D Woodrow Benson

Summary

Affiliation: Cincinnati Children's Hospital Medical Center
Country: USA

Publications

  1. pmc Aorta Measurements are Heritable and Influenced by Bicuspid Aortic Valve
    Lisa J Martin
    Division of Biostatistics and Epidemiology, Cincinnati Children s Hospital Medical Center Cincinnati, OH, USA
    Front Genet 2:61. 2011
  2. pmc Presence of mechanical dyssynchrony in Duchenne muscular dystrophy
    Kan N Hor
    The Heart and Vascular Center, The Christ Hospital, Cincinnati, Ohio, USA
    J Cardiovasc Magn Reson 13:12. 2011
  3. ncbi Genetics of atrioventricular conduction disease in humans
    D Woodrow Benson
    Division of Cardiology, ML7042, Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Anat Rec A Discov Mol Cell Evol Biol 280:934-9. 2004
  4. doi Genetic origins of pediatric heart disease
    D Woodrow Benson
    Department of Pediatrics, Cincinnati Children s Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, USA
    Pediatr Cardiol 31:422-9. 2010
  5. pmc Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    D Woodrow Benson
    Department of Pediatrics, Cincinnati Children s Hospital, Ohio, USA
    J Clin Invest 112:1019-28. 2003
  6. pmc Prevalence and distribution of late gadolinium enhancement in a large population of patients with Duchenne muscular dystrophy: effect of age and left ventricular systolic function
    Kan N Hor
    Nationwide Children s Hospital, Columbus, OH, USA
    J Cardiovasc Magn Reson 15:107. 2013
  7. pmc Left ventricular T2 distribution in Duchenne muscular dystrophy
    Janaka P Wansapura
    Division of Radiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    J Cardiovasc Magn Reson 12:14. 2010
  8. doi Detection of progressive cardiac dysfunction by serial evaluation of circumferential strain in patients with Duchenne muscular dystrophy
    Sean C Hagenbuch
    Department of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Am J Cardiol 105:1451-5. 2010
  9. ncbi Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations
    Lisa J Martin
    Center for Epidemiology and Biostatistics, University of Cincinnati, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Hum Genet 121:275-84. 2007
  10. pmc Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    J Am Coll Cardiol 53:1065-71. 2009

Detail Information

Publications62

  1. pmc Aorta Measurements are Heritable and Influenced by Bicuspid Aortic Valve
    Lisa J Martin
    Division of Biostatistics and Epidemiology, Cincinnati Children s Hospital Medical Center Cincinnati, OH, USA
    Front Genet 2:61. 2011
    ..In addition, our results suggest the presence of BAV independently influences the proximal Ao and pulmonary artery measures but not those in the descending Ao or MVA...
  2. pmc Presence of mechanical dyssynchrony in Duchenne muscular dystrophy
    Kan N Hor
    The Heart and Vascular Center, The Christ Hospital, Cincinnati, Ohio, USA
    J Cardiovasc Magn Reson 13:12. 2011
    ..We hypothesized that mechanical dyssynchrony is present in DMD patients and that cardiovascular magnetic resonance (CMR) may predict CRT efficacy...
  3. ncbi Genetics of atrioventricular conduction disease in humans
    D Woodrow Benson
    Division of Cardiology, ML7042, Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Anat Rec A Discov Mol Cell Evol Biol 280:934-9. 2004
    ....
  4. doi Genetic origins of pediatric heart disease
    D Woodrow Benson
    Department of Pediatrics, Cincinnati Children s Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, USA
    Pediatr Cardiol 31:422-9. 2010
    ..5, illustrate these accomplishments and at the same time provide a forecast of the nature of future genetic studies to better understand the origins of pediatric heart disease...
  5. pmc Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    D Woodrow Benson
    Department of Pediatrics, Cincinnati Children s Hospital, Ohio, USA
    J Clin Invest 112:1019-28. 2003
    ..Our findings reveal a molecular basis for some forms of congenital SSS and define a recessive disorder of a human heart voltage-gated sodium channel...
