MICHAEL JOHN ACKERMAN

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi request reprint Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies
    Michael J Ackerman
    Long QT Syndrome Clinic and Sudden Death Genomics Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN, USA
    Semin Pediatr Neurol 12:52-8. 2005
  2. pmc Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome
    Keith A Dufendach
    Mayo Clinic, Rochester, MN 55905, USA
    Pediatrics 131:e1991-5. 2013
  3. ncbi request reprint Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins
    A P Landstrom
    Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Curr Mol Med 12:507-18. 2012
  4. pmc Genomic risk factors in sudden infant death syndrome
    David W Van Norstrand
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN 55905, USA
    Genome Med 2:86. 2010
  5. pmc SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr
    Stacy A S Killen
    Department of Medicine, Vanderbilt University, Nashville, TN, USA
    BMC Med Genet 11:74. 2010
  6. ncbi request reprint Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
    M J Ackerman
    Departments of Medicine, Pediatrics, and Molecular Pharmacology, Mayo Clinic, 200 First St SW, Rochecter, MN 55905, USA
    JAMA 286:2264-9. 2001
  7. ncbi request reprint Genetic testing for risk stratification in hypertrophic cardiomyopathy and long QT syndrome: fact or fiction?
    Michael J Ackerman
    Department of Medicine, Long QT Syndrome Clinic and Sudden Death Genomics Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Curr Opin Cardiol 20:175-81. 2005
  8. pmc State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young
    Michael J Ackerman
    Long QT Syndrome Clinic, Genomics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Pacing Clin Electrophysiol 32:S86-9. 2009
  9. ncbi request reprint Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
    Michael J Ackerman
    Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 1:600-7. 2004
  10. ncbi request reprint Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome
    Michael J Ackerman
    Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic, Rochester, Minn 55905, USA
    Mayo Clin Proc 78:1479-87. 2003

Research Grants

  1. Cardiac Channel Mutations in SIDS
    Michael Ackerman; Fiscal Year: 2005
  2. Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)
    Michael Ackerman; Fiscal Year: 2007
  3. Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)
    MICHAEL JOHN ACKERMAN; Fiscal Year: 2010

Detail Information

Publications86

  1. ncbi request reprint Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies
    Michael J Ackerman
    Long QT Syndrome Clinic and Sudden Death Genomics Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN, USA
    Semin Pediatr Neurol 12:52-8. 2005
    ..Previously confined to the purview of research testing, diagnostic genetic testing for several channelopathies is now available for routine clinical use...
  2. pmc Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome
    Keith A Dufendach
    Mayo Clinic, Rochester, MN 55905, USA
    Pediatrics 131:e1991-5. 2013
    ..Thus, a shared partial phenotype should not be dismissed as a benign or insignificant finding, but should be evaluated further to rule out the possibility of parental mosaicism concealing a potentially fatal heritable disease...
  3. ncbi request reprint Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins
    A P Landstrom
    Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Curr Mol Med 12:507-18. 2012
    ....
  4. pmc Genomic risk factors in sudden infant death syndrome
    David W Van Norstrand
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN 55905, USA
    Genome Med 2:86. 2010
    ..Last, this review explores how the current information can be applied to aid in our assessment of the at risk infant population...
  5. pmc SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr
    Stacy A S Killen
    Department of Medicine, Vanderbilt University, Nashville, TN, USA
    BMC Med Genet 11:74. 2010
    ..We hypothesized that some heterozygous carriers may have unequal expression of wild-type and variant alleles and secondarily that predominance of the variant gene copy could further increase risk for sudden death in this population...
  6. ncbi request reprint Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
    M J Ackerman
    Departments of Medicine, Pediatrics, and Molecular Pharmacology, Mayo Clinic, 200 First St SW, Rochecter, MN 55905, USA
    JAMA 286:2264-9. 2001
    ....
  7. ncbi request reprint Genetic testing for risk stratification in hypertrophic cardiomyopathy and long QT syndrome: fact or fiction?
    Michael J Ackerman
    Department of Medicine, Long QT Syndrome Clinic and Sudden Death Genomics Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Curr Opin Cardiol 20:175-81. 2005
    ..It is now critical to carefully scrutinize the relationships between genotype and phenotype as they pertain to clinical practice...
