congenital heart defects

Summary

Summary: Imperfections or malformations of the heart, existing at birth.

Top Publications

  1. ncbi Maternal use of antihypertensive drugs in early pregnancy and delivery outcome, notably the presence of congenital heart defects in the infants
    Roland Lennestål
    Department of Clinical Pharmacology, University of Umea, Umea, Sweden
    Eur J Clin Pharmacol 65:615-25. 2009
  2. ncbi Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart
    Chen Leng Cai
    Institute of Molecular Medicine, Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA
    Dev Cell 5:877-89. 2003
  3. 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
  4. ncbi GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
    Vidu Garg
    Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, 6000 Harry Hines Boulevard, Rm NA8 124, Dallas, Texas 75390 9148, USA
    Nature 424:443-7. 2003
  5. ncbi The incidence of congenital heart disease
    Julien I E Hoffman
    Department of Pediatrics and the Cardiovascular Research Institute, University of California, San Francisco, California 94143, USA
    J Am Coll Cardiol 39:1890-900. 2002
  6. ncbi A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease
    B G Bruneau
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Cell 106:709-21. 2001
  7. ncbi Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics
    Kathy J Jenkins
    Boston Children s Hospital, USA
    Circulation 115:2995-3014. 2007
  8. pmc Loss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defects
    Zhan Peng Huang
    Department of Cell and Developmental Biology, McAllister Heart Institute, School of Medicine, University of North Carolina, Chapel Hill, USA
    Arterioscler Thromb Vasc Biol 30:2575-86. 2010
  9. ncbi The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis
    I M van Beynum
    Children s Heart Centre, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    QJM 100:743-53. 2007
  10. ncbi Homocysteine concentrations and molecular analysis in patients with congenital heart defects
    Luciano C Galdieri
    Department of Pediatrics, Universidade Federal de Sao Paulo UNIFESP EPM, Sao Paulo, Brazil
    Arch Med Res 38:212-8. 2007

Detail Information

Publications330 found, 100 shown here

  1. ncbi Maternal use of antihypertensive drugs in early pregnancy and delivery outcome, notably the presence of congenital heart defects in the infants
    Roland Lennestål
    Department of Clinical Pharmacology, University of Umea, Umea, Sweden
    Eur J Clin Pharmacol 65:615-25. 2009
    ..To investigate the association between maternal use of antihypertensives in early pregnancy and delivery outcome, notably infant congenital malformations...
  2. ncbi Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart
    Chen Leng Cai
    Institute of Molecular Medicine, Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA
    Dev Cell 5:877-89. 2003
    ..Our results have implications for the development of specific cardiac lineages, left-right asymmetry, cardiac evolution, and isolation of cardiac progenitor cells...
  3. 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
    ....
  4. ncbi GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
    Vidu Garg
    Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, 6000 Harry Hines Boulevard, Rm NA8 124, Dallas, Texas 75390 9148, USA
    Nature 424:443-7. 2003
    b>Congenital heart defects (CHDs) are the most common developmental anomaly and are the leading non-infectious cause of mortality in newborns...
  5. ncbi The incidence of congenital heart disease
    Julien I E Hoffman
    Department of Pediatrics and the Cardiovascular Research Institute, University of California, San Francisco, California 94143, USA
    J Am Coll Cardiol 39:1890-900. 2002
    ..Given the causes of variation, there is no evidence for differences in incidence in different countries or times...
  6. ncbi A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease
    B G Bruneau
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Cell 106:709-21. 2001
    ....
  7. ncbi Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics
    Kathy J Jenkins
    Boston Children s Hospital, USA
    Circulation 115:2995-3014. 2007
    ..Issues related to pregnancy monitoring are discussed. Knowledge gaps and future sources of new information on risk factors are described...
  8. pmc Loss of microRNAs in neural crest leads to cardiovascular syndromes resembling human congenital heart defects
    Zhan Peng Huang
    Department of Cell and Developmental Biology, McAllister Heart Institute, School of Medicine, University of North Carolina, Chapel Hill, USA
    Arterioscler Thromb Vasc Biol 30:2575-86. 2010
    b>Congenital heart defects represent the most common human birth defects. Even though the genetic cause of these syndromes has been linked to candidate genes, the underlying molecular mechanisms are still largely unknown...
  9. ncbi The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis
    I M van Beynum
    Children s Heart Centre, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    QJM 100:743-53. 2007
    Periconceptional folic acid supplementation may protect against congenital heart defects (CHDs)...
  10. ncbi Homocysteine concentrations and molecular analysis in patients with congenital heart defects
    Luciano C Galdieri
    Department of Pediatrics, Universidade Federal de Sao Paulo UNIFESP EPM, Sao Paulo, Brazil
    Arch Med Res 38:212-8. 2007
    b>Congenital heart defects are the result of incomplete heart development and, like many diseases, have been associated with high homocysteine concentration.
  11. pmc Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005
    Mark D Reller
    Oregon Health and Science University, Portland, OR, USA
    J Pediatr 153:807-13. 2008
    To determine an accurate estimate of the prevalence of congenital heart defects (CHD) using current standard diagnostic modalities.
  12. ncbi Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation
    Ingrid M van Beynum
    Children s Heart Centre, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Eur Heart J 27:981-7. 2006
    Periconceptional folate supplementation prevents neural tube defects and possibly congenital heart defects (CHD) as well...
  13. ncbi Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
    Lorenzo D Botto
    Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Birth Defects Res A Clin Mol Teratol 79:714-27. 2007
    Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms...
  14. ncbi MTRR 66A>G polymorphism in relation to congenital heart defects
    Ingrid M van Beynum
    Children s Heart Centre, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Chem Lab Med 44:1317-23. 2006
    Evidence is accumulating that periconceptional folic acid supplementation may prevent congenital heart defects (CHD)...
  15. ncbi Association between prepregnancy body mass index and congenital heart defects
    Suzanne M Gilboa
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA
    Am J Obstet Gynecol 202:51.e1-51.e10. 2010
    The purpose of this study was to examine associations between prepregnancy body mass index (BMI) and congenital heart defects (CHDs).
  16. ncbi Recurrence of congenital heart defects in families
    Nina Øyen
    Department of Epidemiology Research, Statens Serum Institut, Copenhagen S, Denmark
    Circulation 120:295-301. 2009
    ..We estimated an individual's risk of CHD given a family history of CHD, as well as the contribution of CHD family history to the total number of CHD cases in the population...
  17. ncbi The risk for congenital heart defects in offspring of individuals with congenital heart defects
    O Romano-Zelekha
    The Israel Center for Disease Control, Sheba Medical Center, Tel Hashomer, Israel
    Clin Genet 59:325-9. 2001
    b>Congenital heart defects (CHDs) occur in approximately 1% of all live births...
  18. pmc Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects
    Jikui Wang
    Developmental Biology Program, The Saban Research Institute of Childrens Hospital Los Angeles, Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90027, USA
    BMC Dev Biol 6:51. 2006
    ..While TGF-beta-superfamily signaling has been strongly implicated in neural crest cell development, the detailed molecular signaling mechanisms in vivo are still poorly understood...
