D. Woodrow Benson, MD, PhD
Title
Director, Cardiovascular Genetics
Appointment
Professor
Email
woody.benson@cchmc.org
Phone
513-636-0389
Fax
513-636-2410
Credentials
MS: Emory University, 1967.
PhD: University of North Carolina, 1970.
MD: Duke University, 1972.
Residency: Pediatrics, Duke University.
Fellowship: Cardiology, Duke University.
Certification: Pediatrics, 1976; Cardiology, 1977.
Recertification: Pediatrics and Cardiology, 1993; Pediatrics, Pediatric Cardiology.
Awards and Honors
- Best Doctors in America, 2008
- Awarded "2005 Best Doctors"
- Awarded "2004 Best Doctors"
- Awarded "2003 Best Doctors"
- The Country's Best Heart Doctors, Good Housekeeping, 1996
- Helen B. Taussig Memorial Lecture, American Heart Association, 2003
Research
Who says only old people get heart disease?
Cardiovascular disease in the young, which includes congenital heart defects, cardiomyopathy and disorders of heart rhythm (arrhythmias), is an important cause of morbidity and mortality.
My laboratory uses a "bedside-to-bench and back" approach to determine the molecular genetic basis of cardiovascular disease in the young. Our goal is to identify genes and their mutations that cause heart disease in the young.
In order to learn more about how the gene mutation leads to heart malformation or dysfunction, we seek to study mutant gene malfunction in a model system (in vitro assay, cell culture, etc).
Ongoing studies utilize genetic linkage analysis in kindreds (human and canine), positional cloning, characterization of genotype-phenotype relations of heart disease causing mutations.
Identification of gene mutations causing cardiovascular disease in the young, characterization of genotype-phenotype relations and illustration of the functional effects of the mutations will provide important insight into disease pathophysiology; such insight promises to lead to improved diagnosis and therapy.
Research Grants and Contracts
NIH P50 HL74728: SCCOR in Pediatric Heart Development and Disease, 2004-2008, PI: D.W. Benson
NIH P01 HD39946: "Patterning by Invasive Mesenchyme in the Embryonic Heart". PI of Project 1 (The genetic origin of structural and functional defects of atrioventricular conduction in humans), 2001-2006
NIH K24 HL/HD69712: "Genetic mechanisms of cardiac disease in the young", 2001-2006, PI: Benson DW
Publications, Most Recent
Viswanathan PC, Benson DW, Balser JR. A common sodium channel polymorphism modulates the biophysical effects of an SCN5A mutation in a patient with cardiac conduction disease.J Clin Invest 2003;111:341-46.
Johnson WH, Yang P, Yang T, Lau YR, Mostella BA, Wolff DJ, Roden DM, Benson DW. Clinical, genetic and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.Ped Res 2003;53:744-748.
Andelfinger, G, Wright K, Lee H-S, Siemens L, Benson DW. Canine tricuspid valve malformation, the canine equivalent of Ebstein anomaly, maps to dog chromosome 9.J Med Genet 2003;40:320-324.
McElhinney D B, Geiger E, Blinder J, Benson, DW, Goldmuntz E. NKX2. 5 mutations in patients with congenital heart disease.J Am Coll Cardiol 2003;42:1650-1655.
Andelfinger G, Etter L, Dyment M, Hitte C, Galibert F, Kirkness E, Benson DW. Radiation hybrid mapping and genomic organization of canine TBX2/TBX4.Animal Genet 2003;34:307-309.
Laohakunakorn P, Benson DW, Yang P, Yang T, Roden DM, Kugler JK. Bidirectional ventricular tachycardia and channelopathy.Am J Cardiol 2003;92:991-995.
Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George, Jr AL. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).J Clin Invest 2003;112:1019-1028.
Beery TA, Dyment M, Shooner K, Knilans TK, Benson DW. A candidate locus approach identifies a long QT syndrome gene mutation.Bio Res for Nursing 2003;5:97-104.
Andelfinger G, Hitte C, Etter L, Guyon R, Bourque G, Tesler G, Pevzner P, Kirkness E, Galibert F, Benson DW. Detailed four-way comparative mapping and gene order analysis of the canine ctvm locus reveals evolutionary chromosome rearrangements.Genomics 2004;83:1053-1062.
Chun TUH, Epstein MR, Dick, II M, Andelfinger G, Ballester L, Vanoye CG, George, Jr AL, Benson DW. Polymorphic ventricular tachycardia and KCNJ2 mutations.HeartRhythm 2004;1:236-244.
Pashmforoush M, Lu JT, Chen H, St. Amand T, Kondo R, Pradervand S, Evans SM, Clark B, Feramisco JR, Giles W, Ho SY, Benson DW, Silberbach M, Shou W, Chien KR. Nkx 2.5 pathways and congenital heart disease: loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block.Cell 2004;117:373-86.
Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW. Bicuspid aortic valve is heritable.J Am Coll Cardiol 2004;44:138-143.
Kasahara H, Benson DW. Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing cardiac malformations and atrioventricular block.Cardiovasc Res 2004;64:40-51.
Zhang L, Vincent GM, Baralle M, Baralle FE, Anson BD, Benson DW, Whiting B, Timothy KW, Carlquist J, January CT, Keating MT, Splawski I. An intronic mutation causes long QT syndrome.J Am Coll Cardiol 2004;44:1283-91.
Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Ackerman MJ, Sanguinetti M, Vincent GM. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations. Characteristic T-U wave patterns predict the KCNJ2 genotype. Circulation 2005;111:2720-26.
Shooner KA, Rope AF, Hopkin RJ, Andelfinger GU, Benson DW. Genetic analyses in two extended families with deletion 22q11 syndrome: Importance of extracardiac manifestations. J Peds 2005:146:382-387.
