J A Towbin

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. ncbi request reprint Molecular genetics of hypertrophic cardiomyopathy
    J A Towbin
    Baylor College of Medicine, Pediatric Cardiology, 1 Baylor Plaza, Room 333E, Houston, TX 77030, USA
    Curr Cardiol Rep 2:134-40. 2000
  2. pmc Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Pediatr 2:12. 2002
  3. pmc Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
    Giorgia Beffagna
    Department of Biology, University of Padua, Padua, Italy
    BMC Med Genet 8:65. 2007
  4. pmc SNP genotyping to screen for a common deletion in CHARGE syndrome
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    BMC Med Genet 6:8. 2005
  5. ncbi request reprint Genetic abnormalities responsible for dilated cardiomyopathy
    J A Towbin
    Baylor College of Medicine, Pediatric Cardiology, 1 Baylor Plaza, Room 333E, Houston, TX 77030, USA
    Curr Cardiol Rep 2:475-80. 2000
  6. ncbi request reprint Genotype and severity of long QT syndrome
    J A Towbin
    Department of Pediatrics Cardiology, Texas Children s Hospital and Baylor College of Medicine, Houston 77030, USA
    Drug Metab Dispos 29:574-9. 2001
  7. ncbi request reprint Genetics of brugada, long QT, and arrhythmogenic right ventricular dysplasia syndromes
    J A Towbin
    Department of Pediatrics Cardiology, Texas Children s Hospital and Baylor College of Medicine, Houston 77030, USA
    J Electrocardiol 33:11-22. 2000
  8. ncbi request reprint Molecular diagnosis of myocardial disease
    Jeffrey A Towbin
    Department of Pediatrics Cardiology, Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030, USA
    Expert Rev Mol Diagn 2:587-602. 2002
  9. ncbi request reprint Molecular determinants of left and right outflow tract obstruction
    J A Towbin
    Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet 97:297-303. 2000
  10. ncbi request reprint Molecular genetic basis of sudden cardiac death
    J A Towbin
    Department of Pediatrics Cardiology, Texas Children s Hospital and Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030, USA
    Cardiovasc Pathol 10:283-95. 2001

Research Grants

  1. Multidisciplinary Study of Right Ventricular Dysplasia
    Jeffrey Towbin; Fiscal Year: 2005
  2. Pediatric Cardiomyopathy Specimen Repository
    Jeffrey Towbin; Fiscal Year: 2007
  3. Pediatric Cardiomyopathy Specimen Repository
    Jeffrey Towbin; Fiscal Year: 2008

Detail Information

Publications127 found, 100 shown here

  1. ncbi request reprint Molecular genetics of hypertrophic cardiomyopathy
    J A Towbin
    Baylor College of Medicine, Pediatric Cardiology, 1 Baylor Plaza, Room 333E, Houston, TX 77030, USA
    Curr Cardiol Rep 2:134-40. 2000
    ..In this review the genetic basis of HCM is discussed...
  2. pmc Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Pediatr 2:12. 2002
    ..These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period...
  3. pmc Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
    Giorgia Beffagna
    Department of Biology, University of Padua, Padua, Italy
    BMC Med Genet 8:65. 2007
    ..We screened 54 ARVC probands for mutations in desmocollin-2 (DSC2), the only desmocollin isoform expressed in cardiac tissue...
  4. pmc SNP genotyping to screen for a common deletion in CHARGE syndrome
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    BMC Med Genet 6:8. 2005
    ..Recently, microdeletion at 8q12 locus was reported in two patients with CHARGE, although point mutation in CHD7 on chromosome 8 was the underlying etiology in most of the affected patients...
  5. ncbi request reprint Genetic abnormalities responsible for dilated cardiomyopathy
    J A Towbin
    Baylor College of Medicine, Pediatric Cardiology, 1 Baylor Plaza, Room 333E, Houston, TX 77030, USA
    Curr Cardiol Rep 2:475-80. 2000
    ..Once the entire group of genes causing DCM (genetic heterogeneity) are identified, improvements in diagnosis and treatment are expected...
  6. ncbi request reprint Genotype and severity of long QT syndrome
    J A Towbin
    Department of Pediatrics Cardiology, Texas Children s Hospital and Baylor College of Medicine, Houston 77030, USA
    Drug Metab Dispos 29:574-9. 2001
    ..The purpose of this review is to describe the current understanding of the molecular genetics of LQTS and the resultant phenotypes...
  7. ncbi request reprint Genetics of brugada, long QT, and arrhythmogenic right ventricular dysplasia syndromes
    J A Towbin
    Department of Pediatrics Cardiology, Texas Children s Hospital and Baylor College of Medicine, Houston 77030, USA
    J Electrocardiol 33:11-22. 2000
    ..A third disorder, arrhythmogenic right ventricular dysplasia, which is on the cusp of understanding, will also be described...