  6. pmc Prevalence and distribution of late gadolinium enhancement in a large population of patients with Duchenne muscular dystrophy: effect of age and left ventricular systolic function
    Kan N Hor
    Nationwide Children s Hospital, Columbus, OH, USA
    J Cardiovasc Magn Reson 15:107. 2013
    ..We sought to establish i) prevalence and distribution of LGE in a large DMD population and ii) relationship among LGE, age, LVEF by CMR and current living status...
  7. pmc Left ventricular T2 distribution in Duchenne muscular dystrophy
    Janaka P Wansapura
    Division of Radiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    J Cardiovasc Magn Reson 12:14. 2010
    ..T2 maps of the LV were generated for all subjects using a black blood dual spin echo method at two echo times. The full width at half maximum (FWHM) was calculated from a histogram of LV T2 distribution constructed for each subject...
  8. doi Detection of progressive cardiac dysfunction by serial evaluation of circumferential strain in patients with Duchenne muscular dystrophy
    Sean C Hagenbuch
    Department of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Am J Cardiol 105:1451-5. 2010
    ..Serial epsilon(cc) measurements might provide reliable monitoring of the progression of DMD-associated cardiac dysfunction before overt heart failure develops, because it is more sensitive than the EF...
  9. ncbi Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations
    Lisa J Martin
    Center for Epidemiology and Biostatistics, University of Cincinnati, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Hum Genet 121:275-84. 2007
    ..These regions likely contain genes whose mutation results in BAV and/or associated CVM indicating their important role in valvulogenesis and cardiac development...
  10. pmc Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    J Am Coll Cardiol 53:1065-71. 2009
    ..This study was designed to identify disease loci for hypoplastic left heart syndrome (HLHS) and evaluate the genetic relationship between HLHS and bicuspid aortic valve (BAV)...
  11. pmc Effects of steroids and angiotensin converting enzyme inhibition on circumferential strain in boys with Duchenne muscular dystrophy: a cross-sectional and longitudinal study utilizing cardiovascular magnetic resonance
    Kan N Hor
    The Heart Institute, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    J Cardiovasc Magn Reson 13:60. 2011
    ....
  12. ncbi A candidate locus approach identifies a long QT syndrome gene mutation
    Theresa A Beery
    College of Nursing, University of Cincinnati, Cincinnati, OH 45221 0038, USA
    Biol Res Nurs 5:97-104. 2003
    ..The candidate locus approach allowed an efficient mechanism to uncover the potassium channel mutation causing LQTS in this family...
  13. doi Comparison of magnetic resonance feature tracking for strain calculation with harmonic phase imaging analysis
    Kan N Hor
    Department of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    JACC Cardiovasc Imaging 3:144-51. 2010
    ....
  14. ncbi Hypoplastic left heart syndrome is heritable
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    J Am Coll Cardiol 50:1590-5. 2007
    ..This study sought to determine the size of the genetic effect (heritability) in families identified by a hypoplastic left heart syndrome (HLHS) proband...
  15. ncbi The genetic origin of atrioventricular conduction disturbance in humans
    D Woodrow Benson
    Division of Cardiology, OSB 4, Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
    Novartis Found Symp 250:242-52; discussion 252-9, 276-9. 2003
    ..These findings are significant as they provide insight into the molecular basis of a clinical condition previously defined only by biophysical characteristics...
  16. pmc Prenatal head growth and white matter injury in hypoplastic left heart syndrome
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Pediatr Res 64:364-9. 2008
    ..Brains from HLHS fetuses demonstrated chronic diffuse white matter injury of varying severity. These patterns of prenatal head growth and brain histopathology identify a spectrum of abnormal CNS development and/or injury in HLHS fetuses...
  17. doi Mouse heart valve structure and function: echocardiographic and morphometric analyses from the fetus through the aged adult
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Am J Physiol Heart Circ Physiol 294:H2480-8. 2008
    ....