  19. pmc Maternal folate-related gene environment interactions and congenital heart defects
    Charlotte A Hobbs
    Department of Pediatrics, Birth Defects Research Section, Arkansas Children s Hospital Research Institute, University of Arkansas for Medical Sciences, College of Medicine, Little Rock, Arkansas, USA
    Obstet Gynecol 116:316-22. 2010
    ..To investigate whether women with congenital heart defect (CHD)-affected pregnancies were more likely to have functional single-nucleotide polymorphisms in genes encoding enzymes in folate-dependent pathways...
  20. ncbi Should the ascending aorta be replaced more frequently in patients with bicuspid aortic valve disease?
    Michael A Borger
    Division of Cardiovascular Surgery, Toronto General Hospital, University Health Network, University of Toronto, 200 Elizabeth Street, Toronto, Ontario, Canada M5G 2C4
    J Thorac Cardiovasc Surg 128:677-83. 2004
    ..The optimal diameter at which replacement of the ascending aorta should be performed in patients with bicuspid aortic valve disease is not known...
  21. ncbi An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
    Karina A Issekutz
    Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet A 133:309-17. 2005
    ....
  22. ncbi Identification and localization of TBX5 transcription factor during human cardiac morphogenesis
    C J Hatcher
    Cardiology Division, Department of Medicine and Department of Cell Biology, Weill Medical College of Cornell University, New York, New York 10021, USA
    Dev Dyn 219:90-5. 2000
    ..Human cardiac expression of TBX5 protein correlates with the cardiac manifestations of Holt-Oram syndrome. TBX5 transmyocardial protein gradients may contribute to normal patterning of the human heart during embryogenesis...
  23. ncbi Developing models of DiGeorge syndrome
    J A Epstein
    BRB II, Room 954, Cardiovascular Division, Dept of Medicine, University of Pennsylvania Health System, 421 Curie Boulevard, Philadelphia, PA 19104, USA
    Trends Genet 17:S13-7. 2001
    ..Here, the genetic pathways regulating cardiac neural crest development are reviewed and the evidence implicating TBX1 and other genes on chromosome 22q11 in the pathogenesis of DiGeorge syndrome is summarized...
  24. ncbi Left-right asymmetry and congenital cardiac defects: getting to the heart of the matter in vertebrate left-right axis determination
    Ann F Ramsdell
    Department of Cell and Developmental Biology and Anatomy, School of Medicine and Program in Women s Studies, College of Arts and Sciences, University of South Carolina, Columbia, SC 29208, USA
    Dev Biol 288:1-20. 2005
    ..is presently known about cardiac development and upstream processes of left-right axis determination, and to consider how perturbation of the left-right body plan might ultimately result in particular types of congenital heart defects.
  25. ncbi Cell autonomous requirement for PDGFRalpha in populations of cranial and cardiac neural crest cells
    Michelle D Tallquist
    Program in Developmental Biology and Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, WA 98109, USA
    Development 130:507-18. 2003
    ..Our results demonstrate that the PDGFRalpha plays an essential, cell-autonomous role in the development of cardiac and cephalic NCCs and provides a model for the study of aberrant NCC development...
  26. ncbi Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects
    Simona Storti
    Molecular Cardiology Laboratory, IFC CNR G Pasquinucci Hospital, Massa, Italy
    Clin Chem Lab Med 41:276-80. 2003
    ..However, none of the odds ratios was statistically significant. We observed a higher frequency of the 677T allele in Italy than in other European countries. No association has been demonstrated between the 677TT MTHFR genotype and CD...
  27. pmc Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy
    Edwin P Kirk
    Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, 2010, Australia
    Am J Hum Genet 81:280-91. 2007
    ..They provide insights into how mutation of different genes in an interactive regulatory circuit lead to diverse clinical phenotypes, with implications for diagnosis, genetic screening, and patient follow-up...
  28. pmc SEMA3E mutation in a patient with CHARGE syndrome
    S R Lalani
    J Med Genet 41:e94. 2004
  29. ncbi Situs anomalies and gastrointestinal abnormalities
    Seung Eun Lee
    Department of Surgery, Seoul National University College of Medicine, Seoul 110 744, South Korea
    J Pediatr Surg 41:1237-42. 2006
    ..The aim of the study was to review the gastrointestinal abnormalities occurring in association with situs anomalies...
  30. ncbi Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway
    Simon D Bamforth
    Department of Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK
    Nat Genet 36:1189-96. 2004
    ..We propose that an abnormal Nodal-Pitx2c pathway represents a unifying mechanism for the cardiovascular malformations observed in Cited2(-/-) mice, and that such malformations may be the sole manifestation of a laterality defect...
  31. ncbi Tissue microarray detection of matrix metalloproteinases, in diseased tricuspid and bicuspid aortic valves with or without pathology of the ascending aorta
    George J Koullias
    Section of Cardiothoracic Surgery, Yale New Haven Hospital, New Haven, CT, USA
    Eur J Cardiothorac Surg 26:1098-103. 2004
    ..The purpose of this study was to detect the presence of these enzymes in aortic valvular tissue in healthy and diseased aortic valves with or without the presence of synchronous ascending aortic pathology...
  32. ncbi Palivizumab prophylaxis reduces hospitalization due to respiratory syncytial virus in young children with hemodynamically significant congenital heart disease
    Timothy F Feltes
    Ohio State University and The Children s Hospital, 700 Children s Drive, ED622, Columbus, OH 43205, USA
    J Pediatr 143:532-40. 2003
    ..To evaluate the safety, tolerance, and efficacy of palivizumab in children with hemodynamically significant congenital heart disease (CHD)...
  33. 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
    Although there have been important advances in diagnostic modalities and therapeutic strategies for congenital heart defects (CHD), these malformations still lead to significant morbidity and mortality in the human population...
  34. 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...
  35. pmc Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 78:303-14. 2006
    ..We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation...
  36. ncbi Maternal smoking and congenital heart defects
    Sadia Malik
    Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, 1120 Marshall St, Little Rock, AR 72202, USA
    Pediatrics 121:e810-6. 2008
    In a population-based case-control study, we investigated the association between congenital heart defects and maternal smoking.
  37. pmc CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
    M C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
    J Med Genet 43:306-14. 2006
    ..Specific behavioural problems, including autistic-like behaviour, have been described. The CHD7 gene on chromosome 8q12.1 was recently discovered as a major gene involved in the aetiology of this syndrome...
  38. ncbi Folic acid antagonists during pregnancy and the risk of birth defects
    S Hernandez-Diaz
    Slone Epidemiology Unit, Boston University School of Public Health, Brookline, Mass 02446, USA
    N Engl J Med 343:1608-14. 2000
    ..We evaluated whether the folic acid component of multivitamins is responsible for the reduction in risk by examining the associations between maternal use of folic acid antagonists and these congenital malformations...
  39. pmc Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)
    Stella Marie Reamon-Buettner
    Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, Nikolai Fuchs Strasse 1, D 30625 Hannover, Germany
    BMC Med Genet 8:38. 2007
    ..Previously, we identified 19 somatically-derived zinc finger mutations in diseased tissues of malformed hearts. We now continued our search in the 609 bp 3'-UTR region of GATA4 to explore further molecular avenues leading to CHD...