  8. ncbi request reprint Molecular diagnosis of myocardial disease
    Jeffrey A Towbin
    Department of Pediatrics Cardiology, Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030, USA
    Expert Rev Mol Diagn 2:587-602. 2002
    ..In this review, the genetics of the myocardial diseases will be described...
  9. ncbi request reprint Molecular determinants of left and right outflow tract obstruction
    J A Towbin
    Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet 97:297-303. 2000
    ..In some cases, the gene(s) has been identified or the genetic pathway has been defined. The purpose of this review is to discuss the molecular determinants of these obstructive disorders...
  10. ncbi request reprint Molecular genetic basis of sudden cardiac death
    J A Towbin
    Department of Pediatrics Cardiology, Texas Children s Hospital and Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030, USA
    Cardiovasc Pathol 10:283-95. 2001
    ..Finally, a disorder in which both myocardial abnormalities and rhythm abnormalities coexist, arrhythmogenic right ventricular dysplasia (ARVD) will also be described. The role of the pathologist in these studies will be highlighted...
  11. ncbi request reprint Arrhythmogenic inherited heart muscle diseases in children
    J A Towbin
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
    J Electrocardiol 34:151-65. 2001
    ..This review describes the molecular genetics of LV dysfunction and provide evidence for a "final common pathway" responsible for the phenotype...
  12. ncbi request reprint Cardiomyopathy and heart transplantation in children
    Jeffrey A Towbin
    Department of Pediatrics Cardiology, Baylor College of Medicine and Texas Children s Hospital, Houston 77030, USA
    Curr Opin Cardiol 17:274-9. 2002
    ..In this review, the current indications and outcomes of heart transplantation in patients with cardiomyopathy are discussed...
  13. ncbi request reprint Molecular genetics of left ventricular dysfunction
    J A Towbin
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Curr Mol Med 1:81-90. 2001
    ..In this review, we will describe the molecular genetics of LV dysfunction and provide evidence for a "final common pathway" responsible for the phenotype...
  14. ncbi request reprint Dilated cardiomyopathy: a tale of cytoskeletal proteins and beyond
    Jeffrey A Towbin
    Department of Pediatrics Cardiology, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
    J Cardiovasc Electrophysiol 17:919-26. 2006
  15. ncbi request reprint Molecular genetic basis of sudden cardiac death
    Jeffrey A Towbin
    Department of Pediatrics Cardiology, Texas Children s Hospital and Baylor College of Medicine, 6621 Fannin Street, FC 430 09, Houston, TX 77030, USA
    Pediatr Clin North Am 51:1229-55. 2004
    ..Finally, a disorder in which myocardial abnormalities and rhythm abnormalities coexist, arrhythmogenic right ventricular dysplasia, is described...
  16. ncbi request reprint The role of cytoskeletal proteins in cardiomyopathies
    J A Towbin
    Department of Pediatrics Cardiology, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas, USA
    Curr Opin Cell Biol 10:131-9. 1998
    ....
  17. ncbi request reprint Genetics of neonatal cardiomyopathy
    J A Towbin
    Department of Pediatrics Cardiology, Baylor College of Medicine, Texas Children s Hospital, Houston, USA
    Curr Opin Cardiol 14:250-62. 1999
    ..In this review, the major causes of neonatal cardiomyopathy are described...
  18. ncbi request reprint The failing heart
    J A Towbin
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 415:227-33. 2002
    ....
  19. ncbi request reprint Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes
    K R Bowles
    Department of Molecular and Human Genetics, Department of Pediatrics Cardiology, Department of Medicine, Department of Cardiovascular Sciences, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Genomics 67:109-27. 2000
    ..Mutational analysis of ANX11, DLG5, and PPIF revealed no disease-associated mutations. Multiple ESTs have also been mapped to the critical region...
  20. ncbi request reprint Genotype and severity of long QT syndrome
    J A Towbin
    Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston 77030, USA
    Arch Pathol Lab Med 125:116-21. 2001
    ..An understanding of the mechanisms responsible for long QT syndrome is expected to enable development of specific therapies...
  21. 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...
  22. ncbi request reprint Molecular biology and the prolonged QT syndromes
    J A Towbin
    Department of Pediatrics (Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med 110:385-98. 2001
    ..In this review, the genetic basis of the prolonged QT interval syndromes will be discussed, genotype-phenotype correlations identified, and the approaches to genetic testing and treatments will be outlined...
  23. ncbi request reprint Genetics, molecular mechanisms and management of long QT syndrome
    Q Wang
    Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston 77030, USA
    Ann Med 30:58-65. 1998
    ..An effective treatment for LQT patients with KVLQT1 or MinK mutations is expected to be developed based on the functional characterization of the I(Ks) potassium channel. Genetic testing is now available for some patients with LQT...