  18. doi Abnormal circumferential strain is present in young Duchenne muscular dystrophy patients
    Thomas D Ryan
    Division of Pediatric Cardiology, The Heart Institute, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, MLC 2003, Cincinnati, OH 45229 3039, USA
    Pediatr Cardiol 34:1159-65. 2013
    ..These novel findings substantiate that the disease process is present and results in abnormal myocardial function before standard measures detect global dysfunction...
  19. ncbi Bicuspid aortic valve is heritable
    Linda Cripe
    Department of Pediatrics, Division of Cardiology, Cincinnati Children s Hospital, Ohio 45229, USA
    J Am Coll Cardiol 44:138-43. 2004
    ..Our objective was to statistically test whether the segregation pattern of BAV is consistent with genetic inheritance and to obtain an estimate of the size of the genetic effect (heritability)...
  20. pmc Left ventricular noncompaction in Duchenne muscular dystrophy
    Christopher J Statile
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    J Cardiovasc Magn Reson 15:67. 2013
    ..The objective of this study is to define the prevalence of LVNC in the Duchenne Muscular Dystrophy (DMD) population and characterize its relationship to global LV function...
  21. ncbi Polymorphic ventricular tachycardia and KCNJ2 mutations
    Terrence U H Chun
    Division of Cardiology, Children s Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA
    Heart Rhythm 1:235-41. 2004
    ..Arrhythmia documented during cardiac arrest is rapid ventricular tachycardia; ICD is effective therapy for cardiac arrest in patients with PVT due to KCNJ2 mutation...
  22. pmc Elastin haploinsufficiency results in progressive aortic valve malformation and latent valve disease in a mouse model
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Circ Res 107:549-57. 2010
    ..Because elastic fiber abnormalities are a central feature of degenerative valve disease, we hypothesized that elastin-insufficient mice would manifest viable heart valve disease...
  23. ncbi Neonatal long QT syndrome due to a de novo dominant negative hERG mutation
    Theresa A Beery
    University of Cincinnati, Cincinnati, Ohio 45221 0038, USA
    Am J Crit Care 16:416, 412-5. 2007
    ..The child was treated aggressively and is doing well at age 6 years...
  24. ncbi Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital, Cincinnati, Ohio 45229 3039, USA
    J Heart Valve Dis 15:352-5. 2006
    ..Histochemical analysis of the aortic valve revealed decreased and disorganized elastin with loss of the normal trilaminar cusp organization. These findings suggest that elastin has a role in the pathogenesis of semilunar valve disease...
  25. ncbi Outpatient continuous inotrope infusion as an adjunct to heart failure therapy in Duchenne muscular dystrophy
    Linda H Cripe
    Division of Cardiology, Cincinnati Children s Hospital Medical Center and the University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
    Neuromuscul Disord 16:745-8. 2006
    ..Continuous inotrope infusion should be considered a practical treatment strategy for end stage cardiac dysfunction in Duchenne muscular dystrophy patients when cardiac transplantation is not a viable option...
  26. pmc The presence of bicuspid aortic valve does not predict ventricular septal defect type
    Kan N Hor
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Am J Med Genet A 146:3202-5. 2008
    ..This may be due to phenotypic and genetic heterogeneity of BAV and VSD, other modifying factors as manifested by differences in associated CVM, as well as limitations of the clinical taxonomy of VSD...
  27. ncbi Genetic characterization of familial CPVT after 30 years
    Theresa A Beery
    University of Cincinnati, and Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45221 0038, USA
    Biol Res Nurs 11:66-72. 2009
    ..The objective of this study was the clinical and genetic characterization of the family of an individual initially diagnosed as a child in 1978...
  28. pmc Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease
    Kristen Lipscomb Sund
    Division of Cardiology, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Hum Mol Genet 18:1813-24. 2009
    ....
  29. ncbi Extracellular matrix remodeling and organization in developing and diseased aortic valves
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Circ Res 98:1431-8. 2006
    ....