  40. ncbi Tissue engineering of viable pulmonary arteries for surgical correction of congenital heart defects
    Rainer G Leyh
    Division of Thoracic and Cardiovascular Surgery, Hanover Medical School, Hanover, Germany
    Ann Thorac Surg 81:1466-70; discussion 1470-1. 2006
    ..In this study, we evaluated an acellularized allogeneic matrix scaffold for pulmonary artery tissue engineering with and without in-vitro reseeding with autologous endothelial cells in the pulmonary circulation in a growing sheep model...
  41. ncbi Common 894G>T single nucleotide polymorphism in the gene coding for endothelial nitric oxide synthase (eNOS) and risk of congenital heart defects
    Ingrid M van Beynum
    Children s Heart Center, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Chem Lab Med 46:1369-75. 2008
    ..eNOS-deficient mice have impaired cardiac development resulting in congenital heart defects (CHDs)...
  42. ncbi Neural crest and cardiovascular development: a 20-year perspective
    Mary Redmond Hutson
    Neonatal Perinatal Research Institute, Division of Neonatology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    Birth Defects Res C Embryo Today 69:2-13. 2003
    ..Ablation of this region in chick resulted in persistent truncus arteriosus, mispatterning of the great vessels, outflow malalignments, and hypoplasia or aplasia of the pharyngeal glands...
  43. ncbi Role of TBX1 in human del22q11.2 syndrome
    Hisato Yagi
    Division of Genomic Medicine, Institute of Advanced Biomedical Engineering and Science, Graduate School of Medicine, Tokyo Women s Medical University, Tokyo, Japan
    Lancet 362:1366-73. 2003
    ..At least 30 genes have been mapped to the deleted region. However, the association of these genes with the cause of this syndrome is not clearly understood...
  44. ncbi Elevated glucose induces congenital heart defects by altering the expression of tbx5, tbx20, and has2 in developing zebrafish embryos
    Jintao Liang
    Children s Hospital, Fudan University, Shanghai, PR China
    Birth Defects Res A Clin Mol Teratol 88:480-6. 2010
    Maternal diabetes increases the risk of congenital heart defects in infants, and hyperglycemia acts as a major teratogen...
  45. pmc GATA4 sequence variants in patients with congenital heart disease
    A Tomita-Mitchell
    Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    J Med Genet 44:779-83. 2007
    ..Given that patients with septal and conotruncal defect can share a common genetic basis, it is unclear whether patients with additional types of CHD might also have GATA4 mutations...
  46. pmc Maternal obesity and congenital heart defects: a population-based study
    James L Mills
    Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda MD 20892, USA
    Am J Clin Nutr 91:1543-9. 2010
    Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased.
  47. ncbi The results of fetal echocardiography in a tertiary center and comparison of low- and high-risk pregnancies for fetal congenital heart defects
    Suheyla Ozkutlu
    Department of Pediatric Cardiology, School of Medicine, Hacettepe University, Ankara, Turkey
    Anadolu Kardiyol Derg 10:263-9. 2010
    ..Our aim is to examine retrospectively the reasons for referral of pregnants, the results of FE, distribution of pregnants having fetuses with IUHD according to low- and high- risk factors and to evaluate reliability of FE...
  48. ncbi Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage
    Lynn B Bailey
    Food Science and Human Nutrition Department, University of Florida, Gainesville, FL 32611, USA
    Am J Clin Nutr 81:1213S-1217S. 2005
    ..between maternal use of multivitamins containing folic acid and a reduction in the occurrence of congenital heart defects and orofacial clefts...
  49. ncbi Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
    Q Y Li
    Department of Genetics, University of Nottingham, Queen s Medical Centre, UK
    Nat Genet 15:21-9. 1997
    ..Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBX5 in heart and limb, consistent with a role in human embryonic development...
  50. pmc Morphogenesis of the right ventricle requires myocardial expression of Gata4
    Elisabeth M Zeisberg
    Cardiovascular Division, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 115:1522-31. 2005
    Mutations in developmental regulatory genes have been found to be responsible for some cases of congenital heart defects. One such regulatory gene is Gata4, a zinc finger transcription factor...
  51. ncbi Aortopulmonary collaterals after bidirectional cavopulmonary connection or Fontan completion: quantification with MRI
    Lars Grosse-Wortmann
    The Labatt Family Heart Center and the Department of Diagnostic Imaging, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada
    Circ Cardiovasc Imaging 2:219-25. 2009
    ..We aimed to quantify APC flow after bidirectional cavopulmonary connections and Fontan completions, using phase-contrast MRI, and to identify risk factors for the development of APCs...
  52. pmc Temporal variability in birth prevalence of cardiovascular malformations
    C Wren
    Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne NE7 7DN, UK
    Heart 83:414-9. 2000
    ..To investigate changes over time in the prevalence at live birth of cardiovascular malformations and to compare "anatomical" and "physiological" diagnostic hierarchies within a population...
  53. ncbi Notch signaling in cardiac development and disease
    Jose Luis de la Pompa
    Laboratorio de Biología Celular y del Desarrollo, Departamento de Inmunologia y Oncologia, Centro Nacional de Biotecnologia, Consejo Superior de Investigaciones Cientificas, Darwin 3, Campus de Cantoblanco, 28049 Madrid, Spain
    Pediatr Cardiol 30:643-50. 2009
    ..Future research will be informative about the involvement of altered NOTCH signaling in chamber abnormalities and other cardiac disorders...
  54. ncbi Clinical and pathophysiological implications of a bicuspid aortic valve
    Paul W M Fedak
    Division of Cardiac Surgery, University of Toronto, Toronto General Hospital, Toronto, Ontario, Canada
    Circulation 106:900-4. 2002
  55. ncbi Prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil
    Luciana T Vilas Boas
    Universidade Católica de Pelotas UCPel, Pelotas, RS, Brazil
    J Pediatr (Rio J) 85:403-7. 2009
    To determine the prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil, describing the most frequent types and assessing the associated factors.
  56. ncbi Effectiveness of prenatal diagnosis of congenital heart defects in South Australia: a population analysis 1999-2003
    Nee Scze Khoo
    Department of Cardiology, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Aust N Z J Obstet Gynaecol 48:559-63. 2008
    ..To report on the efficiency of fetal echocardiography, outcome after prenatal diagnosis of congenital heart disease (CHD) and the effectiveness of South Australia's obstetric screening program in detecting CHD...
  57. ncbi Does the severity of congenital heart defects affect disease-specific health-related quality of life in children in Bosnia and Herzegovina?
    Elnur Tahirović
    Heart Center Sarajevo, Clinical Center, University of Sarajevo, Sarajevo, Bosnia and Herzegovina
    Eur J Pediatr 169:349-53. 2010
    The aim of this study was to assess whether the severity of congenital heart defects (CHD) affects disease-specific health-related quality of life (HRQOL) in children after open heart surgery...
  58. pmc Repulsion by Slit and Roundabout prevents Shotgun/E-cadherin-mediated cell adhesion during Drosophila heart tube lumen formation
    EDGARDO SANTIAGO-MARTINEZ
    Department of Pathology and Laboratory Medicine, Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, Piscataway, NJ 08854, USA
    J Cell Biol 182:241-8. 2008
    ..Our data show that Slit and Robo pathways function in lumen formation as a repulsive signal to antagonize E-Cad-mediated cell adhesion...