  8. pmc State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young
    Michael J Ackerman
    Long QT Syndrome Clinic, Genomics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Pacing Clin Electrophysiol 32:S86-9. 2009
    ..Postmortem genetic testing known as the cardiac channel molecular autopsy is capable of identifying the subset of channelopathic SUD/SIDS...
  9. ncbi request reprint Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
    Michael J Ackerman
    Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 1:600-7. 2004
    ..The purpose of this study was to determine the prevalence and spectrum of nonsynonymous polymorphisms (amino acid variants) in the cardiac sodium channel among healthy subjects...
  10. ncbi request reprint Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome
    Michael J Ackerman
    Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic, Rochester, Minn 55905, USA
    Mayo Clin Proc 78:1479-87. 2003
    ..To determine the spectrum, frequency, and ethnic-specificity of channel variants in the potassium channel genes implicated in congenital long QT syndrome (LQTS) among healthy subjects...
  11. pmc Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome
    John R Giudicessi
    Department of Medicine Division of Cardiovascular Diseases, Department of Pediatrics Division of Pediatric Cardiology, and Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA
    Heart Rhythm 8:1024-32. 2011
    ..Given the prominent role of the transient outward current (I(to)) in BrS pathogenesis, we hypothesized that rare gain-of-function mutations in KCND3 may serve as a pathogenic substrate for BrS...
  12. ncbi request reprint Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness
    M J Ackerman
    Department of Pediatric and Adolescent Medicine, Mayo Eugenio Litta Children s Hospital, Mayo Clinic Mayo Foundation, Rochester, MN 55905, USA
    J Thorac Cardiovasc Surg 122:169-77. 2001
    ..This study sought to objectively characterize this problem and determine the prevalence of airway hyperresponsiveness in these patients...
  13. ncbi request reprint Genotype-phenotype relationships in congenital long QT syndrome
    Michael J Ackerman
    Department of Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Electrocardiol 38:64-8. 2005
  14. ncbi request reprint Acquired long QT syndrome secondary to cesium chloride supplement
    Himeshkumar Vyas
    Department of Pediatrics Division of Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Altern Complement Med 12:1011-4. 2006
    ..A brief discussion of the pathophysiology of this agent follows the case presentation...
  15. pmc Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death
    David W Van Norstrand
    Mayo Clinic, MN 55905, USA
    Circulation 125:474-81. 2012
    ..GJA1 mutations have been associated with cardiac diseases, including atrial fibrillation. Therefore, GJA1 is a plausible candidate gene for premature sudden death...
  16. ncbi request reprint Molecular autopsy of sudden unexplained death in the young
    M J Ackerman
    Department of Internal Medicine, Mayo Eugenio Litta Children s Hospital, Mayo Clinic Mayo Foundation, Rochester, Minnesota 55905, USA
    Am J Forensic Med Pathol 22:105-11. 2001
    ..The combination of catecholamine provocation testing in survivors and a postmortem LQTS gene analysis may unmask families with "concealed" LQTS and establish the cause and manner of death in SUDS...
  17. ncbi request reprint Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective
    Michael J Ackerman
    Department of Internal Medicine Division of Cardiovascular Diseases, Rochester, Minnesota 55905, USA
    J Am Coll Cardiol 39:2042-8. 2002
    ..The goal of this study was to determine the prevalence of "malignant" mutations in hypertrophic cardiomyopathy (HCM)...
  18. ncbi request reprint Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome
    Michael J Ackerman
    Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Mayo Clin Proc 77:413-21. 2002
    ..To determine the effect of epinephrine on the QT interval in patients with genotyped long QT syndrome (LQTS)...
  19. ncbi request reprint Molecular basis of congenital and acquired long QT syndromes
    Michael J Ackerman
    Department of Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA
    J Electrocardiol 37:1-6. 2004
  20. doi request reprint QTc values among children and adolescents presenting to the emergency department
    Charlotte S Van Dorn
    Department of Pediatrics, Mayo Clinic, Rochester, MN, USA
    Pediatrics 128:e1395-401. 2011
    ..We sought to evaluate the distribution and clinical significance of QT intervals in the ED...