  24. ncbi request reprint Usefulness of routine surveillance biopsies in children more than one year after orthotopic heart transplantation
    N J Kertesz
    Lillie Frank Abercrombie Division of Pediatric Cardiology, Texas Children's Hospital, Baylor College of Medicine, Houston 77030, USA
    Am J Cardiol 87:667-8, A11. 2001
    ..This study found that routine biopsies detect few episodes of rejection in the first year after transplant and were less useful than nonroutine biopsies...
  25. ncbi request reprint New mutations in the KVLQT1 potassium channel that cause long-QT syndrome
    H Li
    Lillie Frank Abercrombie Section of Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, Tex 77030, USA
    Circulation 97:1264-9. 1998
    ..5 (LQT1), 7q35-36 (LQT2), 3p21-24 (LQT3), and 4q25-27 (LQT4). Genes responsible for LQT1, LQT2, and LQT3 have been identified as cardiac potassium channel genes (KVLQT1, HERG) and the cardiac sodium channel gene (SCN5A)...
  26. ncbi request reprint Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene
    K R Bowles
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Genet 105:354-9. 1999
    ..The DNA sequences have been determined for each exon-intron boundary, and putative promoter sequences and transcription initiation sites identified. No consensus polyadenylation signal was identified...
  27. ncbi request reprint Left ventricular noncompaction cardiomyopathy in association with trisomy 13
    C J McMahon
    Lillie Frank Abercrombie Section of Pediatric Cardiology, Texas Children s Hospital, Baylor College of Medicine, Houston, TX 77030, USA
    Pediatr Cardiol 26:477-9. 2005
    ..Although LVNC has been described in association with metabolic disorders such as Fabry's disease or genetic disorders such as Roifman's syndrome, this case represents the first report of LVNC in a child with trisomy 13...
  28. pmc Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23
    K R Bowles
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Clin Invest 98:1355-60. 1996
    ..We conclude that a new locus for pure autosomal dominant FDCM exists, and that this gene is localized to a 9 cM region of 10q21-10q23. The search for the disease causing gene and the responsible mutation(s) is ongoing...
  29. ncbi request reprint Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy
    R Ortiz-Lopez
    Department of Pediatrics, Baylor College of Medicine, Houston, Tex 77030, USA
    Circulation 95:2434-40. 1997
    ..The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin mutations...
  30. ncbi request reprint Over two decades of pediatric heart transplantation: how has survival changed?
    David L S Morales
    Michael E DeBakey Department of Surgery, Division of Congenital Heart Surgery, Baylor College of Medicine, Houston, Tex, USA
    J Thorac Cardiovasc Surg 133:632-9. 2007
    ..This study analyzes the 21-year experience with pediatric heart transplantation at Texas Children's Hospital to assess whether and how survival has changed over time...
  31. ncbi request reprint Genetics and cardiac arrhythmias
    Jeffrey A Towbin
    Department of Pediatrics, Texas Children s Hospital and Baylor College of Medicine, Houston, USA
    Adv Pediatr 49:87-129. 2002
    ..Two other disorders, arrhythmogenic right ventricular dysplasia and Wolff-Parkinson-White syndrome, which are on the cusp of understanding, are also described...
  32. ncbi request reprint Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy
    Ricardo H Pignatelli
    Lillie Frank Abercrombie Division of Pediatric Cardiology, Texas Children s Hospital, 6621 Fannin, Houston 77030, Tex, USA
    Circulation 108:2672-8. 2003
    ..The purpose of this study was to identify the clinical characteristics of children with LVNC...
  33. ncbi request reprint Detection of viruses in myocardial tissues by polymerase chain reaction. evidence of adenovirus as a common cause of myocarditis in children and adults
    Neil E Bowles
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Am Coll Cardiol 42:466-72. 2003
    ..The purpose of this study was to analyze cardiac tissue and blood for viral genomes using polymerase chain reaction (PCR) to define the common viral etiologies of myocarditis by age group...
  34. ncbi request reprint Long-term follow-up of arrhythmias in pediatric orthotopic heart transplant recipients: incidence and correlation with rejection
    N J Kertesz
    Lillie Frank Abercrombie Section of Pediatric Cardiology, Texas Children s Hospital, Baylor College of Medicine, Houston, Texas, USA
    J Heart Lung Transplant 22:889-93. 2003
    ..Because of the paucity of information in pediatric OHT recipients, the purpose of this study was to determine the incidence and correlation of arrhythmias with rejection or with coronary artery disease (CAD) in children...
  35. ncbi request reprint Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
    R Kosaki
    Department of Pathology, Baylor College of Medicine and Texas Children s Hospital, Houston 77030, USA
    Am J Med Genet 82:70-6. 1999
    ..Neither of these nucleotide changes has been found in 200 control chromosomes. We conclude that ACVR2B mutations are present only rarely among human LR axis malformation cases...