Presentations, Most Recent
How to identify the genetic cause of cardiovascular disease in the young? 14th Scientific Sessions of the Saudi Heart Association. Al Khobar, Saudi Arabia January 23, 2003.
What have we learned about the genetics of congenital heart disease? 14th Scientific Sessions of the Saudi Heart Association. Al Khobar, Saudi Arabia January 23, 2003.
The genetic basis of atrioventricular block. Cardiology Rounds. Sainte Justine Hospital for Children, Montreal, Quebec. February 26, 2003.
Cardiac disease in the young. Getting from phenotype to genotype. Pediatric Grand Rounds. Sainte Justine Hospital for Children, Montreal, Quebec. February 26, 2003.
Inherited myopathies and sudden cardiac death. 24th Scientific Sessions North American Society of Pacing and Electrophysiology. Washington, DC May 15, 2003.
Genetic origins of cardiac arrhythmias in the young: from ATG to TGA. Taussig Memorial Lecture. Scientific Sessions 2003. American Heart Association. Orlando, FL November 9, 2003.
Genetics of pediatric heart disease. Where are we now? Pediatric Residents Education Day. Columbus, OH November 19, 2003.
SCN5A and the genetic origins of cardiac arrhythmias in the young. Pediatric Fellow Rounds. Mount Sinai Medical Center, New York, NY. January 13, 2004.
NKX2.5 and the genetic origins of pediatric heart disease. CMIER Research Conference. Children's Memorial Hospital, Chicago, Ill. February 12, 2004.
Genetic origins of cardiac arrhythmias in the young. Keystone Conference. Keystone, CO. March 9, 2004.
Genetic origins of polymorphic ventricular tachycardia in the young. Omaha EP Journal Club presentation. Omaha, NE. March 25, 2004.
SCN5A and cardiac arrhythmias in the young. University of Nebraska EP Conference. Omaha, NE. March 26, 2004.
Genetics of AV conduction disease in humans. FASEB Meeting 2004. Washington, DC. April 19, 2004.
The molecular basis of syndromic congenital heart disease: overview. Pediatric Academic Societies Meeting. San Francisco, CA May 1, 2004.
NKX2.5 and the genetic origins of pediatric heart disease. Emory University. Atlanta, GA. October 4, 2004.
Arteries, valves and molecular genetics. American Academy of Pediatrics. San Francisco, CA. October 10, 2004.
NKX2.5 and the genetic origins of pediatric heart disease. Sick Childrens' Hospital. Toronto, ON. January 13, 2005.
Pediatric heart disease and family history: Lessons learned from molecular genetic studies. Grand rounds, Winner Memorial Lecture. University of Maryland, Baltimore, MD. January 27, 2005.
Translational research opportunities in pediatric heart disease. Physician Scientist Training Program. University of Cincinnati, Cincinnati, OH. February 4, 2005.
SCN5A and the genetic origins of cardiac arrhythmias in the young. Genetic Focus Group. Children's Hospital of Philadelphia. Philadelphia, PA, March 22, 2005.
Pediatric heart disease and family history: Lessons learned from molecular genetic studies. Cardiology Seminar Series. Children's Hospital of Philadelphia. Philadelphia, PA, March 23, 2005.
Atrial septal defect and conduction disorders. 26th Annual Scientific Sessions of the Heart Rhythm Society. New Orleans, LA, May 5, 2005.
New insights into the etiology of congenital heart disease. Alfred I. DuPont Hospital for Children and 2005 Nemours Cardiac Research Symposium. Wilmington, DE, June 1, 2005.
Professional Organization Memberships
Special Interests
Genetic basis of pediatric heart disease
Personal Statement
Who says only old people get heart disease? Cardiovascular disease in the young, which includes congenital heart defects, cardiomyopathy and disorders of heart rhythm (arrhythmias), is an important cause of morbidity and mortality. My laboratory uses a "bedside-to-bench and back" approach to determine the molecular genetic basis of cardiovascular disease in the young. Our goal is to identify genes and their mutations that cause heart disease in the young.
In order to learn more about how the gene mutation leads to heart malformation or dysfunction, we study gene function in a model system (in vitro assay, cell culture, etc). Ongoing studies utilize genetic linkage analysis in kindreds (human and canine), characterization of genotype-phenotype relations of mutations in NKX2.5, a cardiac specific homeobox transcription factor, and characterization of mutant AMP-activated protein kinase, a recently identified cause of life-threatening cardiac arrhythmias. Identification of gene mutations causing cardiovascular disease in the young, characterization of genotype-phenotype relations and illustration of the functional effects of the mutations will provide important insight into disease pathophysiology; such insight promises to lead to improved diagnosis and therapy.
Presentations, Most Recent
For more presentations, please see Dr. Benson's Molecular Cardiovascular Biology Page.
Benson DW, Lu P, Brabbham M, Herrell L. Novel human SCN5A mutations that cause atrioventricular block. Presented at the Southeastern Pediatric Cardiology Society Annual Meeting, Charlotte, NC, Sept. 2000.
Benson DW, Majarais M, Geiger EA, Figueroa MI, Shirali GS, Goldmuntz E. Missense mutations in the amino- or carboxyterminus of human NKX2.5 do not have an atrioventricular block phenotype. Presented at 73rd Scientific Sessions of the American Heart Association, Nov. 2000.
Benson DW, Lu P, Brabham MD, Herrell LL. Novel human SCN5A mutations that cause atrioventricular block. Presented at 73rd Scientific Sessions of the American Heart Association. Nov. 2000.
Related Areas
This person works in these other areas at Cincinnati Children's Hospital Medical Center:
