Steven B. Bleyl,
MD, PhD
Languages Spoken: English
Since completing an M.D./Ph.D focused on the genetics of human congenital heart defects, Dr. Bleyl maintains an active role in the study of the genetic causes of these birth defects, which affect as many as 1 in 100 live born children and weigh heavily on society both in their effect on society and in their impact on patients and families. In 2006 he received an NIH K08 award to study congenital defects of the pulmonary veins in humans and in a mouse model. This work identified defects in regulation of the PDGFRA gene as cause for human total anomalous pulmonary venous return (TAPVR). Currently, Dr. Bleyl’s research uses genetic mapping in extended Utah families and next-generation sequencing techniques to identify new genetic risk factors for congenital heart defects and other birth defects. His clinical practice mirrors his research, with a focus on heart defects, but also with specialization in hearing loss. In other academic pursuits, he is a lecturer in Embryology and is an author of Larsen’s Human Embryology (4th edition).
Clinical Locations
Specialties
Board Certification and Academic Information
| Academic Departments | Pediatrics
-
Adjunct Associate Professor |
| Academic Divisions | Pediatric Cardiology |
Since completing an M.D./Ph.D focused on the genetics of human congenital heart defects, Dr. Bleyl maintains an active role in the study of the genetic causes of these birth defects, which affect as many as 1 in 100 live born children and weigh heavily on society both in their effect on society and in their impact on patients and families. In 2006 he received an NIH K08 award to study congenital defects of the pulmonary veins in humans and in a mouse model. This work identified defects in regulation of the PDGFRA gene as cause for human total anomalous pulmonary venous return (TAPVR). Currently, Dr. Bleyl’s research uses genetic mapping in extended Utah families and next-generation sequencing techniques to identify new genetic risk factors for congenital heart defects and other birth defects. His clinical practice mirrors his research, with a focus on heart defects, but also with specialization in hearing loss. In other academic pursuits, he is a lecturer in Embryology and is an author of Larsen’s Human Embryology (4th edition).
Academic Locations
Board Certification and Academic Information
| Academic Departments | Pediatrics
-
Adjunct Associate Professor |
| Academic Divisions | Pediatric Cardiology |
Research Interests
- Fetal Heart
- Congenital Heart Defects
Education History
| Fellowship | University of Utah Medical Genetics Fellow, 2006 |
| Residency | University of Arizona Health Science Center Pediatrics Resident, 2003 |
| Professional Medical | University of Utah School of Medicine Medicine M.D., 2000 |
| Doctoral Training | University of Utah Human Genetics Ph.D., 1999 |
| Undergraduate | University of Utah Biology B.A., 1991 |
Selected Publications - Journal Articles
Journal Article
- Piroddi N, Pesce P, Scellini B, Manzini S, Ganzetti GS, Badi I, Menegollo M, Cora V, Tiso S, Cinquetti R, Monti L, Chiesa G, Bleyl SB, Busnelli M, Dellera F, Bruno D, Caicci F, Grimaldi A, Taramelli R, Manni L, Sacerdoti D, Tesi C, Poggesi C, Ausoni S, Acquati F, Campione M (2019). Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction. Cardiovasc Res.
- Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R (2019). Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. Mol Genet Genomic Med, 7(7), e00796.
- Carlston CM, Bleyl SB, Andrews A, Meyers L, Brown S, Bayrak-Toydemir P, Bale JF, Botto LD (2019). Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome. Am J Med Genet A, 179(5), 792-796.
- Van Dorn CS, Puchalski MD, Weng HY, Bleyl SB, Butterfield RJ, Williams RV (2018). DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy. Cardiol Young, 28(7), 910-915.
- Furlong-Dillard JM, Amula V, Bailly DK, Bleyl SB, Wilkes J, Bratton SL (2017). Use of Extracorporeal Membrane Oxygenation and Mortality in Pediatric Cardiac Surgery Patients With Genetic Conditions: A Multicenter Analysis. Pediatr Crit Care Med, 18(9), 850-858.
- Bowles NE, Jou CJ, Arrington CB, Kennedy BJ, Earl A, Matsunami N, Meyers LL, Etheridge SP, Saarel EV, Bleyl SB, Yost HJ, Yandell M, Leppert MF, Tristani-Firouzi M, Gruber PJ, Baylor Hopkins Centers for Mendelian Genomics (2015). Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A, 167A(12), 2975-84.
- Eckhauser A, South ST, Meyers L, Bleyl SB, Botto LD (2015). Turner Syndrome in Girls Presenting with Coarctation of the Aorta. J Pediatr, 167(5), 1062-6.
- Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P (2015). Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. Am J Med Genet A, 167A(8), 1747-57.
- Yetman AT, Starr LJ, Bleyl SB, Meyers L, Delaney JW (2015). Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. Pediatrics, 136(1), e262-6.
- Nash D, Arrington CB, Kennedy BJ, Yandell M, Wu W, Zhang W, Ware S, Jorde LB, Gruber PJ, Yost HJ, Bowles NE, Bleyl SB (2015). Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR). PLoS One, 10(6), e0131514.
- Hinton RB, McBride KL, Bleyl SB, Bowles NE, Border WL, Garg V, Smolarek TA, Lalani SR, Ware SM (2015). Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach. J Cardiovasc Dev Dis, 2(2), 76-92.
- Purnell SM, Bleyl SB, Bonkowsky JL (2014). Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. Pediatr Neurol, 50(6), 608-11.
- Bogarapu S, Bleyl SB, Calhoun A, Viskochil D, Saarel EV, Everitt MD, Frank DU (2014). Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum. Am J Med Genet A, 164A(5), 1304-9.
- Arrington CB, Bleyl SB, Brunelli L, Bowles NE (2013). Family-based studies to identify genetic variants that cause congenital heart defects. Future Cardiol, 9(4), 507-18.