  36. ncbi request reprint Genomic characterization of the human peptidyl-prolyl-cis-trans-isomerase, mitochondrial precursor gene: assessment of its role in familial dilated cardiomyopathy
    K R Bowles
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Genet 105:582-6. 1999
    ..DNA analysis of the entire PPIF coding region (including the intron-exon boundaries) of two affected and one unaffected family member revealed no mutations, therefore excluding this gene as the cause of FDCM in this family...
  37. pmc alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption
    Geru Wu
    Electrophysiology Research Laboratory, Texas Heart Institute St Luke s Episcopal Hospital, Houston, Texas, USA
    Circ Arrhythm Electrophysiol 1:193-201. 2008
    ..5), and we hypothesized that SNTA1 mutations might cause phenotypic LQTS in patients with genotypically normal hNa(v)1.5 by secondarily disturbing sodium channel function...
  38. pmc Viral endomyocardial infection is an independent predictor and potentially treatable risk factor for graft loss and coronary vasculopathy in pediatric cardiac transplant recipients
    Mousumi Moulik
    Department of Pediatrics Cardiology, University of Texas Health Sciences Center, Houston, TX, USA
    J Am Coll Cardiol 56:582-92. 2010
    ..This study sought to evaluate the outcome and prevalence of viral endomyocardial infection after cardiac transplantation...
  39. ncbi request reprint Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome
    Zhiqing Wang
    Department of Medicine Cardiovascular Sciences, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 75:308-16. 2002
    ..Interestingly, mutations resulting in truncation of the protein appear to be benign, with heterozygous carriers being asymptomatic...
  40. ncbi request reprint A prospective evaluation of nesiritide in the treatment of pediatric heart failure
    J L Jefferies
    Division of Pediatric Cardiology, Texas Children s Hospital, 6621 Fannin, MC 19345 C, Houston, TX 77030, USA
    Pediatr Cardiol 27:402-7. 2006
    ..It is associated with decreased thirst and improved urine output and functional status, and it may be efficacious in the treatment of pediatric HF...
  41. ncbi request reprint Association of viral genome with graft loss in children after cardiac transplantation
    G S Shirali
    Department of Pediatrics, Medical University of South Carolina, Charleston, USA
    N Engl J Med 344:1498-503. 2001
    ..002). CONCLUSIONS: Identification of viral genome, particularly adenovirus, in the myocardium of pediatric transplant recipients is predictive of adverse clinical events, including coronary vasculopathy and graft loss...
  42. ncbi request reprint Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene
    W Guo
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Nat Genet 4:367-72. 1993
    ..Independent confirmation of the identity of this gene was obtained by functional complementation of GK deficient E. coli mutants with a construct containing the complete human X-linked GK coding sequence...
  43. ncbi request reprint Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    Q Chen
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 392:293-6. 1998
    ..Our results indicate that mutations in cardiac ion-channel genes contribute to the risk of developing IVF...
  44. ncbi request reprint Symptom complex is associated with transplant coronary artery disease and sudden death/resuscitated sudden death in pediatric heart transplant recipients
    Jack F Price
    Division of Pediatric Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Heart Lung Transplant 24:1798-803. 2005
    ..Symptom complexes associated with TCAD have not been well described. The purpose of this study was to determine if somatic complaints are associated with TCAD in pediatric heart transplant recipients...
  45. ncbi request reprint PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome
    John L Jefferies
    Section of Pediatric Cardiology, Texas Children s Hospital, 6621 Fannin, MC 19345 C, Houston, TX 77030, USA
    Pediatr Cardiol 31:114-6. 2010
    ..To our knowledge, this is the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome...
  46. doi request reprint Dilated cardiomyopathy
    John Lynn Jefferies
    Pediatric Cardiology, Texas Children s Hospital, Baylor College of Medicine, Houston, TX, USA
    Lancet 375:752-62. 2010
    ..Arrhythmia therapy and prevention of sudden death continue to be mainstays of treatment. Despite progress over the past 10 years, outcomes need to be improved...
  47. ncbi request reprint Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Pediatrics 114:925-31. 2004
    ..The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features...
  48. ncbi request reprint B-type natriuretic peptide is a sensitive screening test for acute rejection in pediatric heart transplant patients
    Joseph W Rossano
    Department of Pediatrics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    J Heart Lung Transplant 27:649-54. 2008
    ..The utility of B-type natriuretic peptide (BNP) for detecting acute rejection (AR) is unclear. The purpose of our study was to evaluate BNP as a screening test for AR in pediatric heart transplant patients...