  59. pmc Brain maturation is delayed in infants with complex congenital heart defects
    Daniel J Licht
    Divison of Neurology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    J Thorac Cardiovasc Surg 137:529-36; discussion 536-7. 2009
    ..form of periventricular leukomalacia have been observed in populations of infants with severe forms of congenital heart defects. This study tests the hypothesis that congenital heart defects delay in utero structural brain development...
  60. ncbi Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis
    Anna Verkleij-Hagoort
    Department of Obstetrics and Gynecology Division of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    Am J Med Genet A 143:952-60. 2007
    ..reductase (MTHFR) polymorphisms and cleft lip with or without cleft palate (CLP), and congenital heart defects (CHDs). However, findings have been inconsistent...
  61. ncbi The developmental genetics of congenital heart disease
    Benoit G Bruneau
    Gladstone Institute of Cardiovascular Disease, and Department of Pediatrics, University of California San Francisco, 1650 Owens Street, San Francisco, California 94158, USA
    Nature 451:943-8. 2008
    ..Recent studies have uncovered the genetic basis for some common forms of the disease and provide new insight into how the heart develops and how dysregulation of heart development leads to disease...
  62. pmc Improving the effectiveness of routine prenatal screening for major congenital heart defects
    J S Carvalho
    Fetal Medicine Unit, St George s Hospital Medical School, London, UK
    Heart 88:387-91. 2002
    ..the effectiveness of adding outlet views to the four chamber view in routine prenatal ultrasound screening for major congenital heart defects (CHD) as performed by trained sonographers, and to compare the procedure with current practice.
  63. ncbi Proximity of residence to trichloroethylene-emitting sites and increased risk of offspring congenital heart defects among older women
    Jennifer S Yauck
    Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
    Birth Defects Res A Clin Mol Teratol 70:808-14. 2004
    ..We tested the hypothesis that the odds of maternal residence close to TCE-emitting sites would be greater among infants with congenital heart defects (CHDs) than among infants without CHDs.
  64. ncbi Is the Ability index superior to the NYHA classification for assessing heart failure?: comparison of two classification scales in adolescents and adults with operated congenital heart defects
    Kambiz Norozi
    Department of Paediatric Cardiology and Intensive Care Medicine, Medical School Hannover, OE 6730, Carl Neuberg Str 1, 30623, Hannover, Germany
    Clin Res Cardiol 96:542-7. 2007
    ..The functional status of ACHD may be assessed in terms of the NYHA classification or the Ability index (ABILITY)...
  65. pmc Aortopathy is prevalent in relatives of bicuspid aortic valve patients
    Simon Biner
    Heart Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    J Am Coll Cardiol 53:2288-95. 2009
    ..This study aimed to determine the prevalence of dilation and abnormal elastic properties of aortic root in first-degree relatives (FDRs) of bicuspid aortic valve (BAV) patients...
  66. ncbi Association between congenital heart defects and small for gestational age
    Sadia Malik
    Arkansas Center for Birth Defects Research and Prevention, Little Rock, AR, USA
    Pediatrics 119:e976-82. 2007
    Infants with congenital heart defects may experience inhibited growth during fetal life...
  67. ncbi Combined loss of Hey1 and HeyL causes congenital heart defects because of impaired epithelial to mesenchymal transition
    Andreas Fischer
    Department of Physiological Chemistry I, Biocenter, University of Wurzburg, Wurzburg, Germany
    Circ Res 100:856-63. 2007
    b>Congenital heart defects affect almost 1% of human newborns. Recently, mutations in Notch ligands and receptors have been found to cause a variety of heart defects in rodents and humans...
  68. ncbi CXC-chemokine stimulation of neutrophils correlates with plasma levels of myeloperoxidase and lactoferrin and contributes to clinical outcome after pediatric cardiac surgery
    Peter Gessler
    University Children s Hospital, Zurich, Switzerland
    Shock 22:513-20. 2004
    ..Activation of neutrophils and down-regulation of CXCR1 and CXCR2 were predominantly caused by IL-8. This activation implies release of components of neutrophilic granules and correlates with the need for inotropic support...
  69. ncbi Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome
    David A Elliott
    Victor Chang Cardiac Research Institute, 384 Victoria Street, Darlinghurst 2010, Sydney, Australia
    J Am Coll Cardiol 41:2072-6. 2003
    ..We sought to examine the importance of mutations in the cardiac transcription factor gene NKX2-5 in patients with an atrial septal defect (ASD), patent foramen ovale (PFO), or hypoplastic left heart syndrome (HLHS)...
  70. ncbi Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12
    W Shou
    Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 391:489-92. 1998
    ..Physiological studies demonstrate that FKBP12 is dispensable for TGF-beta-mediated signalling, but modulates the calcium release activity of both skeletal and cardiac ryanodine receptors...
  71. ncbi Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse
    Radwan Abu-Issa
    Department of Pediatrics, Neonatal Perinatal Research Institute, Duke University Medical Center, Durham, NC 27710, USA
    Development 129:4613-25. 2002
    ..This study defines the cardiovascular defects present in Fgf8 mutants and supports a role for Fgf8 in development of all the pharyngeal arches and in NCC survival...
  72. pmc Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
    Margaret J Wat
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 149:1661-77. 2009
    ..describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genomic hybridization...
  73. ncbi Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
    C T Basson
    Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Nat Genet 15:30-5. 1997
    ..We conclude that TBX5 is critical for limb and heart development and suggest that haploinsufficiency of TBX5 causes Holt-Oram syndrome...
  74. ncbi Building the mammalian heart from two sources of myocardial cells
    Margaret Buckingham
    Department of Developmental Biology, CNRS URA 2578, Pasteur Institute, 25 rue du Dr Roux, 75015 Paris, France
    Nat Rev Genet 6:826-35. 2005
    ..It also has an important influence on the interpretation of mutant phenotypes in the mouse, with consequences for the classification and prognosis of human congenital heart defects.
  75. ncbi Congenital Heart Surgery Nomenclature and Database Project: vascular rings, tracheal stenosis, pectus excavatum
    C L Backer
    Department of Surgery, Northwestern University Medical School, Children s Memorial Hospital, Chicago, Illinois 60614, USA
    Ann Thorac Surg 69:S308-18. 2000
    ..A minimum database set is also presented which will allow for data sharing and would lend itself to basic interpretation of trends. Outcome tables relating diagnoses, procedures, and various risk factors are presented...
  76. pmc BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium
    Rolf W Stottmann
    Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA
    Development 131:2205-18. 2004
    ..These results demonstrate that BMP2/4 signaling in mammalian neural crest derivatives is essential for outflow tract development and may regulate a crucial proliferation signal for the ventricular myocardium...
  77. ncbi Cardiac outflow tract defects in mice lacking ALK2 in neural crest cells
    Vesa Kaartinen
    Developmental Biology Program, The Saban Research Institute of Childrens Hospital Los Angeles, Departments of Pathology and Surgery, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
    Development 131:3481-90. 2004
    ..Thus, the type I BMP receptor ALK2 plays an essential cell-autonomous role in the development of the cardiac outflow tract and aortic arch derivatives...
