Publications by authors named "Michael J Ackerman"

100Publications

Promise and Potential Peril with Lumacaftor for the Trafficking Defective Type 2 Long QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes.

Circ Genom Precis Med 2020 Sep 17. Epub 2020 Sep 17.

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

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http://dx.doi.org/10.1161/CIRCGEN.120.002950DOI Listing
September 2020

Clinical Utility of a Phenotype Enhanced -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.

Circ Genom Precis Med 2020 Sep 7. Epub 2020 Sep 7.

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

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http://dx.doi.org/10.1161/CIRCGEN.120.003039DOI Listing
September 2020

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Authors:
Roddy Walsh Najim Lahrouchi Rafik Tadros Florence Kyndt Charlotte Glinge Pieter G Postema Ahmad S Amin Eline A Nannenberg James S Ware Nicola Whiffin Francesco Mazzarotto Doris Škorić-Milosavljević Christian Krijger Elena Arbelo Dominique Babuty Hector Barajas-Martinez Britt M Beckmann Stéphane Bézieau J Martijn Bos Jeroen Breckpot Oscar Campuzano Silvia Castelletti Candan Celen Sebastian Clauss Anniek Corveleyn Lia Crotti Federica Dagradi Carlo de Asmundis Isabelle Denjoy Sven Dittmann Patrick T Ellinor Cristina Gil Ortuño Carla Giustetto Jean-Baptiste Gourraud Daisuke Hazeki Minoru Horie Taisuke Ishikawa Hideki Itoh Yoshiaki Kaneko Jørgen K Kanters Hiroki Kimoto Maria-Christina Kotta Ingrid P C Krapels Masahiko Kurabayashi Julieta Lazarte Antoine Leenhardt Bart L Loeys Catarina Lundin Takeru Makiyama Jacques Mansourati Raphaël P Martins Andrea Mazzanti Stellan Mörner Carlo Napolitano Kimie Ohkubo Michael Papadakis Boris Rudic Maria Sabater Molina Frédéric Sacher Hatice Sahin Georgia Sarquella-Brugada Regina Sebastiano Sanjay Sharma Mary N Sheppard Keiko Shimamoto M Benjamin Shoemaker Birgit Stallmeyer Johannes Steinfurt Yuji Tanaka David J Tester Keisuke Usuda Paul A van der Zwaag Sonia Van Dooren Lut Van Laer Annika Winbo Bo G Winkel Kenichiro Yamagata Sven Zumhagen Paul G A Volders Steven A Lubitz Charles Antzelevitch Pyotr G Platonov Katja E Odening Dan M Roden Jason D Roberts Jonathan R Skinner Jacob Tfelt-Hansen Maarten P van den Berg Morten S Olesen Pier D Lambiase Martin Borggrefe Kenshi Hayashi Annika Rydberg Tadashi Nakajima Masao Yoshinaga Johan B Saenen Stefan Kääb Pedro Brugada Tomas Robyns Daniela F Giachino Michael J Ackerman Ramon Brugada Josep Brugada Juan R Gimeno Can Hasdemir Pascale Guicheney Silvia G Priori Eric Schulze-Bahr Naomasa Makita Peter J Schwartz Wataru Shimizu Takeshi Aiba Jean-Jacques Schott Richard Redon Seiko Ohno Vincent Probst Elijah R Behr Julien Barc Connie R Bezzina

Genet Med 2020 Sep 7. Epub 2020 Sep 7.

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1038/s41436-020-00946-5DOI Listing
September 2020

The Surgeon's View of the Left Ventricular Outflow Tract in Congenital Heart Surgery.

World J Pediatr Congenit Heart Surg 2020 09;11(5):595-610

Department of Cardiovascular Surgery, 4352Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1177/2150135120936632DOI Listing
September 2020

Inherited cardiac arrhythmias.

Nat Rev Dis Primers 2020 07 16;6(1):58. Epub 2020 Jul 16.

European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-HEART), Bruxelles, Belgium.

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http://dx.doi.org/10.1038/s41572-020-0188-7DOI Listing
July 2020

Molecular characterization of the calcium release channel deficiency syndrome.

JCI Insight 2020 Aug 6;5(15). Epub 2020 Aug 6.

