ, Rossano JW, Jefferies JL, Bowles KR, O'Brian Smith E, Bowles NE, Denfield SW, Towbin JA. Viral Endomyocardial Infection Is an Independent Predictor and Potentially Treatable Risk Factor for Graft Loss and Coronary Vasculopathy in Pediatric Cardiac Transplant Recipients. J Am Coll Cardiol. 2010 56:582-592.

Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F. Milder Clinical Course of Type IV 3-Methylglutaconic Aciduria Due to a Novel Mutation in TMEM70. Mol Genet Metab. 2010 101:282-285.

Foerster SR, Canter CE, Cinar A, Sleeper LA, Webber SA, Pahl E, Kantor PF, Alvarez JA, Colan SD, Jefferies JL, Lamour JM, Margossian R, Messere JE, Rusconi PG, Shaddy RE, Towbin JA, Wilkinson JD, Lipshultz SE. Ventricular Remodeling and Survival are More Favorable for Myocarditis than for Idiopathic Dilated Cardiomyopathy in Childhood: An Outcomes Study from the Pediatric Cardiomyopathy Registry. Circ Heart Fail. 2010.

Jefferies JL, Price JF, Morales DL. Mechanical support in childhood heart failure. Heart Fail Clin. 2010 Oct;6(4):559-73.

Jefferies JL, Hoffman TM, Nelson DP. Heart failure treatment in the intensive care unit in children. Heart Fail Clin. 2010 Oct;6(4):531-58.

Clinical Interests

Heart failure; cardiopulmonary bypass mediated myocardial dysfunction

Research Interests

Myocardial remodeling

Lorts A, Burroughs T, Shanley TP. Elucidating the role of reversible protein phosphorylation in sepsis-induced myocardial dysfunction. Shock. 2009 Jul;32(1):49-54. Review.

Lorts A, Schwanekamp JA, Elrod JW, Sargent MA, Molkentin JD. Genetic manipulation of periostin expression in the heart does not affect myocyte content, cell cycle activity, or cardiac repair.Circ Res. 2009 Jan 2;104(1):e1-7.

Oka T, Xu J, Kaiser RA, Melendez J, Hambleton M, Sargent MA, Lorts A, Brunskill EW, Dorn GW 2nd, Conway SJ, Aronow BJ, Robbins J, Molkentin JD. Genetic manipulation of periostin expression reveals a role in cardiac hypertrophy and ventricular remodeling.Circ Res. 2007 Aug 3;101(3):313-21.

McLean KM, Lorts A, Pearl JM. Current treatments for congenital aortic stenosis. Curr Opin Cardiol. 2006 May;21(3):200-4. Review.

BS: Biology, University of Cincinnati, 1974.

MS: Cell Biology, University of Cincinnati, 1977.

MD: University of Cincinnati, 1982.

Residency: Pediatrics, Cincinnati Children's Hospital Medical Center, 1985.

Fellowship: Pediatric Cardiology, Baylor College of Medicine, Texas Children's Hospital, 1989.

McBride KL, Zender GA, Fitzgerald-Butt SM, Seagraves NJ, Fernbach SD, Zapata G, Lewin M, Towbin JA, Belmont JW. Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. Birth Defects Res A Clin Mol Teratol. 2011 Mar;91(3):162-8.

Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2915-20. 

Goldenberg I, Horr S, Moss AJ, Lopes CM, Barsheshet A, McNitt S, Zareba W, Andrews ML, Robinson JL, Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Napolitano C, Platonov PG, Priori SG, Qi M, Schwartz PJ, Shimizu W, Towbin JA, Vincent GM, Wilde AA, Zhang L. Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol. 2010 Dec 28;57(1):51-9.

Towbin JA, Ware SM, Jefferies JL. Heart transplants in pediatric patients: viral infection as a loss predictor. Future Cardiol. 2010 Nov;6(6):735-41.

Foerster SR, Canter CE, Cinar A, Sleeper LA, Webber SA, Pahl E, Kantor PF, Alvarez JA, Colan SD, Jefferies JL, Lamour JM, Margossian R, Messere JE, Rusconi PG, Shaddy RE, Towbin JA, Wilkinson JD, Lipshultz SE. Ventricular remodeling and survival are more favorable for myocarditis than for idiopathic dilated cardiomyopathy in childhood: an outcomes study from the Pediatric Cardiomyopathy Registry. Circ Heart Fail. 2010 Nov 1;3(6):689-97.

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. 2010 Oct 26;56(18):1493-502.

Towbin JA. Left ventricular noncompaction: a new form of heart failure. Heart Fail Clin. 2010 Oct;6(4):453-69

Towbin JA. Preface: Heart failure in children. Heart Fail Clin. 2010 Oct;6(4):xvii-iii.

Wilkinson JD, Landy DC, Colan SD, Towbin JA, Sleeper LA, Orav EJ, Cox GF, Canter CE, Hsu DT, Webber SA, Lipshultz SE. The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin. 2010 Oct;6(4):401-13

Towbin JA. Hypertrophic cardiomyopathy. Pacing Clin Electrophysiol. 2009 Jul;32 Suppl 2:S23-31. 

Clinical genetics; cardiovascular genetics; cardiomyopathy; cardiovascular development

MD, PhD: University of Cincinnati College of Medicine, Cincinnati, OH,1997.

Residency: Pediatrics, Baylor College of Medicine, 2002.

Fellowship: Medical Genetics, Baylor College of Medicine, 2002.

American Board of Pediatrics, 2000, 2007.

American Board of Medical Genetics in Clinical Genetics, 2002.

Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2012. Epub ahead of print.

Bedard JEJ, Haaning AM, Ware SM. Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease patients. PLoS One. 2011;6(8):e23755.

Czosek RJ, Haaning A, Ware SM. A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. Pediatr Res. 2010;68:275-280.

Sutherland M, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17.

Ware SM*, El-Hassan N, Kahler SG, Zhang Q, Ma Y-M, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong L-J. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46: 308-314.  *corresponding author

Kogan JM, Miller E, Ware SM. High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia. Am J Med Genet. 2009;149A: 887-893.

Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009;18: 861-871.

Ware SM*, Quinn M, Ballard ET, Miller E, Uzark K, Spicer RL. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet. 2008;73: 165-170.         *corresponding author 

Bedard JEJ, Purnell JD, Ware SM. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. Hum Mol Genet. 2007;16: 187-198.

Ware SM, Harutyunyan KG, Belmont JW. Heart defects in X linked heterotaxy: evidence for a genetic interaction of Zic3 with the Nodal signaling pathway. Dev Dyn. 2006 Jun;235:1631-1637.