  78. ncbi Impaired apoptosis of pulmonary endothelial cells is associated with intimal proliferation and irreversibility of pulmonary hypertension in congenital heart disease
    Marilyne Levy
    UPRES EA4068, UFR Biomédicale des Saints Pĕres et Faculté de Médecine Paris V, Paris, France
    J Am Coll Cardiol 49:803-10. 2007
    ..This study sought to assess the cellular and histologic basis of irreversible pulmonary hypertension (PHT) in the clinical setting of congenital heart disease (CHD)...
  79. 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)...
  80. ncbi GATA4 mutations in 486 Chinese patients with congenital heart disease
    Weimin Zhang
    Cardiac Center, Beijing Children s Hospital Affiliated to Capital Medical University, Xi Cheng District, Beijing, China
    Eur J Med Genet 51:527-35. 2008
    ..Our findings are useful in understanding the prevalence of GATA4 mutations and the correlation between the GATA4 genotype and the CHD phenotype in Chinese patients...
  81. ncbi Mesp1 expression is the earliest sign of cardiovascular development
    Y Saga
    Department of Pediatric Cardiology, The Heart Institute of Japan, Tokyo Women s Medical University, 8 1, Kawada cho, Shinjuku ku, 162 8666, Tokyo, Japan
    Trends Cardiovasc Med 10:345-52. 2000
    ..Mesp1 may play a key role in the early specification for cardiac precursor cells...
  82. pmc Optical measurement of cerebral hemodynamics and oxygen metabolism in neonates with congenital heart defects
    Turgut Durduran
    ICFO Institut de Ciencies Fotoniques, Av Canal Olimpic s n, Castelldefels 08860, Spain
    J Biomed Opt 15:037004. 2010
    ..7, p=0.01). The study demonstrates use of NIRS-DCS on a critically ill neonatal population, and the results indicate that the optical technology is a promising clinical method for monitoring this population...
  83. ncbi Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5
    O Chisaka
    Howard Hughes Medical Institute, Department of Human Genetics, University of Utah School of Medicine, Salt Lake City 84112
    Nature 350:473-9. 1991
    ..In addition, they often feature defects of the heart and arteries as well as craniofacial abnormalities. These deficiencies are remarkably similar to the pathology of the human congenital disorder DiGeorge's syndrome...
  84. pmc Haploinsufficiency of TAB2 causes congenital heart defects in humans
    Bernard Thienpont
    Laboratory for the Genetics of Human Development, Department of Human Genetics, University of Leuven, B3000 Leuven, Belgium
    Am J Hum Genet 86:839-49. 2010
    b>Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25...
  85. ncbi GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease
    Wei min Zhang
    Cardiac Center, Beijing Children s Hospital Affiliated to Capital Medical University, Beijing100045, China
    Chin Med J (Engl) 122:416-9. 2009
    ..5 genes have been identified as responsible for CHD. The frequency of GATA4 and NKX2.5 mutations in Chinese Uygur patients with CHD and the correlation between their genotype and CHD phenotype are unknown...
  86. ncbi Screening of 99 Danish patients with congenital heart disease for GATA4 mutations
    Litu Zhang
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, DK 2200 Copenhagen, Denmark
    Genet Test 10:277-80. 2006
    ..Thus, the diagnostic importance of GATA4 mutations may be confined to familial cases or specific subgroups of CHD phenotypes...
  87. ncbi Delayed-enhancement cardiovascular magnetic resonance identifies fibrous tissue in children after surgery for congenital heart disease
    Matthew A Harris
    Department of Pediatrics, Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA 19103, USA
    J Thorac Cardiovasc Surg 133:676-81. 2007
    ..Additionally, to determine whether fibrous structures not directly related to the surgical reconstruction exhibited delayed enhancement...
  88. ncbi A decade of discoveries in cardiac biology
    Eric N Olson
    Department of Molecular Biology, University of Texas Southwestern Medical Center at Dallas, 6000 Harry Hines Blvd, Dallas, Texas 75390 9148, USA
    Nat Med 10:467-74. 2004
    ..These discoveries have provided new therapeutic approaches for prevention and palliation of cardiac disease and have raised new questions, challenges and opportunities for the future...
  89. ncbi Cardiac magnetic resonance versus routine cardiac catheterization before bidirectional glenn anastomosis in infants with functional single ventricle: a prospective randomized trial
    David W Brown
    Department of Cardiology, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
    Circulation 116:2718-25. 2007
    ..Because catheterization is invasive and exposes patients to ionizing radiation, cardiac magnetic resonance (CMR) may be a safe and effective alternative...
  90. pmc Proteomic-based detection of a protein cluster dysregulated during cardiovascular development identifies biomarkers of congenital heart defects
    Anjali K Nath
    Department of Molecular, Cellular and Developmental Biology, Yale University, New Haven, Connecticut, United States of America
    PLoS ONE 4:e4221. 2009
    ..Early gestation embryo loss or malformation has been linked to yolk sac vasculopathy and congenital heart defects (CHDs)...
  91. ncbi Cardiac arterial pole alignment is sensitive to FGF8 signaling in the pharynx
    Mary R Hutson
    Neonatal Perinatal Research Institute, Division of Neonatology, Department of Pediatrics, Box 3179, Duke University Medical Center, Durham, NC 27710, USA
    Dev Biol 295:486-97. 2006
    ..These results indicate that the secondary heart field myocardium is particularly sensitive to FGF8 signaling for normal conotruncal development, and further, that cardiac neural crest cells modulate FGF8 signaling in the caudal pharynx...
  92. ncbi Detection rate of early fetal echocardiography and in utero development of congenital heart defects
    Jan Michael Smrcek
    Division of Prenatal Medicine, Department of Obstetrics and Gynecology, University Hospital Schleswig Holstein, Campus Lubeck, Germany
    J Ultrasound Med 25:187-96. 2006
    The purpose of this study was to evaluate the detection rate of early fetal echocardiography and the in utero development of congenital heart defects (CHD).
  93. ncbi Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
    J Amiel
    , , Paris, France
    Am J Med Genet 99:124-7. 2001
    ....
  94. ncbi The complete three-vessel view in prenatal detection of congenital heart defects
    Theera Tongsong
    Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
    Prenat Diagn 30:23-9. 2010
    To evaluate the effectiveness of the complete three-vessel view (c3VV) in assessment of fetuses with prenatally diagnosed congenital heart defects (CHD).
  95. ncbi Aortic arch anomalies
    Paul M Weinberg
    The Cardiac Center, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    J Cardiovasc Magn Reson 8:633-43. 2006
    ..Examples of four major aortic arch types--left aortic arch, right aortic arch, double aortic arch and persistent fifth aortic--with most of their variations are demonstrated...
  96. ncbi [The incidence and diagnostics of congenital heart defects in Kaunas infant population during 1999-2005]
    Virginija Dulskiene
    Institute of Cardiology, Kaunas University of Medicine, Sukileliu 17, 50161 Kaunas, Lithuania
    Medicina (Kaunas) 44:139-46. 2008
    The objective of this study was to determinate the incidence and diagnostics of congenital heart defects in Kaunas infant population in 1999-2005 and to compare the data obtained with the data of years 1995-1998.