  49. doi request reprint Myocardial pro-inflammatory cytokine expression and cellular rejection in pediatric heart transplant recipients
    John P Breinholt
    Department of Pediatrics Cardiology, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas, USA
    J Heart Lung Transplant 27:317-24. 2008
    ..We hypothesized that pro-inflammatory cytokine expression would increase in biopsy samples that manifest cellular rejection and that this would correlate with the development and progression of transplant cellular rejection...
  50. doi request reprint Short-term mechanical unloading and reverse remodeling of failing hearts in children
    Bhagyalaxmi Mohapatra
    Department of Pediatric Cardiology, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    J Heart Lung Transplant 29:98-104. 2010
    ..However, there is little knowledge of the changes in gene expression after short-term mechanical support in children with HF...
  51. pmc A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defects
    Kaveh Samani
    Electrophysiology Research Laboratory, Texas Heart Institute St Luke s Episcopal Hospital, Houston, Texas
    Pacing Clin Electrophysiol 32:1231-6. 2009
    ..Our study demonstrated that L1393X-SCN5A does not form functional channel proteins, which might account for the patient's mixed phenotypes of BrS and CCD...
  52. ncbi request reprint B-type natriuretic peptide predicts adverse cardiovascular events in pediatric outpatients with chronic left ventricular systolic dysfunction
    Jack F Price
    Department of Pediatrics, The Lillie Frank Abercrombie Section of Pediatric Cardiology, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
    Circulation 114:1063-9. 2006
    ..The range and predictive power of BNP concentrations in children with chronic heart failure, however, are not known...
  53. ncbi request reprint Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
    Matteo Vatta
    Department of Pediatrics Cardiology, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
    Circulation 114:2104-12. 2006
    ....
  54. doi request reprint Assessment of the Cylex ImmuKnow cell function assay in pediatric heart transplant patients
    Joseph W Rossano
    Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas, USA
    J Heart Lung Transplant 28:26-31. 2009
    ..Data on the utility of this test in pediatric heart transplant patients are very limited. This study tested the hypothesis that CICFA is a clinically useful test in this transplant population...
  55. ncbi request reprint Viral genomic detection and outcome in myocarditis
    Neil E Bowles
    Baylor College of Medicine, Houston, TX 77030, USA
    Heart Fail Clin 1:407-17. 2005
  56. ncbi request reprint Effect of body mass index on outcome in pediatric heart transplant patients
    Joseph W Rossano
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA
    J Heart Lung Transplant 26:718-23. 2007
    ..Obesity and cachexia are risk factors for adverse outcomes in adult transplant patients. However, little is known about the effects of body mass index (BMI) on outcomes in pediatric heart transplant patients...
  57. doi request reprint Worsening renal function in children hospitalized with decompensated heart failure: evidence for a pediatric cardiorenal syndrome?
    Jack F Price
    Department of Pediatrics, Baylor College of Medicine, The Lillie Frank Abercrombie Section of Pediatric Cardiology, Texas Children s Hospital, Houston, TX, USA
    Pediatr Crit Care Med 9:279-84. 2008
    ..The purpose of this study was to determine the incidence of renal insufficiency in children hospitalized with acute decompensated heart failure and whether worsening renal function is associated with adverse cardiovascular outcome...
  58. ncbi request reprint Molecular genetics of heterotaxy syndromes
    John W Belmont
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Curr Opin Cardiol 19:216-20. 2004
    ....
  59. ncbi request reprint Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 118:260-6. 2003
    ..This screen sets upper limits on the length of a CHARGE-related microdeletion, should that be the genetic mechanism underlying the phenotype...
  60. ncbi request reprint Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
    Bhagyalaxmi Mohapatra
    Department of Pediatrics Section of Cardiology, Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 80:207-15. 2003
    ..This mutation also disrupted the interaction with MLP and appeared to inhibit alpha-actinin function in cultured cells, in respect to the nuclear localization of actinin and the initiation of cellular differentiation...
  61. ncbi request reprint The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Neil E Bowles
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Am Coll Cardiol 39:892-5. 2002
    ..We sought to investigate the role of cardiotropic viruses, including adenovirus, cytomegalovirus (CMV), enterovirus and parvovirus, in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)...
  62. ncbi request reprint Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
    Matteo Vatta
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, Texas, USA
    J Am Coll Cardiol 42:2014-27. 2003
    ..We evaluated the role of Cypher/ZASP in the pathogenesis of dilated cardiomyopathy (DCM) with or without isolated non-compaction of the left ventricular myocardium (INLVM)...
  63. ncbi request reprint Late pacemaker requirement after pediatric orthotopic heart transplantation may predict the presence of transplant coronary artery disease
    Bryan C Cannon
    Division of Cardiology, Section of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas 77030, USA
    J Heart Lung Transplant 23:67-71. 2004
    ..The purpose of this study was to assess the incidence, indications and associations with regard to pacemaker placement in children who have undergone orthotopic heart transplantation...
