Michael J Ackerman

Michael J Ackerman

UNVERIFIED PROFILE

Are you Michael J Ackerman?   Register this Author

Register author
Michael J Ackerman

Michael J Ackerman

Publications by authors named "Michael J Ackerman"

Are you Michael J Ackerman?   Register this Author

100Publications

2370Reads

12Profile Views

Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations.

J Cardiovasc Transl Res 2019 Oct 22;12(5):394-403. Epub 2019 Feb 22.

Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, 55905, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12265-019-09873-6DOI Listing
October 2019

Variants Cause Cardiomyocyte Hypertrophy in Patient-Specific iPSC-Derived Cardiomyocytes: Additional Evidence for as a Definitive Noonan Syndrome-Susceptibility Gene.

Circ Genom Precis Med 2019 Oct 22. Epub 2019 Oct 22.

Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Department of Cardiovascular Medicine/Division of Heart Rhythm Services, Mayo Clinic Alix School of Medicine, Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.119.002648DOI Listing
October 2019

Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign.

Heart Rhythm 2019 Sep 5. Epub 2019 Sep 5.

Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15475271193073
Publisher Site
http://dx.doi.org/10.1016/j.hrthm.2019.08.014DOI Listing
September 2019

Effective Use of Percutaneous Stellate Ganglion Blockade in Patients With Electrical Storm.

Circ Arrhythm Electrophysiol 2019 Sep 13;12(9):e007118. Epub 2019 Sep 13.

Division of Heart Rhythm Services, Department of Cardiovascular Medicine (Y.T., S.K., P.X., P.A.N., S.K.M., A.J.D., H.-C.L., M.J.A., S.J.A., T.M.M., P.A.F., Y.-M.C.), Mayo Clinic, Rochester, MN.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCEP.118.007118DOI Listing
September 2019

The Effect of Left Cardiac Sympathetic Denervation on Exercise in Patients With Long QT Syndrome.

JACC Clin Electrophysiol 2019 Sep;5(9):1084-1090

Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic College of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota; Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacep.2019.06.008DOI Listing
September 2019

Exercise testing oversights underlie missed and delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia in young sudden cardiac arrest survivors.

Heart Rhythm 2019 Aug 11;16(8):1232-1239. Epub 2019 Feb 11.

Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota; Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2019.02.012DOI Listing
August 2019

In reply-Strategies of Screening for Fabry Disease in Patients With Unexplained Left Ventricular Hypertrophy.

Mayo Clin Proc 2019 Aug;94(8):1646

Division of Pediatric Cardiology, Department of Pediatrics, Department of Cardiovascular Disease and Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mayocp.2019.05.004DOI Listing
August 2019

Findings of Uncertain Significance and a Family History of Sudden Death: Worth the FUSs?

J Am Coll Cardiol 2019 Aug;74(6):771-773

Department of Cardiovascular Medicine, Clinician-Investigator Training Program, Mayo Clinic, Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2019.06.042DOI Listing
August 2019

Evaluation After Sudden Death in the Young.

Circ Arrhythm Electrophysiol 2019 Aug 19;12(8):e007453. Epub 2019 Aug 19.

Cardiology Clinical Academic Group, St. George's University of London (B.G., E.R.B.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCEP.119.007453DOI Listing
August 2019

Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.

Circ Genom Precis Med 2019 Aug 20;12(8):e002534. Epub 2019 Aug 20.

Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.119.002534DOI Listing
August 2019

Pediatric-Onset Arrhythmogenic Cardiomyopathy: Look Right, Look Left, Look Both Ways.

J Am Coll Cardiol 2019 Jul;74(3):359-361

Department of Cardiovascular Medicine, Clinician-Investigator Training Program, Mayo Clinic, Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2019.05.023DOI Listing
July 2019

Left cardiac sympathetic denervation for recurrent ventricular tachyarrhythmias in children with congenital heart disease.

HeartRhythm Case Rep 2019 Jul 3;5(7):392-394. Epub 2019 May 3.

Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrcr.2019.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6630183PMC
July 2019

The QT Interval.

Circulation 2019 Jun 10;139(24):2711-2713. Epub 2019 Jun 10.