  30. doi Risk factors for aortic valve disease in bicuspid aortic valve: a family-based study
    Troy J Calloway
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Ohio 45229 3039, USA
    Am J Med Genet A 155:1015-20. 2011
    ..BAV is determined largely by genetic effects, but the phenotypic variability of AVD is primarily determined by nongenetic factors. BAV morphology may have predictive value for the time course of AVD...
  31. pmc Circumferential strain analysis identifies strata of cardiomyopathy in Duchenne muscular dystrophy: a cardiac magnetic resonance tagging study
    Kan N Hor
    Department of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    J Am Coll Cardiol 53:1204-10. 2009
    ..This study sought to evaluate the natural history of occult cardiac dysfunction in Duchenne muscular dystrophy (DMD)...
  32. doi Electrocardiographic abnormalities in very young Duchenne muscular dystrophy patients precede the onset of cardiac dysfunction
    Jeanne James
    The Heart Institute, Cincinnati Children s Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, OH, USA
    Neuromuscul Disord 21:462-7. 2011
    ..ECG abnormalities are common in very young DMD patients, signaling cardiac involvement well before the onset of clinical symptoms...
  33. pmc KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes
    Gregor Andelfinger
    Department of Pediatrics, Children s Hospital Medical Center, University of Cincinnati, Cincinnati, OH, 45229, USA
    Am J Hum Genet 71:663-8. 2002
    ..1 current. These findings support the suggestion that, in addition to its recognized role in function of cardiac and skeletal muscle, KCNJ2 plays an important role in developmental signaling...
  34. ncbi The genetics of congenital heart disease: a point in the revolution
    D Woodrow Benson
    Division of Cardiology, Children s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45242, USA
    Cardiol Clin 20:385-94, vi. 2002
    ..Taken as a whole, the prospect of understanding the genetic basis of congenital heart disease and translating it into improved diagnostic and therapeutic strategies has never been better...
  35. ncbi Transcription factors and congenital heart defects
    Krista L Clark
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Annu Rev Physiol 68:97-121. 2006
    ..Here we review genetic, developmental, and biochemical studies of six cardiac transcription factors that have been identified as genetic causes for CHD in humans...
  36. ncbi Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome
    Walter H Johnson
    Department of Pediatrics, L M Bargeron Division of Pediatric Cardiology, University of Alabama at Birmingham, USA
    Pediatr Res 53:744-8. 2003
    ..The homozygous mutation results in absence of functional IKr, causing a profound loss of HERG channel function, creating the equivalent of a "HERG knockout" and leading to a severe phenotype...
  37. ncbi Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations
    Kerry A Shooner
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Ohio 45229 3039, USA
    J Pediatr 146:382-7. 2005
    ..2 (del22q11) syndrome. To better understand why deletions go unrecognized, we characterized the phenotype in deleted individuals in two large kindreds with particular emphasis on the presence or absence of CVM...
  38. ncbi Abnormalities of diastolic function precede dilated cardiomyopathy associated with Duchenne muscular dystrophy
    Larry W Markham
    Division of Pediatric Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    J Am Soc Echocardiogr 19:865-71. 2006
  39. pmc A novel method, the Variant Impact On Linkage Effect Test (VIOLET), leads to improved identification of causal variants in linkage regions
    Lisa J Martin
    1 Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA 2 Division of Biostatistics and Epidemiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA 3 Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, OH, USA
    Eur J Hum Genet 22:243-7. 2014
    ..In summary, VIOLET overcomes a barrier to gene discovery and thus may be broadly applicable to identify underlying genetic etiology for traits exhibiting linkage. ..
  40. pmc Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation
    Ji Kwon Park
    Department of Obstetrics and Gynecology, and Institute of Health Sciences, School of Medicine, Gyeongsang National University, Jinju, Republic of Korea
    Heart Rhythm 9:1090-6. 2012
    ..Risk-stratification schemes for SCN5A mutation carriers remain uncertain...