  21. ncbi request reprint Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results
    David J Tester
    Department of Internal Medicine, Divisions of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 3:815-21. 2006
    ..Possible explanations for the remaining genotype-negative cases include LQTS mimickers, novel LQTS-causing genes, unexplored regions of the known genes, and genetic testing detection failures...
  22. ncbi request reprint Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing
    David J Tester
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Heart Rhythm 2:1099-105. 2005
    ..Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel cause type 1 catecholaminergic polymorphic ventricular tachycardia (CPVT1)...
  23. ncbi request reprint Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy
    Sara L Van Driest
    Departments of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    J Am Coll Cardiol 44:602-10. 2004
    ..We sought to determine the prevalence and phenotype of beta-myosin heavy chain gene MYH7 mutations in a large cohort of unrelated patients with hypertrophic cardiomyopathy (HCM)...
  24. ncbi request reprint Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
    David J Tester
    Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 2:507-17. 2005
    ..The purpose of this study was to determine the spectrum and prevalence of cardiac channel mutations among a large cohort of consecutive, unrelated patients referred for long QT syndrome (LQTS) genetic testing...
  25. ncbi request reprint Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minn 55905, USA
    Circulation 106:3085-90. 2002
    ..The frequency and associated phenotype of these mutations in a large, unselected cohort of HCM is unknown...
  26. ncbi request reprint Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing
    Dipika Sharma
    Department of Internal Medicine, Division of Cardiovascular Medicine, University of California, Davis One Shields Avenue, TB 172 Davis, CA 95616, USA
    J Mol Cell Cardiol 37:79-89. 2004
    ..These findings underscore the importance of distinguishing channel polymorphisms from mutations pathogenic for LQTS and emphasize the importance of using appropriate ethnically matched controls in the genotypic analysis of LQTS...
  27. ncbi request reprint Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minn 55905, USA
    Circulation 108:445-51. 2003
    ..However, the frequency of these mutations and their associated phenotype(s) from a large tertiary referral center population are unknown...
  28. pmc Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
    Jamie D Kapplinger
    Department of Medicine, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Heart Rhythm 6:1297-303. 2009
    ..Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic testing has matured from discovery to translation and now clinical implementation...
  29. ncbi request reprint Effect of clinical phenotype on yield of long QT syndrome genetic testing
    David J Tester
    Division of Cardiovascular Diseases and Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Am Coll Cardiol 47:764-8. 2006
    ..The purpose of this study was to examine the effect of clinical phenotype on the yield of genetic testing for congenital long QT syndrome (LQTS)...
  30. pmc Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation
    Carmen R Valdivia
    Department of Medicine, Cardiovascular Section, and the Cardiac Molecular Arrhythmias Research Program, University of Wisconsin Madison, 600 Highland Avenue H6 349, Madison, WI 53792, USA
    Cardiovasc Res 86:392-400. 2010
    ..5 is regulated by four sodium channel auxiliary beta subunits. Here, we report a case with IVF and a novel mutation in the SCN3B-encoded sodium channel beta subunit Navbeta3 that causes a loss of function of Nav1.5 channels in vitro...
  31. ncbi request reprint Long QT syndrome in adults
    Andrew J Sauer
    Cardiology Unit of the Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642 8653, USA
    J Am Coll Cardiol 49:329-37. 2007
    ....
  32. pmc Mutation-specific risk in two genetic forms of type 3 long QT syndrome
    Judy F Liu
    Heart Research Follow Up Program, Cardiology Division, Department of Medicine, University of Rochester Medical Center, Rochester, New York, USA
    Am J Cardiol 105:210-3. 2010
    ..The findings highlight the importance of knowing the specific mutation in risk stratification of patients with long QT syndrome type 3...
  33. pmc Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current
    Jianding Cheng
    Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USA
    Circ Arrhythm Electrophysiol 2:667-76. 2009
    ..This study determined the prevalence and functional properties of SIDS-associated SNTA1 mutations...
  34. ncbi request reprint Pathogenesis of unexplained drowning: new insights from a molecular autopsy
    David J Tester
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    Mayo Clin Proc 80:596-600. 2005
    ....
  35. ncbi request reprint Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome
    Anant Khositseth
    Department of Pediatric and Adolescent Medicine Division of Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 1:60-4. 2004
    ..The aim of this study was to elucidate the genetic basis for long QT syndrome (LQTS) in patients with a personal or family history of postpartum cardiac events...
  36. pmc Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3
    Lisa B Cronk
    Mayo Medical School, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 4:161-6. 2007
    ..We recently established CAV3-encoded caveolin-3 as a novel LQTS-associated gene with mutations producing a gain-of-function, LQT3-like molecular/cellular phenotype...
  37. pmc Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia
    Amanda L Vega
    Department of Medicine, University of Wisconsin, Madison, Wisconsin 53792, USA
    Circ Arrhythm Electrophysiol 2:540-7. 2009
    ..The aim of this study was to characterize the biophysical and cellular phenotype of a KCNJ2 missense mutation, V227F, found in a patient with catecholaminergic polymorphic ventricular tachycardia...
  38. ncbi request reprint Postmortem long QT syndrome genetic testing for sudden unexplained death in the young
    David J Tester
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota 55905 0001, USA
    J Am Coll Cardiol 49:240-6. 2007
    ..This study sought to determine the spectrum and prevalence of long QT syndrome (LQTS)-associated mutations in a large cohort of autopsy-negative sudden unexplained death (SUD)...
  39. pmc Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants
    Suraj Kapa
    Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
    Circulation 120:1752-60. 2009
    ..We sought to quantify the value of mutation type and gene/protein region in determining the probability of pathogenicity for mutations...
  40. ncbi request reprint Epinephrine QT stress testing in congenital long QT syndrome
    Himeshkumar Vyas
    Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Electrocardiol 39:S107-13. 2006
    ..We have also attempted to highlight the differences between the two major LQTS epinephrine QT stress test protocols, the Mayo protocol and the Shimizu protocol...
  41. pmc The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame muta
    Argelia Medeiros-Domingo
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Am Coll Cardiol 54:2065-74. 2009
    ..This study was undertaken to determine the spectrum and prevalence of mutations in the RYR2-encoded cardiac ryanodine receptor in cases with exertional syncope and normal corrected QT interval (QTc)...
  42. ncbi request reprint Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes
    Grace Choi
    Department of Pediatric and Adolescent Medicine Division of Cardiovascular Disease, Mayo Clinic College of Medicine, Rochester, Minn, USA
    Circulation 110:2119-24. 2004
    ..We hypothesize that mimickers of concealed LQT1, namely catecholaminergic polymorphic ventricular tachycardia (CPVT), may also underlie swimming-triggered cardiac events...
  43. ncbi request reprint Catecholamine-induced T-wave lability in congenital long QT syndrome: a novel phenomenon associated with syncope and cardiac arrest
    Jan Nemec
    Division of Cardiovascular Diseases and Internal Medicine Mayo Clinic, Rochester, Minn 55905, USA
    Mayo Clin Proc 78:40-50. 2003
    ..To determine the effects of phenylephrine and dobutamine on repolarization lability in patients with genotyped long QT syndrome (LQTS)...
  44. ncbi request reprint Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects
    Jonathan Sherman
    Mayo Medical School, 200 First Street SW, Rochester, MN 55905, USA
    Heart Rhythm 2:1218-23. 2005
    ..Mutations in ANK2-encoded ankyrin-B underlie long QT syndrome type 4 (LQT4) and various other dysrhythmia phenotypes...
  45. ncbi request reprint Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing
    David J Tester
    Department of Molecular Pharmacology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 3:800-5. 2006
    ..Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin cause catecholaminergic polymorphic ventricular tachycardia (CPVT1 and CPVT2, respectively)...
  46. pmc A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia
    Bi Hua Tan
    Department of Medicine, Cardiovascular Section, University of Wisconsin Madison, 600 Highland Ave H6 349, Madison, WI 53792, USA
    Cardiovasc Res 76:409-17. 2007
    ..Here we report a family harboring an SCN5A mutation (L1821fs/10) causing a truncation of the C-terminus with a marked and complex biophysical phenotype and a corresponding variable and complex clinical phenotype with variable penetrance...
  47. ncbi request reprint Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels
    Blake D Anson
    Department of Medicine, University of Wisconsin, 1300 University Ave, Madison, WI 53711, USA
    Am J Physiol Heart Circ Physiol 286:H2434-41. 2004
    ..All HERG channels had similar sensitivity to block by cisapride. Therefore, some HERG polymorphic channels are electrophysiologically different from WT channels...
  48. pmc Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene
    Arthur J Moss
    Cardiology Division, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA
    Circulation 115:2481-9. 2007
    ..We evaluated the effect of location, coding type, and biophysical function of KCNQ1 mutations on the clinical phenotype of this disorder...
  49. pmc Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy
    Yuri A Saito
    Enteric Neuroscience Program, Miles and Shirley Fiterman Center for Digestive Disease, Mayo Clinic, Rochester, MN 55905, USA
    Am J Physiol Gastrointest Liver Physiol 296:G211-8. 2009
    ..In conclusion, the G298S-SCN5A missense mutation caused a marked reduction of whole cell Na(+) current and loss of function of Na(v)1.5, suggesting SCN5A as a candidate gene in the pathophysiology of IBS...
  50. doi request reprint Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy
    J Martijn Bos
    Department of Internal Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
    Am Heart J 155:1128-34. 2008
    ..We sought to evaluate the influence of sex on the HCM phenotype in a large cohort of unrelated patients with genetically and morphologically classified HCM...
  51. ncbi request reprint Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response
    Himeshkumar Vyas
    Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA
    Circulation 113:1385-92. 2006
    ..Secondary analysis of the subset undergoing beta-blocker therapy indicated inferior diagnostic utility in this setting. CONCLUSIONS: The epinephrine QT stress test can unmask concealed type 1 LQTS with a high level of accuracy...
  52. ncbi request reprint Effect of phenylephrine provocation on dispersion of repolarization in congenital long QT syndrome
    Anant Khositseth
    Department of Pediatric and Adolescent Medicine Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Ann Noninvasive Electrocardiol 8:208-14. 2003
    ..Abnormal spatial (QTd)- and transmural (TDR)-dispersion of repolarization may indicate increased arrhythmogenicity. This study compares the effect of phenylephrine on QTd and TDR in genotyped LQTS to control (C)...
  53. ncbi request reprint Gastrointestinal symptoms in families of patients with an SCN5A-encoded cardiac channelopathy: evidence of an intestinal channelopathy
    G Richard Locke
    Enteric Neuroscience Program, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Am J Gastroenterol 101:1299-304. 2006
    ..The aim of this study was to determine if the cardiac channelopathy-associated mutations in SCN5A or KCNH2 are associated with GI symptom complexes...
  54. ncbi request reprint Syncope in children and adolescents and the congenital long QT syndrome
    Anant Khositseth
    Department of Pediatric and Adolescent Medicine Division of Pediatric Cardiology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Am J Cardiol 92:746-9. 2003
    ..The distribution of heart rate corrected QT intervals (QTc) was compared with age- and sex-matched controls. Only one patient had QTc >470 ms...
  55. pmc Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
    Kazuo Ueda
    Department of Medicine, University of Wisconsin, Madison, WI 53792, USA
    Proc Natl Acad Sci U S A 105:9355-60. 2008
    ..These results establish an SNTA1-based nNOS complex attached to SCN5A as a key regulator of sodium current and suggest that SNTA1 be considered a rare LQTS-susceptibility gene...
  56. ncbi request reprint Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy
    Steve R Ommen
    Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Am Coll Cardiol 46:470-6. 2005
    ..This study sought to determine the impact of surgical myectomy on long-term survival in hypertrophic cardiomyopathy (HCM)...
  57. ncbi request reprint Yield of genetic testing in hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mayo Clin Proc 80:739-44. 2005
    ..To determine the clinical parameters of hypertrophic cardiomyopathy (HCM) that correlated significantly with the presence of an identifiable sarcomeric mutation...
  58. pmc Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A
    Argelia Medeiros-Domingo
    Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota 55905, USA
    Heart Rhythm 6:1170-5. 2009
    ....
  59. ncbi request reprint Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    J Am Coll Cardiol 44:1903-10. 2004
    ..We sought to determine the frequency and phenotype of mutations in myosin binding protein C (MYBPC3) in a large outpatient cohort of patients with hypertrophic cardiomyopathy (HCM) seen at our tertiary referral center...
  60. pmc Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations
    Christopher J McLeod
    Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Am Heart J 158:799-805. 2009
    ..The presence of cardiac myofilament and mutations and RAAS polymorphisms will have a strong association with the severity of histologic features of HC and characteristic septal shape...