Department of Cardiovascular Medicine, Division of Heart Rhythm Services (P.A.N., M.J.A.), Mayo Clinic, Rochester, MN.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.119.039598DOI Listing
June 2019

A Novel Truncating Variant in FLNC-Encoded Filamin C May Serve as a Proarrhythmic Genetic Substrate for Arrhythmogenic Bileaflet Mitral Valve Prolapse Syndrome.

Mayo Clin Proc 2019 05 29;94(5):906-913. Epub 2019 Mar 29.

Clinician-Investigator Training Program, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00256196183098
Publisher Site
http://dx.doi.org/10.1016/j.mayocp.2018.11.028DOI Listing
May 2019

Mexiletine Shortens the QT Interval in Patients With Potassium Channel-Mediated Type 2 Long QT Syndrome.

Circ Arrhythm Electrophysiol 2019 May;12(5):e007280

Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (J.M.B., R.K.R., M.J.A.), Mayo Clinic, Rochester, MN.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCEP.118.007280DOI Listing
May 2019

Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance.

Circ Genom Precis Med 2019 May;12(5):e002510

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (D.J.T., J.M.B., M.J.A.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.119.002510DOI Listing
May 2019

QT Prolongation, Torsades de Pointes, and Psychotropic Medications: A 5-Year Update.

Psychosomatics 2018 Mar - Apr;59(2):105-122. Epub 2017 Nov 3.

Harvard Medical School, Boston, MA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.psym.2017.10.009DOI Listing
March 2019

Noncardiac genetic predisposition in sudden infant death syndrome.

Genet Med 2019 03 24;21(3):641-649. Epub 2018 Aug 24.

Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0131-4
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0131-4DOI Listing
March 2019

Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2.

JCI Insight 2019 Mar 5;5. Epub 2019 Mar 5.

Department of Medicine, Division of Cardiovascular Medicine, and Cardiovascular Research Center, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/jci.insight.126544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483635PMC
March 2019

Shared Decision Making for Athletes with Cardiovascular Disease: Practical Considerations.

Curr Sports Med Rep 2019 Mar;18(3):76-81

Cardiology/Internal Medicine, Yale School of Medicine, New Haven, CT.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1249/JSR.0000000000000575DOI Listing
March 2019

Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in rare variant adjudication.

HeartRhythm Case Rep 2019 Mar 11;5(3):163-168. Epub 2018 Dec 11.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrcr.2018.11.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404365PMC
March 2019

QT prolongation and sudden cardiac death risk in hypertrophic cardiomyopathy.

Acta Cardiol 2019 Feb 7;74(1):53-58. Epub 2018 Mar 7.

c Division of Cardiovascular Diseases , Mayo Clinic , Scottsdale , AZ , USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/00015385.2018.1440905DOI Listing
February 2019

Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.

Heart Rhythm 2019 Feb 28;16(2):220-228. Epub 2018 Aug 28.

AMC Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands; Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2018.08.025DOI Listing
February 2019

A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.

Heart Rhythm 2019 Feb 29;16(2):270-278. Epub 2018 Aug 29.

Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota; Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota; Division of Pediatric Cardiology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2018.08.030DOI Listing
February 2019

International Triadin Knockout Syndrome Registry.

Circ Genom Precis Med 2019 Feb;12(2):e002419

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, and Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN (D.J.C., D.J.T., J.R.G., J.M.B., R.K.R., M.J.A.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.118.002419DOI Listing
February 2019

Prevalence and clinical phenotype of concomitant long QT syndrome and arrhythmogenic bileaflet mitral valve prolapse.

Int J Cardiol 2019 Jan 11;274:175-178. Epub 2018 Sep 11.

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, United States of America. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2018.09.046DOI Listing
January 2019

Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry Disease.

Mayo Clin Proc 2019 01;94(1):84-88

Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN; Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00256196183061
Publisher Site
http://dx.doi.org/10.1016/j.mayocp.2018.08.009DOI Listing
January 2019

Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young.

JACC Clin Electrophysiol 2019 Jan 1;5(1):120-127. Epub 2018 Nov 1.

Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacep.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394846PMC
January 2019

Implantable cardioverter-defibrillator use in catecholaminergic polymorphic ventricular tachycardia: A systematic review.

Heart Rhythm 2018 12 3;15(12):1791-1799. Epub 2018 Jul 3.

BC Children's Hospital, Division of Cardiology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2018.06.046DOI Listing
December 2018

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.