  64. ncbi request reprint Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome
    Matteo Vatta
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 11:337-45. 2002
    ..Based upon these observations we suggest that SUNDS and Brugada syndrome are phenotypically, genetically and functionally the same disorder...
  65. pmc Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy
    K Maiellaro-Rafferty
    The Heart Institute, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    J Mol Cell Cardiol 60:151-60. 2013
    ..We suggest that these abnormalities correlate with detectable myocardial wall motion patterns...
  66. ncbi request reprint Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy
    S M Rivenes
    Department of Pediatrics, Cardiology, Texas Children s Hospital and Baylor College of Medicine, Houston 77030, USA
    Circulation 102:876-82. 2000
    ..Those who sustained sudden, unanticipated cardiac arrests were evaluated for risk factors that are predictive of sudden death...
  67. ncbi request reprint Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis
    W K Decker
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Mamm Genome 10:1041-2. 1999
  68. pmc Altered dystrophin expression in the right atrium of a patient after Fontan procedure with atrial flutter
    C J McMahon
    Department of Pediatrics Cardiology, Baylor College of Medicine and Texas Children s Hospital, 6621 Fannin, MC 19345 C, Houston, Texas 77030, USA
    Heart 90:e65. 2004
    ..This is the first report that patients with severe right atrial dilation and atrial flutter have marked reduction in atrial dystrophin expression...
  69. pmc Echocardiographic predictors of adverse clinical events in children with dilated cardiomyopathy: a prospective clinical study
    C J McMahon
    Lillie Frank Abercrombie Division of Pediatric Cardiology, Texas Children s Hospital, 6621 Fannin, Houston, Texas 77030, USA
    Heart 90:908-15. 2004
    ....
  70. pmc 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits
    S R Lalani
    Department of Molecular and Human Genetics, One Baylor Plaza, BCM225, MARB, R713, Houston, Texas 77030, USA
    J Med Genet 46:168-75. 2009
    ....
  71. pmc Postpericardiotomy syndrome in pediatric heart transplant recipients. Immunologic characteristics
    A K Cabalka
    Lillie Frank Abercrombie Section of Cardiology, Texas Children s Hospital, Houston 77030, USA
    Tex Heart Inst J 22:170-6. 1995
    ..We speculate that these changes in activation marker in PPS+ patients suggest a possible role for cell-mediated immunity in the pathogenesis of PPS in this group of patients...
  72. ncbi request reprint Identification of new markers in Xp21 between DXS28 (C7) and DMD
    K C Worley
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Genomics 13:957-61. 1992
    ..In addition to facilitating molecular genetic diagnosis in Xp21, these probes can be used to identify additional YACs and other probes to further increase the genomic information and diagnostic capabilities in this region...
  73. ncbi request reprint Safety and efficacy of nesiritide in pediatric heart failure
    John L Jefferies
    Division of Pediatric Cardiology, Texas Children s Hospital, Houston, Texas 77030, USA
    J Card Fail 13:541-8. 2007
    ..We hypothesized that recombinant B-type natriuretic peptide (BNP) (nesiritide) could improve urine output and neurohormonal markers of heart failure without worsening renal function in pediatric patients...
  74. ncbi request reprint Leukocyte suppression is associated with improved clinical outcomes in children's status after orthotopic heart transplantation
    Jeffrey J Kim
    Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas 77030, USA
    J Heart Lung Transplant 25:195-9. 2006
    ..Clinical outcomes in this patient population have not been well delineated...
  75. ncbi request reprint Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy
    Zhao Yang
    Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
    Circ Res 99:646-55. 2006
    ..These data suggest DSP expression in cardiomyocytes is crucial for maintaining cardiac tissue integrity, and DSP abnormalities result in ARVD/C by cardiomyocyte death, changes in lipid metabolism, and defects in cardiac development...
  76. ncbi request reprint Incidence, causes, and outcomes of dilated cardiomyopathy in children
    Jeffrey A Towbin
    Texas Children s Hospital, Baylor College of Medicine, Houston, USA
    JAMA 296:1867-76. 2006
    ..Dilated cardiomyopathy (DCM) is the most common form of cardiomyopathy and cause of cardiac transplantation in children. However, the epidemiology and clinical course of DCM in children are not well established...
  77. ncbi request reprint Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children
    Zhao Yang
    Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
    Circulation 112:1612-7. 2005
    ..In this study we investigated the frequency of LAMP2 mutations in an unselected pediatric HCM population...
  78. ncbi request reprint Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy
    M Gebbia
    Department of Pathology, Baylor College of Medicine, Houston, Tex 77030, USA
    Circulation 94:1909-12. 1996
    ..Missense base substitutions clustered in a 150-base pair region of the gap-junction gene connexin43 (cx43) have been implicated in the pathogenesis of heterotaxy...