  41. doi Hypoplastic left heart syndrome: current considerations and expectations
    Jeffrey A Feinstein
    Department of Pediatrics, Stanford University School of Medicine, Lucile Salter Packard Children s Hospital, Palo Alto, California 94304, USA
    J Am Coll Cardiol 59:S1-42. 2012
    ..Issues surrounding the genetics of HLHS, developmental outcomes, and quality of life are addressed in addition to the many other considerations for caring for this group of complex patients...
  42. ncbi BMP and FGF regulatory pathways in semilunar valve precursor cells
    Bin Zhao
    Division of Cardiology, MLC 7042, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Dev Dyn 236:971-80. 2007
    ....
  43. doi Pulmonary vascular resistance in repaired congenital diaphragmatic hernia vs. age-matched controls
    Matthew E Zussman
    The Heart Institute, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Pediatr Res 71:697-700. 2012
    ..Infants and children with repaired congenital diaphragmatic hernia (CDH) often continue to show delayed growth and development that may be, in part, secondary to unrecognized persistence of increased pulmonary vascular resistance (PVR)...
  44. pmc Magnetic resonance imaging assessment of cardiac dysfunction in δ-sarcoglycan null mice
    Janaka P Wansapura
    Department of Radiology Imaging Research Center, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Neuromuscul Disord 21:68-73. 2011
    ..Our results demonstrate severe cardiac dysfunction in Scgd(-/-) mice at 8 months. The study identifies a set of non-invasive markers that could be used to study efficacy of novel therapeutic agents in dystrophic mice...
  45. ncbi Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block
    Dao W Wang
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tenn, and Department of Pediatrics, Medical University of South Carolina, Charleston, USA
    Circulation 105:341-6. 2002
    ..The mutations also reduce sodium current density and enhance slower inactivation components. Action potential simulations predict that this combination of biophysical abnormalities will significantly slow myocardial conduction velocity...
  46. ncbi NKX2.5 mutations in patients with congenital heart disease
    Doff B McElhinney
    The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Am Coll Cardiol 42:1650-5. 2003
    ..The purpose of this study was to estimate the frequency of NKX2.5 mutations in specific cardiovascular anomalies and investigate genotype-phenotype correlations in individuals with NKX2.5 mutations...
  47. ncbi Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block
    Mohammad Pashmforoush
    UCSD Institute of Molecular Medicine, University of California San Diego School of Medicine, La Jolla, CA 92093, USA
    Cell 117:373-86. 2004
    ..Accordingly, loss of ventricular muscle cell lineage specification into trabecular and conduction system myocytes is a new mechanistic pathway for progressive cardiomyopathy and conduction defects in congenital heart disease...
  48. ncbi Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies
    Hideko Kasahara
    Department of Physiology and Functional Genomics, University of Florida College of Medicine, Gainesville, FL 32610, USA
    Cardiovasc Res 64:40-51. 2004
    ..5 mutant proteins would result in the ability to classify mutations according to function in a scheme that would help to clarify genotype-phenotype correlations. We analyzed missense mutations in the conserved homeodomain...
  49. pmc Differentiation of cardiac Purkinje fibers requires precise spatiotemporal regulation of Nkx2-5 expression
    Brett S Harris
    Department of Cell Biology, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    Dev Dyn 235:38-49. 2006
    ..We conclude that a prerequisite for normal Purkinje fiber maturation is precise regulation of Nkx2-5 levels...
  50. pmc Thar's tendons in them thar valves!
    D Woodrow Benson
    Circ Res 103:914-5. 2008
  51. ncbi AHA/ACCF Scientific Statement on the evaluation of syncope: from the American Heart Association Councils on Clinical Cardiology, Cardiovascular Nursing, Cardiovascular Disease in the Young, and Stroke, and the Quality of Care and Outcomes Research Interdi
    S Adam Strickberger
    Circulation 113:316-27. 2006
  52. pmc Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
    Michael Arad
    Department of Genetics, Harvard Medical School and Howard Hughes Medical Institute, Boston, Massachusetts 02115, USA
    J Clin Invest 109:357-62. 2002
    ....