J Pediatr 2018 12 26;203:423-428.e11. Epub 2018 Sep 26.

Department of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2018.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394853PMC
December 2018

Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum.

Int J Cardiol 2018 Nov 30;270:214-220. Epub 2018 May 30.

Department of Cardiovascular Medicine (Division of Heart Rhythm Services), Mayo Clinic, Rochester, MN, United States; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, MN, United States; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2018.05.100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364980PMC
November 2018

An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis.

Eur Heart J 2018 11;39(44):3932-3944

The Labatt Family Heart Centre (Department of Pediatrics) and Translational Medicine, The Hospital for Sick Children & Research Institute and the University of Toronto, Room 1725D, 555 University Avenue, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/eurheartj/ehy567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247665PMC
November 2018

The genetic architecture of long QT syndrome: A critical reappraisal.

Trends Cardiovasc Med 2018 10 30;28(7):453-464. Epub 2018 Mar 30.

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tcm.2018.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590899PMC
October 2018

Wearable cardioverter defibrillators for patients with long QT syndrome.

Int J Cardiol 2018 Oct;268:132-136

Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA; Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA; Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Mayo Clinic, Rochester, MN, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01675273183126
Publisher Site
http://dx.doi.org/10.1016/j.ijcard.2018.04.002DOI Listing
October 2018

2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death.

Circulation 2018 09;138(13):e272-e391

Writing committee members are required to recuse themselves from voting on sections to which their specific relationships with industry may apply; see Appendix 1 for detailed information. †ACC/AHA Representative. ‡HRS Representative. §ACC/AHA Task Force on Performance Measures Liaison/HFSA Representative. ‖ACC/AHA Task Force on Clinical Practice Guidelines Liaison.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIR.0000000000000549DOI Listing
September 2018

2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: Executive Summary.

Circulation 2018 09;138(13):e210-e271

Writing committee members are required to recuse themselves from voting on sections to which their specific relationships with industry may apply; see Appendix 1 for detailed information. Section numbers pertain to those in the full-text guideline. †ACC/AHA Representative. ‡HRS Representative. §ACC/AHA Task Force on Performance Measures Liaison/HFSA Representative. ‖ACC/AHA Task Force on Clinical Practice Guidelines Liaison.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIR.0000000000000548DOI Listing
September 2018

Beyond the length and look of repolarization: Defining the non-QTc electrocardiographic profiles of patients with congenital long QT syndrome.

Heart Rhythm 2018 09 30;15(9):1413-1419. Epub 2018 Apr 30.

Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2018.04.033DOI Listing
September 2018

Clinical Significance of Early Repolarization in Long QT Syndrome.

JACC Clin Electrophysiol 2018 09 29;4(9):1238-1244. Epub 2018 Aug 29.

Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacep.2018.06.007DOI Listing
September 2018

Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.

Heart Rhythm 2018 08 3;15(8):1223-1230. Epub 2018 Apr 3.

Departments of Cardiovascular Medicine, Division of Heart Rhythm Services, Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, and Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2018.03.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402333PMC
August 2018

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.

Circulation 2018 06;137(25):2705-2715

Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (G.W.S., D.J.T., J.P.A., M.J.A.)

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.117.031053DOI Listing
June 2018

Idiopathic Restrictive Cardiomyopathy in Children and Young Adults.

Am J Cardiol 2018 05 12;121(10):1266-1270. Epub 2018 Feb 12.

Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Diseases/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.amjcard.2018.01.045DOI Listing
May 2018

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the -Encoded Kv11.1 Channel.

Circ Arrhythm Electrophysiol 2018 05;11(5):e005859

Department of Physiology, Cardiovascular Research Center, Center for Muscle Biology, University of Kentucky, Lexington (J.L.S., A.R.H., D.E.B., B.P.D.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCEP.117.005859DOI Listing
May 2018

Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased Na1.5 current and mechanosensitivity.

Am J Physiol Gastrointest Liver Physiol 2018 04 22;314(4):G494-G503. Epub 2017 Nov 22.

Enteric NeuroScience Program, Division of Gastroenterology and Hepatology, Department of Physiology and Biomedical Engineering, Mayo Clinic , Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/ajpgi.00016.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966747PMC
April 2018

Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Heart Rhythm 2018 04 2;15(4):555-561. Epub 2017 Dec 2.

Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Mayo Clinic School of Medicine, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Diseases, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota; Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2017.11.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383800PMC
April 2018

Left Ventricular Isovolumetric Relaxation Time Is Prolonged in Fetal Long-QT Syndrome.

Circ Arrhythm Electrophysiol 2018 04;11(4):e005797

Departments of Pediatric Cardiology, Obstetrics and Gynecology, and Cardiology, Academic Medical Center, Amsterdam, The Netherlands (S.-A.B.C., A.S.V., P.G.R.d.M., A.A.W., N.A.B.). Department of Pediatric Cardiology, University of Utah & Primary Children's Hospital, Salt Lake City (S.P.E.). Department of Clinical Sciences, Pediatrics, Umeå University, Sweden (A.R.). Department of Cardiology, Mayo Clinic, Rochester, MN (M.J.A.). Department of Pediatrics, Medical College of Wisconsin, Milwaukee (D.W.B.). Department of Pediatric Cardiology, University of Bonn, Germany (U.H.). Pediatric Cardiology, Children's National Medical Center, Washington, DC (M.T.D.). The Heart Institute, Department of Pediatrics, Children's Hospital Colorado, Denver (B.F.C.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCEP.117.005797DOI Listing
April 2018

Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.

JACC Clin Electrophysiol 2018 04 6;4(4):459-466. Epub 2017 Nov 6.

Department of Pediatrics, Division of Pediatric Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacep.2017.08.007DOI Listing
April 2018

Platelet Function Analyzer 100 and Brain Natriuretic Peptide as Biomarkers in Obstructive Hypertrophic Cardiomyopathy.

Am J Cardiol 2018 03 25;121(6):768-774. Epub 2017 Dec 25.

Division of Laboratory Medicine and Pathology, Mayo Clinic Florida, Jacksonville, Florida.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.amjcard.2017.12.009DOI Listing
March 2018

Left Axis Deviation in Children Without Previously Known Heart Disease.

Pediatrics 2018 03 1;141(3). Epub 2018 Feb 1.

Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2017-1970DOI Listing
March 2018

Return-to-Play for Athletes With Genetic Heart Diseases.

Circulation 2018 03;137(10):1086-1088

Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology (J.M.B., R.K.R., M.J.A.)

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.117.031306DOI Listing
March 2018

Localization and functional consequences of a direct interaction between TRIOBP-1 and hERG proteins in the heart.

J Cell Sci 2018 03 22;131(6). Epub 2018 Mar 22.

Department of Neuroscience, Wisconsin Institutes for Medical Research, University of Wisconsin-Madison SMPH, 1111 Highland Ave. #5505, Madison, WI 53705, USA

View Article

Download full-text PDF

Source
http://jcs.biologists.org/lookup/doi/10.1242/jcs.206730
Publisher Site
http://dx.doi.org/10.1242/jcs.206730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897710PMC
March 2018

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

J Am Coll Cardiol 2018 03;71(11):1217-1227

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2018.01.030DOI Listing
March 2018

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Circulation 2018 02;137(6):619-630

Departments of Cardiovascular Diseases, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Divisions of Heart Rhythm Services and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (M.J.A.)

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.117.030142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383807PMC
February 2018

Yield of the Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.

Circ Genom Precis Med 2018 02;11(2):e001424

From the Mayo Clinic School of Medicine (J.D.K., M.J.A.), Medical Scientist Training Program (J.D.K., M.J.A.), Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (J.D.K., D.J.T., M.J.A.), Division of Biomedical Statistics and Informatics, Department of Health Sciences Research (N.B.L.), Division of Heart Rhythm Services, Department of Cardiovascular Diseases (D.J.T., M.J.A.), and Division of Pediatric Cardiology, Department of Pediatrics (M.J.A.), Mayo Clinic, Rochester, MN; Department of Medicine, Stanford University, Stanford, CA (K.N.P.); Transgenomic Inc, New Haven, CT (T.E.C.); and Department of Clinical Genetics (H.B.) and Heart Centre, Department of Clinical and Experimental Cardiology (A.A.M.W.), Academic Medical Center, University of Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.116.001424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364978PMC
February 2018

Even pore-localizing missense variants at highly conserved sites in -encoded K7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.