  79. ncbi request reprint Myocarditis and pericarditis in adolescents
    J A Towbin
    Department of Pediatrics (Cardiology, Baylor College of Medicine, One Baylor Plaza, Room 333E, Houston, TX 77030, USA
    Adolesc Med 12:47-67. 2001
    ..As viral causes of both disorders are commonplace, issues regarding the identification of the causative virus and potential future approaches to the care of these individuals are also discussed...
  80. ncbi request reprint Myocardial Fas ligand expression increases susceptibility to AZT-induced cardiomyopathy
    Enkhsaikhan Purevjav
    Department of Pediatrics, Section of Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
    Cardiovasc Toxicol 7:255-63. 2007
    ..Highly active antiretroviral therapy (HAART) has significantly reduced morbidity and mortality of acquired immunodeficiency syndrome (AIDS), but has resulted in an increase in cardiac and skeletal myopathies...
  81. ncbi request reprint The efficacy of mitral valve surgery in children with dilated cardiomyopathy and severe mitral regurgitation
    John P Breinholt
    Department of Pediatrics, Baylor College of Medicine and Texas Children s Hospital, 6621 Fannin Street, Houston, TX 77030, USA
    Pediatr Cardiol 29:13-8. 2008
    ..Mitral valve surgery should be considered prior to heart transplant in children with dilated cardiomyopathy and severe mitral regurgitation...
  82. ncbi request reprint Novel mutations in domain I of SCN5A cause Brugada syndrome
    Matteo Vatta
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 75:317-24. 2002
    ..These three new SCN5A mutations in Brugada syndrome patients are all located within domain I of SCN5A, a region not previously considered important in the development of ventricular arrhythmias...
  83. ncbi request reprint A common SCN5A variant alters the responsiveness of human sodium channels to class I antiarrhythmic agents
    Mossaab Shuraih
    Electrophysiology Research Laboratory, Texas Heart Institute St Luke s Episcopal Hospital, Houston, Texas 77030, USA
    J Cardiovasc Electrophysiol 18:434-40. 2007
    ..However, little is known about the impact of those polymorphisms on the pharmocological response of hNav1.5 to various antiarrhythmic agents...
  84. ncbi request reprint Nesiritide therapy in a term neonate with renal disease
    Brady S Moffett
    Department of Pharmacy, Texas Children s Hospital, Houston, Texas 77030, USA
    Pharmacotherapy 26:281-4. 2006
    ..This case report demonstrates the successful first use of nesiritide therapy in a neonate with renal disease. Further studies are warranted to evaluate the safety and administration of this agent in the neonatal patient population...
  85. ncbi request reprint Characterization of left ventricular diastolic function by tissue Doppler imaging and clinical status in children with hypertrophic cardiomyopathy
    Colin J McMahon
    Lillie Frank Abercrombie Section of Pediatric Cardiology, Texas Children s Hospital, Houston, Tex 77030, USA
    Circulation 109:1756-62. 2004
    ....
  86. pmc A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness
    Kaveh Samani
    Electrophysiology Research Laboratory, Texas Heart Institute St Luke s Episcopal Hospital, Houston, Texas 77030, USA
    Heart Rhythm 6:1318-26. 2009
    ..Febrile illnesses have been recognized to unmask and/or trigger the BrS phenotype. However, the pathophysiological mechanism has not been fully elucidated...
  87. pmc ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene
    Mousumi Moulik
    Department of Pediatrics, Division of Cardiology, University of Texas Medical School Houston, Houston, Texas, USA
    J Am Coll Cardiol 54:325-33. 2009
    ....
  88. doi request reprint Risk factors and mode of death in isolated hypertrophic cardiomyopathy in children
    Jamie A Decker
    Lillie Frank Abercrombie Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Am Coll Cardiol 54:250-4. 2009
    ..This study was designed to review outcomes of pediatric isolated hypertrophic cardiomyopathy (HCM) managed uniformly at a single institution and assess whether reported adult risk factors for sudden death are predictive in pediatric HCM...
  89. ncbi request reprint Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy
    John L Jefferies
    Department of Cardiology, Texas Heart Institute, St Luke s Episcopal Hospital, Houston, Texas, USA
    Circulation 112:2799-804. 2005
    ..We hypothesized that early diagnosis and treatment of DCM in DMD/BMD patients would lead to ventricular remodeling and that specific dystrophin gene mutations would predict cardiac involvement...
  90. ncbi request reprint Administration of a large nesiritide bolus dose in a pediatric patient: case report and review of nesiritide use in pediatrics
    Brady S Moffett
    Department of Pharmacy, Texas Children s Hospital, Houston, Texas 77030, USA
    Pharmacotherapy 26:277-80. 2006
    ..Increased vigilance is always advised when administering drugs not commonly given to pediatric patients...