  61. ncbi request reprint Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome
    Jan Nemec
    Department of Internal Medicine Division of Cardiovascular Diseases, Mayo Clinic, Rochester Minnesota 55905, USA
    Pacing Clin Electrophysiol 26:1660-7. 2003
    ..Catecholamine-provoked microV-TWA occurs at lower HR in patients with LQTS than in healthy people but does not identify high risk subjects...
  62. doi request reprint Cardiac channel molecular autopsy for sudden unexpected death in epilepsy
    Jonathan N Johnson
    Department of Pediatrics Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Child Neurol 25:916-21. 2010
    ..To our knowledge, this is the first postmortem molecular diagnosis of catecholaminergic polymorphic ventricular tachycardia in a patient with sudden unexpected death in epilepsy...
  63. doi request reprint Beta-blocker efficacy in high-risk patients with the congenital long-QT syndrome types 1 and 2: implications for patient management
    Ilan Goldenberg
    Cardiology Division, Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    J Cardiovasc Electrophysiol 21:893-901. 2010
    ..However, limited data exist regarding the efficacy and limitations of this form of medical management within high-risk subsets of these populations...
  64. ncbi request reprint When I go in to wake them ... I wonder: parental perceptions about congenital long QT syndrome
    Monica M Farnsworth
    Division of Education and Professional Development, Mayo Clinic, Rochester, Minnesota 55902, USA
    J Am Acad Nurse Pract 18:284-90. 2006
    ..Information from parents of children with this diagnosis can provide insight to healthcare providers who care for these families...
  65. ncbi request reprint A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy
    Vlad C Vasile
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Biochem Biophys Res Commun 345:998-1003. 2006
    ..We provide the first report of a cardiomyopathy associated mutation in vinculin. Despite its ubiquitous expression, the HCM-associated VCL mutation clinically yielded a cardiac-specific phenotype...
  66. ncbi request reprint Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism
    Corey L Anderson
    Department of Medicine, University of Wisconsin Madison, WI, USA
    Circulation 113:365-73. 2006
    ..1 current (IKv11.1). We tested the hypotheses that (1) most LQT2 missense mutations generate trafficking-deficient Kv11.1 channels, and (2) their trafficking-deficient phenotype can be corrected...
  67. ncbi request reprint Long QT syndrome and pregnancy
    Rahul Seth
    Cardiology Division of the Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642, USA
    J Am Coll Cardiol 49:1092-8. 2007
    ..This study was designed to investigate the clinical course of women with long QT syndrome (LQTS) throughout their potential childbearing years...
  68. ncbi request reprint Diagnostic miscues in congenital long-QT syndrome
    Nathaniel W Taggart
    Department of Pediatrics Division of Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Circulation 115:2613-20. 2007
    ..We sought to determine the agreement between the dismissal diagnosis from an LQTS subspecialty clinic and the original referral diagnosis...
  69. ncbi request reprint Does low-dose droperidol administration increase the risk of drug-induced QT prolongation and torsade de pointes in the general surgical population?
    Gregory A Nuttall
    Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Anesthesiology 107:531-6. 2007
    ..The US Food and Drug Administration issued a black box warning regarding the use of droperidol and the potential for torsade de pointes (TdP)...
  70. pmc Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome
    David W Van Norstrand
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN 55905, USA
    Circulation 116:2253-9. 2007
    ..We hypothesized that mutations in GPD1-L may be responsible for some cases of sudden unexplained death/sudden infant death syndrome...
  71. doi request reprint Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome
    Ilan Goldenberg
    Cardiology Division of the Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
    Circulation 117:2184-91. 2008
    ..However, specific risk factors for life-threatening cardiac events in children with this genetic disorder have not been identified...
  72. pmc Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome
    David W Van Norstrand
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Heart Rhythm 5:712-5. 2008
    ..The S1103Y-SCN5A polymorphism has been implicated as a proarrhythmic, sudden death predisposing risk factor in African Americans, including one postmortem investigation of African-American infants with sudden infant death syndrome (SIDS)...
  73. pmc Unexplained drownings and the cardiac channelopathies: a molecular autopsy series
    David J Tester
    Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA
    Mayo Clin Proc 86:941-7. 2011
    ..To determine the prevalence and spectrum of mutations associated with long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) in a seemingly unexplained drowning cohort...