HeartRhythm Case Rep 2018 Feb 11;4(2):37-44. Epub 2017 Dec 11.

Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrcr.2017.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988472PMC
February 2018

Prevalence and Outcome of High-Risk QT Prolongation Recorded in the Emergency Department from an Institution-Wide QT Alert System.

J Emerg Med 2018 Jan 26;54(1):8-15. Epub 2017 Oct 26.

Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Diseases, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jemermed.2017.08.073DOI Listing
January 2018

Effect of Body Mass Index on Exercise Capacity in Patients With Hypertrophic Cardiomyopathy.

Am J Cardiol 2018 Jan 12;121(1):100-106. Epub 2017 Oct 12.

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.amjcard.2017.09.026DOI Listing
January 2018

Sudden infant death syndrome and inherited cardiac conditions.

Nat Rev Cardiol 2017 Dec 7;14(12):715-726. Epub 2017 Sep 7.

Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Institute, St George's University of London, Cranmer Terrace, London SW17 0RE, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrcardio.2017.129DOI Listing
December 2017

Channelopathies as Causes of Sudden Cardiac Death.

Card Electrophysiol Clin 2017 12;9(4):537-549

Heart Center, Academic Medical Center, University of Amsterdam, PO-Box 22700, 1100DE, Amsterdam, The Netherlands; Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ccep.2017.07.005DOI Listing
December 2017

Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death: Verification of Next-Generation Sequencing Panels for Hereditary Cardiovascular Conditions Using Formalin-Fixed Paraffin-Embedded Tissues and Dried Blood Spots.

Circ Cardiovasc Genet 2017 Dec;10(6)

From the Department of Laboratory Medicine and Pathology (L.M.B., C.L., L.J.T., R.A., M.L.K., K.E.K., P.T.L., J.J.M.), Department of Cardiovascular Diseases (M.J.A., J.J.M.), Division of Pediatric Cardiology, Department of Pediatrics (M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (M.J.A.), Mayo Clinic, Rochester, MN.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.117.001844DOI Listing
December 2017

Architectural T-Wave Analysis and Identification of On-Therapy Breakthrough Arrhythmic Risk in Type 1 and Type 2 Long-QT Syndrome.

Circ Arrhythm Electrophysiol 2017 Nov;10(11)

From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN; Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.); and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCEP.117.005648DOI Listing
November 2017

Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death.

Prenat Diagn 2017 Oct 12;37(10):1040-1045. Epub 2017 Sep 12.

Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5142DOI Listing
October 2017

Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing-Based Molecular Autopsies.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Molecular Pharmacology and Experimental Therapeutics (G.W.S., D.J.T., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory (G.W.S., D.J.T., M.J.A.), Mayo Clinic Graduate School of Biomedical Sciences (G.W.S., D.J.T., M.J.A.), Division of Heart Rhythm Services, Department of Cardiovascular Diseases (D.J.T., M.J.A.), Department of Biomedical Statistics and Informatics (S.N., J.M.E.), and Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (M.J.A.), Mayo Clinic, Rochester, MN.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.117.001828DOI Listing
October 2017

Competitive Sport Participation Among Athletes With Heart Disease: A Call for a Paradigm Shift in Decision Making.

Circulation 2017 10;136(17):1569-1571

From Cardiovascular Performance Program, Massachusetts General Hospital, Boston (A.L.B.); Division of Heart Rhythm Services, Department of Cardiovascular Diseases, and Division of Pediatric Cardiology, Department of Pediatrics, and Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN (M.J.A.); and Cardiology/Internal Medicine, Yale School of Medicine, New Haven, CT (R.L.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.117.029639DOI Listing
October 2017

Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification.

HeartRhythm Case Rep 2017 Oct 12;3(10):450-454. Epub 2017 Aug 12.

Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrcr.2017.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643853PMC
October 2017

Providers' Response to Clinical Decision Support for QT Prolonging Drugs.

J Med Syst 2017 Sep 2;41(10):161. Epub 2017 Sep 2.

Department of Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10916-017-0803-7DOI Listing
September 2017

Contemporary Outcomes in Patients With Long QT Syndrome.

J Am Coll Cardiol 2017 Jul;70(4):453-462

Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Diseases/Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2017.05.046DOI Listing
July 2017