  97. pmc Variants of folate metabolism genes and the risk of conotruncal cardiac defects
    Elizabeth Goldmuntz
    Division of Cardiology, Department of Pediatrics, The Children s Hospital of Philadelphia, PA 19104 4318, USA
    Circ Cardiovasc Genet 1:126-32. 2008
    Although congenital heart defects (CHD) are the most common and serious group of birth defects, relatively little is known about the causes of these conditions and there are no established prevention strategies...
  98. ncbi Role of ultrasonography in early gestation in the diagnosis of congenital heart defects
    Reem S Abu-Rustum
    Center for Advanced Fetal Care, Najah Center, Tripoli, Lebanon
    J Ultrasound Med 29:817-21. 2010
    The purpose of this series was to determine the sensitivity of ultrasonography in early gestation (UEG) using nuchal translucency (NT) and the 4-chamber view (4CV) in the early diagnosis of congenital heart defects (CHDs).
  99. ncbi Normality of cardiopulmonary capacity in children operated on to correct congenital heart defects
    Kambiz Norozi
    Department of Pediatric Cardiology and Intensive Care, Georg August University, Gottingen, Germany
    Arch Pediatr Adolesc Med 159:1063-8. 2005
    One of the main goals of corrective surgery of congenital heart defects in children is the improvement of quality of life, which in young children is predominantly determined by exercise capacity...
  100. ncbi Use of ATP-MgCl2 in the evaluation and treatment of children with pulmonary hypertension secondary to congenital heart defects
    M M Brook
    Department of Pediatrics, University of California San Francisco 94143 0214
    Circulation 90:1287-93. 1994
    Pulmonary hypertension results in increased morbidity and mortality in children after surgical repair of congenital heart defects. Various vasodilators have been unsuccessful in providing preferential pulmonary vasodilation in these ..
  101. ncbi Major congenital malformations after first-trimester exposure to ACE inhibitors
    William O Cooper
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    N Engl J Med 354:2443-51. 2006
    ..We conducted a study to assess the association between exposure to ACE inhibitors during the first trimester of pregnancy only and the risk of congenital malformations...

Research Grants70

  1. Role of murine induced pluripotent stem cells on the correction of cardiac and sk
    Diego Fraidenraich; Fiscal Year: 2010
    ..cell types (pluripotency), embryonic stem (ES) cells also secrete corrective factors that prevent lethal congenital heart defects from occurring...
  2. Graves'Disease Therapy Risks to Mother and Fetus
    Scott A Rivkees; Fiscal Year: 2013
    ..for Birth Defects Surveillance and Research (ICBDSR) data, we observed birth defects with PTU (congenital heart defects) and MMI (choanal atresia, omphalocelle) use during pregnancy...
  3. Control of Cardiogenesis by microRNA Editing
    Kazuko Nishikura; Fiscal Year: 2010
    ..obtained through this research proposal is essential for the future development of a new miRNA-based intervention for prevention of congenital heart defects and pathological cardiac conditions such as cardiac hypertrophy and arrhythmias.
  4. Targets of a cytidine deaminase required for left-right axis in Xenopus
    Alin Vonica; Fiscal Year: 2010
    ..In addition, APOBEC2 stimulates the differentiation of a multipotent cell line into muscle fibers. Many congenital heart defects are caused by defects in left-right orientation in humans, and degenerative muscle diseases are an ..
  5. Transgenerational Inheritance of Epigenetic Effects of Polychlorinated Biphenyls
    Charles V Vorhees; Fiscal Year: 2013
    ..pregnancy to PCBs and other halogenated hydrocarbons has been associated with a higher incidence of congenital heart defects in the progeny and cardiac insufficiency later in life, linking fetal and adult cardiovascular disease...
  6. Integrated imaging of the form and function of the beating embryonic heart
    ANDREW MARTIN ROLLINS; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Congenital heart defects (CHDs) afflict 36,000 babies born in the US each year and survivors often require several surgical interventions in their shortened lifetime...
  7. The S1P1 receptor regulates sarcomere assembly and cardiac development
    Roland S Wu; Fiscal Year: 2013
    ..Defects in cardiac development lead to a wide variety of pathology, including congenital heart defects, cardiomyopathies, and valvular diseases...
  8. Perinatal regulation of endothelial NOS
    Stephen M Black; Fiscal Year: 2010
    ..in pulmonary blood flow (PBF) in the perinatal period are an integral part of surgical repair of many congenital heart defects (CHD)...
  9. Treatment of a Complex Retinal Degenerative Syndrome
    Val C Sheffield; Fiscal Year: 2013
    ..BBS patients also have an increased incidence of hypertension, diabetes mellitus and congenital heart defects. The retinal degeneration of BBS is early onset and typically leads to blindness in the second decade of ..
  10. Pediatric Heart Network North Carolina Consortium
    Jennifer S Li; Fiscal Year: 2010
    ..Over 90% of the over 300 patients with congenital heart defects who undergo open heart surgery at our Centers are followed in our clinics annually...
  11. The role of the extracellular biophysical and biomechanical milieu in CHDs
    Lauren D Black; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Congenital heart defects (CHDs) are the leading cause of death in infants and young children and those suffering from congenital diaphragmatic hernia and associated CHDs (particularly with left heart ..
  12. Let-7 miRNA control of heart development
    Cathy J Hatcher; Fiscal Year: 2010
    ..The types of molecules being studied in this project are ideal candidate targets for such novel approaches to treat individuals with congenital heart defects.
  13. Massachusetts Center for Birth Defects Research and Prevention
    Allen A Mitchell; Fiscal Year: 2013
    ..disruption pathogenesis is poorly understood);3) Drugs for nausea and vomiting of pregnancy and risk of congenital heart defects (If drugs used as a remedy for such a common condition cause birth defects, an opportunity for sizable ..
  14. Regulation of cardiovascular transcription
    Brian L Black; Fiscal Year: 2013
    ..Among the most severe forms of congenital heart defects are those involved in outflow tract and interventricular septation, whereas valve anomalies are the most ..
  15. Identification of a Stretch-Activated Channel with a Role in Cardiac Development
    Dipayan Chaudhuri; Fiscal Year: 2013
    ..becoming altered in diseases such as hypertension, heart failure, cardiac arrhythmias, and certain congenital heart defects. By identifying key molecules that sense blood pressure, we hope to gain new insight into how these ..
  16. Rapid and inexpensive screening of disease candidate genes in mice
    KATHLEEN JOYCE MILLEN; Fiscal Year: 2010
    ..birth defects of the cerebellum and cerebrum (Dandy-Walker malformation, microcephaly) and severe congenital heart defects (Holt-Oram Syndrome and Conotruncal malformations)...
  17. Regulation of Ciliated Cells that Control Cardiac Laterality
    Jeffrey D Amack; Fiscal Year: 2013
    ..Perturbation of cardiac LR asymmetry, or laterality, often leads to complex congenital heart defects. There is strong evidence that ciliated cells play a role in establishing cardiac laterality...