  53. pmc A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation
    Prakash C Viswanathan
    Department of Anesthesiology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    J Clin Invest 111:341-6. 2003
    ..The mutation and the polymorphism were both found in the same allele of a child with isolated conduction disease, suggesting a direct functional association between a polymorphism and a mutation in the same gene...
  54. ncbi Bidirectional ventricular tachycardia and channelopathy
    Preecha Laohakunakorn
    Bumgrad Hospital, Bangkok, Thailand
    Am J Cardiol 92:991-5. 2003
    ..Genes causing long QT syndrome were used as candidate genes in 4 patients with bidirectional ventricular tachycardia. In 2 patients, we identified a common low penetrance HERG allele (R1047L) with an intermediate biophysical phenotype...
  55. pmc Spectrum of heart disease associated with murine and human GATA4 mutation
    Satish K Rajagopal
    Department of Cardiology, Children s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA
    J Mol Cell Cardiol 43:677-85. 2007
    ..Additional studies will be required to determine the degree to which GATA4 mutation contributes to human CHD characterized by ECD or RV hypoplasia...
  56. ncbi Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics
    Mary Ella Pierpont
    Children s Hospital of Minnesota and University of Minnesota, USA
    Circulation 115:3015-38. 2007
    ....
  57. ncbi An intronic mutation causes long QT syndrome
    Li Zhang
    LDS Hospital, Salt Lake City, Utah 84103, USA
    J Am Coll Cardiol 44:1283-91. 2004
    ..The purpose of this research was to determine whether an intronic variant (T1945+6C) in KCNH2 is a disease-causing mutation, and if expanded phenotyping criteria produce improved identification of long QT syndrome (LQTS) patients...
  58. ncbi TBX5: a developmental key that fits many locks
    Katherine E Yutzey
    J Mol Cell Cardiol 35:1175-7. 2003
  59. ncbi Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype
    Li Zhang
    LDS Hospital, 324 10th Ave, Suite 130, Salt Lake City, Utah 84103, USA
    Circulation 111:2720-6. 2005
    ..This study aimed to define ECG features of KCNJ2 mutation carriers, to determine whether characteristic T-U-wave patterns exist, and to establish whether T-U patterns predict the ATS1 genotype...
  60. pmc Sudden infant death syndrome and long QT syndrome: the zealots versus the naysayers
    William L Border
    Heart Rhythm 4:167-9. 2007
  61. ncbi AHA/ACCF scientific statement on the evaluation of syncope: from the American Heart Association Councils on Clinical Cardiology, Cardiovascular Nursing, Cardiovascular Disease in the Young, and Stroke, and the Quality of Care and Outcomes Research Interdi
    S Adam Strickberger
    J Am Coll Cardiol 47:473-84. 2006
  62. ncbi Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome
    Leomar Y Ballester
    Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37027 0275, USA
    Hum Mutat 27:388. 2006
    ..C101R) exhibited impaired trafficking. Our results demonstrate functional consequences of two novel trafficking-competent KCNJ2 mutations associated with Andersen syndrome and expand our knowledge of allelic diversity in this disease...

Research Grants5

  1. Genetic Mechanisms of Cardiac Disease in the Young
    D Benson; Fiscal Year: 2007
    ..Receipt of the Mid-Career Award in patient-oriented research will allow the Candidate to devote 50% effort to research and mentoring in patient-oriented research. ..
  2. Preoperative Therapy for Prevention of Postoperative Low Cardiac Output Syndrome
    D Benson; Fiscal Year: 2007
    ..Completion of the proposed studies should greatly improve our understanding of ischemia-reperfusion injury and therapies to prevent LCOS following surgery with cardiopulmonary bypass in infants. (End of Abstract) ..