  91. ncbi request reprint Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy
    Anita M Arola
    Department of Pediatrics, Section of Cardiology, Baylor College of Medicine, Houston, TX, USA
    Mol Genet Metab 90:435-40. 2007
    ..The hemodynamic burden of pregnancy and/or other genetic or environmental factors could have precipitated heart failure symptoms in an individual with defective myocardial cytoarchitecture...
  92. pmc Treating children with idiopathic dilated cardiomyopathy (from the Pediatric Cardiomyopathy Registry)
    William G Harmon
    Department of Pediatrics, University of Miami, Leonard M Miller School of Medicine, Miami, Florida, USA
    Am J Cardiol 104:281-6. 2009
    ..In conclusion, therapeutic clinical trials are strongly indicated because practice variation is substantial and medical outcomes in these children have not improved in the previous several decades...
  93. ncbi request reprint Scarring in the heart--a reversible phenomenon?
    Jeffrey A Towbin
    Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine and Texas Children s Hospital, Houston, USA
    N Engl J Med 357:1767-8. 2007
  94. ncbi request reprint Improved outcomes of pediatric dilated cardiomyopathy with utilization of heart transplantation
    Anna E Tsirka
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
    J Am Coll Cardiol 44:391-7. 2004
    ..We studied the outcomes of pediatric patients diagnosed with dilated cardiomyopathy (DCM) and their relation to epidemiologic and echocardiographic variables at the time of presentation...
  95. doi request reprint Frequency of cardiac death in children with idiopathic dilated cardiomyopathy
    V Vivian Dimas
    Department of Pediatrics, Division of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Am J Cardiol 104:1574-7. 2009
    ..Given the 1% incidence of SCD in this cohort, the use of implantable cardioverter-defibrillators as primary prevention in children with IDC might not be indicated...
  96. ncbi request reprint Mutation screening for the genes causing cardiac arrhythmias
    Jeffrey A Towbin
    Pediatric Cardiology, Texas Children s Hospital, Houston, TX, USA
    Methods Mol Med 126:57-79. 2006
    ..In this chapter, current mutation screening methods, including denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing are described, and the current knowledge gained using these studies is discussed...
  97. ncbi request reprint Arginine vasopressin levels are elevated and correlate with functional status in infants and children with congestive heart failure
    Jack F Price
    Department of Pediatrics Cardiology, Baylor College of Medicine, Texas Children s Hospital, Houston, Tex 77030, USA
    Circulation 109:2550-3. 2004
    ....
  98. ncbi request reprint Postmortem cardiomegaly and echocardiographic measurements of left ventricular size and function in children infected with the human immunodeficiency virus. The Prospective P2C2 HIV Multicenter Study
    Debra L Kearney
    Department of Pathology, Baylor College of Medicine, Houston, TX 77030, USA
    Cardiovasc Pathol 12:140-8. 2003
    ..We sought to determine the postmortem prevalence, clinicopathologic relationships and importance of cardiomegaly in HIV-infected children...
  99. ncbi request reprint Mechanical circulatory support as a bridge to combined dual organ transplantation in children
    Jeffrey J Kim
    Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas 77030, USA
    J Heart Lung Transplant 25:1480-2. 2006
    ..We report the cases of 2 children with end-stage heart failure and renal failure who were successfully bridged to combined, single-donor heart and kidney transplantation with mechanical circulatory support...
  100. pmc Left ventricular non-compaction cardiomyopathy in children: characterisation of clinical status using tissue Doppler-derived indices of left ventricular diastolic relaxation
    Colin J McMahon
    Lillie Frank Abercrombie Section of Pediatric Cardiology, Texas Children s Hospital, Baylor College of Medicine, Houston, Texas, USA
    Heart 93:676-81. 2007
    ..It is unknown whether tissue Doppler (TD) velocities can predict adverse clinical outcomes including death and need for transplantation in children with LVNC...
  101. ncbi request reprint Radio-frequency catheter ablation of accessory pathway mediated tachycardia in a child after orthotopic heart transplantation
    Jeffrey J Kim
    Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas 77030, USA
    J Heart Lung Transplant 24:1444. 2005
    ..This is the first report of a child having received a donor heart with manifest pre-excitation and who subsequently underwent successful radio-frequency ablation of the accessory pathway...

Research Grants3

  1. Multidisciplinary Study of Right Ventricular Dysplasia
    Jeffrey Towbin; Fiscal Year: 2005
    ..This integrated research grant proposal offers a substantial prospect of expanding the fund of clinical knowledge regarding ARVD and of localizing the gene(s) responsible for this disorder. ..
  2. Pediatric Cardiomyopathy Specimen Repository
    Jeffrey Towbin; Fiscal Year: 2007
    ....
  3. Pediatric Cardiomyopathy Specimen Repository
    Jeffrey Towbin; Fiscal Year: 2008
    ....