  18. THE GENETIC ARCHITECTURE OF CONGENITAL HEART DISEASE
    Patrick Y Jay; Fiscal Year: 2013
    ..the commonly reported human epidemiologic association of older maternal age with an increased risk of congenital heart defects independent of any chromosomal abnormality...
  19. Cardiac specific RNA Helicase is critical for normal cardiomyocyte proliferation
    RONALD LEE NEPPL; Fiscal Year: 2012
    ..5 are highly conserved across multiple generations of families with high incidences of congenital heart defects. In Nkx2...
  20. Perinatal Pulmonary Hypertension: Developmental Mediators
    Jeffrey R Fineman; Fiscal Year: 2013
    ..Pulmonary vascular disease is perhaps the most important complication for children with common congenital heart defects (CHD) that result in increased pulmonary blood flow (PBF) and pressure, such as large ventricular septal ..
  21. The Epigenetic Landscape of Heart Development
    Shinya Yamanaka; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Congenital heart defects (CHDs) are among the most common and most devastating birth defects in humans...
  22. Role of T-box Genes in Mouse Development
    Virginia E Papaioannou; Fiscal Year: 2013
    ..patterns of expression of T-box genes and the relevance of the organ systems to important human diseases: Congenital heart defects are a leading cause of death in humans during the first year of life...
  23. Nkx2-5 and congenital heart defects in Xenopus
    Daniel L Weeks; Fiscal Year: 2013
    ..Humans with mutations in even one of their copies of Nkx2-5 develop congenital heart defects. Among their problems are malformed septae that separate the chambers of the heart, heart valve defects ..
  24. Development of Population-Based Screening for DiGeorge Syndrome Type 1
    AOY MITCHELL; Fiscal Year: 2009
    ..A large range of clinical characteristics characterizes this autosomal dominant disease, including congenital heart defects, velopharyngeal abnormalities, learning difficulties, endocrine abnormalities, renal anomalies, and ..
  25. Complex Mechanisms in Bardet-Biedl Syndrome Retinopathy
    Val C Sheffield; Fiscal Year: 2013
    ..I is also associated with hypertension, diabetes mellitus and congenital heart defects. The retinal degeneration of BBS is early onset and typically leads to blindness in the second decade of ..
  26. Basic Mechanisms of Human Calcific Aortic Valve Disease
    Gordon S Huggins; Fiscal Year: 2013
    ..End of Abstract) ..
  27. Down Syndrome in Massachusetts: A population-based study of early childhood healt
    Eugene Declercq; Fiscal Year: 2011
    ..costs, among children with DS in MA from 2001-2005 overall and among four DS sub-groups: DS only, DS + congenital heart defects (CHD), DS + CHD + other major non-cardiac birth defects (OMBD), and DS+OMBD...
  28. The role of Lmp4 in the regulation of the cardiac transcription factor Tbx5
    Hans Georg Simon; Fiscal Year: 2010
    b>Congenital heart defects are among the most prevalent and serious diseases affecting humans...
  29. Neurodevelopmental Outcomes in Infants with HLHS after Hybrid Stage I Palliation
    Sharon L Hill; Fiscal Year: 2011
    ..provided by applicant): Hypoplastic Left Heart Syndrome remains the leading cause of death of all congenital heart defects in the first year of life...
  30. Investigation of Protein Receptor Localization and Retrograde Transport in Cell-t
    JAMIE STAYNER LYMAN GINGERICH; Fiscal Year: 2010
    ..cilia contribute to a number of different human developmental defects and diseases including congenital heart defects, autosomal dominant polycystic kidney disease, and obesity...
  31. O-Glycosylation of Epidermal Growth Factor-like Motifs
    Robert S Haltiwanger; Fiscal Year: 2013
    ..g. T-cell acute lymphoblastic leukemia), and developmental disorders such as Alagille Syndrome and congenital heart defects. Glycosylation of the Notch extracellular domain (ECD) provides a critical mechanism for regulating Notch ..
  32. Acquisition and maintenance of DNA methylation in genomic imprinting
    Xiajun Li; Fiscal Year: 2013
    ..Indeed, it was just published that mutations in human Zfp57 result in hypomethylation at multiple imprinted regions and are associated with transient neonatal diabetes and congenital heart defects.
  33. Exome sequencing and functional studies in familial CHD
    Peter White; Fiscal Year: 2013
    ..This proposal concentrates on non-syndromic congenital heart defects (CHDs)...
  34. Functional analysis of methylation in neural crest migration
    KATIE L VERMILLION; Fiscal Year: 2012
    ..in neural crest development lead to a variety of birth defects, including craniofacial clefts and some congenital heart defects. Folate supplements reduce the incidence of these birth defects, but the mechanism of this effect is ..
  35. Maternal Smoking: DNA Repair Polymorphisms and the Risk of Septal Heart Defects
    Sadia Malik; Fiscal Year: 2012
    ..of the project are to investigate underlying genetic susceptibilities in the complex etiology of congenital heart defects (CHDs)...
  36. Tissue Hypoxia in Cardiac Morphogenesis
    Steven A Fisher; Fiscal Year: 2013
    ..epidemiological studies suggest that reduced oxygen delivery to the fetus and oxidative stress may cause congenital heart defects. If oxygen gradients play a role in specific morphogenic processes, as proposed here, then these ..
  37. Genomic/Epigenomic Factors and Non-Syndromic Congenital Heart Defect Risk
    Charlotte A Hobbs; Fiscal Year: 2013
    ..b>Congenital heart defects, including right- and left-sided obstructive heart defects (OHDs), are among the most serious and lethal ..
  38. Role of nebula/DSCR1 in mitochondria
    Karen T Chang; Fiscal Year: 2011
    ..DS patients have a number of clinical manifestations, including mental retardation, congenital heart defects;motor deficits, and early oriset Alzheimer's disease (AD)...
  39. Mechanisms of Nural Crest Cell Development
    Ching Pin Chang; Fiscal Year: 2010
    ..These studies will provide insights to the developmental mechanisms of congenital heart defects. Specifically, we will study (1) whether Pbx1 acts cell intrinsically within the neural crest cells to ..
  40. Intermountain Pediatric Heart Disease Research Center
    L Luann Minich; Fiscal Year: 2010
    ..by applicant): Increasing numbers of infants are undergoing complete repair rather than palliation of congenital heart defects that requires placement of a cryopreserved valved allograft in the pulmonary position...
  41. A novel approach for diagnosis and newborn screening for 22q11 deletion syndrome
    Lisa Kobrynski; Fiscal Year: 2009
    ..The high incidence of this disorder, along with the need for early intervention, makes 22q11.2 deletion syndrome a good candidate for newborn screening. ..
  42. Interactions between TGFbeta and retinoid signaling in cardiac development
    Loretta L Hoover; Fiscal Year: 2010
    b>Congenital heart defects affect 1/200 live births and many of these defects have poor surgical outcomes...
  43. iPSC-Derived Cardiomyocytes in Left Ventricular Non-Compaction Cardiomyopathy
    Daniel Bernstein; Fiscal Year: 2013
    ..Genetically altered murine models of "hypertrabeculation" all have other congenital heart defects and high embryonic lethality so that good model systems do not exist...