  74. ncbi request reprint A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine
    Carmen R Valdivia
    Departments of Medicine and Physiology, University of Wisconsin, Madison, WI, USA
    Cardiovasc Res 55:279-89. 2002
    ..Mutations in the cardiac sodium channel gene, SCN5A, cause congenital long QT syndrome (LQT3), Brugada syndrome, idiopathic ventricular fibrillation, and conduction disease by distinct cellular and clinical electrophysiological phenotypes...
  75. ncbi request reprint Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related Gene
    Elon C Roti Roti
    Department of Physiology, University of Wisconsin, Madison, Wisconsin 53706, USA
    J Biol Chem 277:47779-85. 2002
    ..We propose that the cytoplasmic C terminus of HERG participates in the tethering or possibly targeting of HERG-containing vesicles within the Golgi via its interaction with GM130...
  76. 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
    ....
  77. pmc Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C
    Andrew P Landstrom
    Mayo Medical School, Mayo Clinic, Rochester, MN, USA
    J Mol Cell Cardiol 45:281-8. 2008
    ..This study may help to further define TNNC1 as an HCM-susceptibility gene, a classification that has already been established for the other members of the troponin complex...
  78. ncbi request reprint A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
    Jonathan C Makielski
    Department of Medicine, University of Wisconsin, 600 Highland Ave H6 349, Madison, Wis 53792, USA
    Circ Res 93:821-8. 2003
    ..These results have implications for the choice of background sequence for experiments with heterologous expression systems, and possibly implications for electrophysiological function in vivo...
  79. doi request reprint Prevalence of early-onset atrial fibrillation in congenital long QT syndrome
    Jonathan N Johnson
    Department of Pediatrics Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Heart Rhythm 5:704-9. 2008
    ..A mechanism of atrial torsade has been suggested to occur in patients with congenital long QT syndrome (LQTS)...
  80. pmc KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties
    Lee L Eckhardt
    Department of Medicine Cardiovascular Medicine, University of Wisconsin, Madison, WI 53792, USA
    Heart Rhythm 4:323-9. 2007
    ..Do KCNJ2 mutations occur in patients lacking this triad and lacking a family history of ATS?..
  81. pmc Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue
    Elisa Carturan
    Department of Medico Diagnostic Sciences and Special Therapies, University of Padua Medical School, Padua, Italy
    Am J Clin Pathol 129:391-7. 2008
    ..Given these shortcomings, the standard autopsy for SUD should include archiving EDTA-preserved blood or frozen tissue to facilitate postmortem genetic testing...
  82. ncbi request reprint Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy
    Michael J Ackerman
    J Am Coll Cardiol 50:2404-5. 2007
  83. ncbi request reprint Cardiac channelopathies: it's in the genes
    Michael J Ackerman
    Nat Med 10:463-4. 2004
  84. pmc A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors
    David J Tester
    Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, Minnesota 55901, USA
    Heart Rhythm 4:733-9. 2007
    ..Mutations in the RyR2-encoded cardiac ryanodine receptor cause the highly lethal catecholaminergic polymorphic ventricular tachycardia (CPVT1) in the young...
  85. ncbi request reprint Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 85:280-5. 2005
    ..Furthermore, these findings suggest that mutations altering myocyte energetics may act in synergy with sarcomeric mutations to cause hypertrophic cardiomyopathy...
  86. ncbi request reprint Blockade of HERG channels by HIV protease inhibitors
    Blake D Anson
    Department of Medicine, University of Wisconsin Madison, Madison, WI, USA
    Lancet 365:682-6. 2005
    ..Our data show that four protease inhibitors block HERG channels, suggesting that protease inhibitors could predispose individuals to QT prolongation and torsade de pointes...

Research Grants8

  1. Cardiac Channel Mutations in SIDS
    Michael Ackerman; Fiscal Year: 2005
    ..Such a discovery could have significant implications on attempts to further reduce the incidence of SIDS in our country and throughout the world. ..
  2. Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)
    Michael Ackerman; Fiscal Year: 2007
    ....
  3. Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)
    MICHAEL JOHN ACKERMAN; Fiscal Year: 2010
    ....