  44. REGULATION OF CARDIAC MORPHOGENESIS
    Anthony B Firulli; Fiscal Year: 2011
    b>Congenital heart defects (CHDs) affect almost 1% of all live human births and frequently require intervention in order to prevent death...
  45. Biomechanics of early mammalian cardiogenesis
    Irina Larina; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Congenital heart defects are among the most common birth defects and the leading cause of death in children born with congenital defects...
  46. Excitation-contraction coupling in human ventricle development
    Mary B Wagner; Fiscal Year: 2012
    ..As part of surgical repair of congenital heart defects, ventricular tissue may be removed...
  47. Drosophila models of human cognitive disorders: NF1 and Noonan syndrome
    Yi Zhong; Fiscal Year: 2012
    ..NS include features like distinct facial anomalies and congenital heart defects. A fraction of NS patients also have learning defects...
  48. Understanding mechanisms of Fontan failure and key predictors for patient outcome
    Ajit P Yoganathan; Fiscal Year: 2013
    ..Understanding these interconnections will provide the means to develop optimal medical strategies to improve those outcomes. ..
  49. TRANSCRIPTION FACTORS INVOLVED IN HEART DEVELOPMENT
    Anthony B Firulli; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Congenital heart defects (CHDs) affect almost 1% of all live human births and frequently require surgical intervention in order to prevent death...
  50. Development of Xenopus as a Model to Study Congenital Heart Disease
    Ann F Ramsdell; Fiscal Year: 2011
    ..embryos exhibit abnormal cardiac and visceral organ L-R asymmetries that are accompanied by complex, congenital heart defects (CHDs)...
  51. Functional Analysis of the Bifunctional Ion Channel and Kinase TRPM7
    Loren W Runnels; Fiscal Year: 2013
    ..occur at an average rate of 1 per 1000 births and are the second most prevalent malformation, after congenital heart defects, among human pregnancies...
  52. Towards repairing congenital heart defects: The effects of fetal cardiac extracel
    Corin Williams; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Congenital heart defects (CHD) are the leading cause of mortality in live-born infants (1, 2)...
  53. Regulation of Cardiac Development by Chromatin Modifying Enzymes
    CHINMAY MAHESHCHANDRA TRIVEDI; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Congenital heart defects are the most common type of birth defects in the United States...
  54. ADHD (Attention Deficit Hyperactivity Disorder) after Surgery for Congenital Hear
    Victoria L Vetter; Fiscal Year: 2010
    ..The institutional strengths and infrastructure support clinical investigations and enhance the likelihood that the aims and long term goals of the Pediatric Heart Network will be achieved. (End of Abstract). ..
  55. NIPBL, Cohesin and Related Structural Birth Defects
    Ian D Krantz; Fiscal Year: 2013
    ..g. congenital heart defects, cleft palate, diaphragmatic hernias, limb defects) seen in constellation in CdLS. The PI (Dr...
  56. SUMO Conjugation and Deep Hypothermia-Induced Organ Protection
    Wulf Paschen; Fiscal Year: 2012
    ..Circulatory arrest is required for various surgeries, including aortic surgery or correction of congenital heart defects in the neonates...
  57. MUCOPOLYSACCHARIDE METABOLISM IN CARDIAC ANOMALIES
    Roger R Markwald; Fiscal Year: 2013
    ..Thus, it is not surprising that many human congenital heart defects can arguably be linked to AV junction formation and remodeling...
  58. Genomic studies of secundum atrial septal defects
    Bruce D Gelb; Fiscal Year: 2013
    ..RELEVANCE (See instructions): Congenital heart defects are the commonest form of birth defects and, despite substantial progress in care, continue to result in ..
  59. Altered Lymphatics in an Ovine Cardiac Model of Increased Pulmonary Blood Flow
    Sanjeev A Datar; Fiscal Year: 2013
    ..will utilize an integrated approach to address mechanisms of lung fluid homeostasis associated with congenital heart defects and increased pulmonary blood flow (PBF). The mentor, Jeffrey R. Fineman, M.D...
  60. Development of Percutaneous DLC for Total Cavo-pulmonary Assistance
    Dongfang Wang; Fiscal Year: 2011
    ..by applicant): The Fontan procedure is currently standard care for patients with complex single ventricle congenital heart defects. The Fontan procedure involves the creation of a cavopulmonary (CP) shunt connecting the inferior and ..
  61. Tracking Human Cardiac Subtype Specification Using Molecular Beacons
    Chunhui Xu; Fiscal Year: 2013
    ..In addition, cell loss or dysfunctin in pacemaker tissues due to congenital heart defects, aging, and acquired diseases that damage the conduction system can cause severe arrhythmias...
  62. Mechanisms of Pulmonary Vein Development
    Steven B Bleyl; Fiscal Year: 2010
    ..Thus, I will receive the necessary training both to direct an active research program and provide state-of-the-art clinical care. (End of Abstract) ..
  63. Hedgehog signaling during cardiovascular patterning in the mouse
    JOHN A KLINGENSMITH; Fiscal Year: 2010
    ..Defects in outflow tract development result in severe congenital heart defects such as persistent truncus arteriosus and double outlet right ventricle...
  64. MODEL OF DYSRHYTHMIAS AFTER CONGENITAL HEART SURGERY
    Arthur Garson; Fiscal Year: 1991
    This study will continue animal research designed to model the problem of sudden death after repair of congenital heart defects such as tetralogy of Fallot (TOF)...
  65. REPRODUCTION AND SURVIVAL AFTER CARDIAC DEFECT REPAIR
    Cynthia Morris; Fiscal Year: 1991
    In the last 25 years, surgical advances have led to correction of congenital heart defects (CHD) in children who otherwise would not have lived to adulthood...
  66. CARDIOPULMONARY GEOMETRY AND BLOOD FLOW
    Carol Lucas; Fiscal Year: 1991
    ..geometry and fluid dynamics is essential if techniques for diagnosing altered fluid dynamics induced by congenital heart defects in infants and children, in whom pulmonary geometries will be changing rapidly, are to be improved...
  67. MOLECULAR BASIS FOR HYPOPLASTIC HEART SYNDROMES
    Eric Olson; Fiscal Year: 2003
    b>Congenital heart defects account for the largest number of birth defects in humans...
  68. Endovascular surgery system for atrial septal defect repair
    BRIAN FILL; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): Atrial septal defect (ASD) is one of the most common congenital heart defects found in pediatrics and adults...
  69. GENETIC STUDIES OF COMMON CONGENITAL HEART DEFECTS
    John Belmont; Fiscal Year: 2004
    The goal of this proposal is to carry out genetic studies of three classes of congenital heart defects (CHD): left ventricular outflow tract obstruction (LVOTO); Laterality defects, and cardiac neural crest migration defect...
  70. Molecular Pathogenesis of the Cardiomyogenic Defects in LEOPARD Syndrome
    MARIA IRENE KONTARIDIS; Fiscal Year: 2010
    ..NS and LS share several clinical features, including congenital heart defects, and, as such, were viewed as overlap syndromes...