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

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http://dx.doi.org/10.1172/jci.insight.135952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455073PMC
August 2020

An autoantibody profile detects Brugada syndrome and identifies abnormally expressed myocardial proteins.

Eur Heart J 2020 Aug;41(30):2878-2890

Department of Pediatrics, The Labatt Family Heart Centre and Translational Medicine, The Hospital for Sick Children & Research Institute and the University of Toronto, Room 1725D, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

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http://dx.doi.org/10.1093/eurheartj/ehaa383DOI Listing
August 2020

Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry.

Circ Genom Precis Med 2020 Aug 3;13(4):e002797. Epub 2020 Jun 3.

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

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http://dx.doi.org/10.1161/CIRCGEN.119.002797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439932PMC
August 2020

Corrected QT Interval-Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members.

Circ Genom Precis Med 2020 Aug 29;13(4):e002922. Epub 2020 May 29.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology & Experimental Therapeutics (K.L.T., S.M.D., D.J.T., J.M.B., M.J.A.), Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1161/CIRCGEN.120.002922DOI Listing
August 2020

Purkinje system hyperexcitability and ventricular arrhythmia risk in type 3 long QT syndrome.

Heart Rhythm 2020 May 23. Epub 2020 May 23.

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

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http://dx.doi.org/10.1016/j.hrthm.2020.05.019DOI Listing
May 2020

Marked Up-Regulation of ACE2 in Hearts of Patients With Obstructive Hypertrophic Cardiomyopathy: Implications for SARS-CoV-2-Mediated COVID-19.

Mayo Clin Proc 2020 07 28;95(7):1354-1368. Epub 2020 Apr 28.

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

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http://dx.doi.org/10.1016/j.mayocp.2020.04.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7186205PMC
July 2020

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.

Authors:
Najim Lahrouchi Rafik Tadros Lia Crotti Yuka Mizusawa Pieter G Postema Leander Beekman Roddy Walsh Kanae Hasegawa Julien Barc Marko Ernsting Kari L Turkowski Andrea Mazzanti Britt M Beckmann Keiko Shimamoto Ulla-Britt Diamant Yanushi D Wijeyeratne Yu Kucho Tomas Robyns Taisuke Ishikawa Elena Arbelo Michael Christiansen Annika Winbo Reza Jabbari Steven A Lubitz Johannes Steinfurt Boris Rudic Bart Loeys M Ben Shoemaker Peter E Weeke Ryan Pfeiffer Brianna Davies Antoine Andorin Nynke Hofman Federica Dagradi Matteo Pedrazzini David J Tester J Martijn Bos Georgia Sarquella-Brugada Óscar Campuzano Pyotr G Platonov Birgit Stallmeyer Sven Zumhagen Eline A Nannenberg Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Christopher E Shaw Pamela J Shaw Karen E Morrison Peter M Andersen Martina Müller-Nurasyid Daniele Cusi Cristina Barlassina Pilar Galan Mark Lathrop Markus Munter Thomas Werge Marta Ribasés Tin Aung Chiea C Khor Mineo Ozaki Peter Lichtner Thomas Meitinger J Peter van Tintelen Yvonne Hoedemaekers Isabelle Denjoy Antoine Leenhardt Carlo Napolitano Wataru Shimizu Jean-Jacques Schott Jean-Baptiste Gourraud Takeru Makiyama Seiko Ohno Hideki Itoh Andrew D Krahn Charles Antzelevitch Dan M Roden Johan Saenen Martin Borggrefe Katja E Odening Patrick T Ellinor Jacob Tfelt-Hansen Jonathan R Skinner Maarten P van den Berg Morten Salling Olesen Josep Brugada Ramón Brugada Naomasa Makita Jeroen Breckpot Masao Yoshinaga Elijah R Behr Annika Rydberg Takeshi Aiba Stefan Kääb Silvia G Priori Pascale Guicheney Hanno L Tan Christopher Newton-Cheh Michael J Ackerman Peter J Schwartz Eric Schulze-Bahr Vincent Probst Minoru Horie Arthur A Wilde Michael W T Tanck Connie R Bezzina

Circulation 2020 Jul 20;142(4):324-338. Epub 2020 May 20.

Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (N.L., R.T., Y.M., P.G.P., L.B., R.W., N.H., H.L.T., A.A.W., C.R.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.045956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382531PMC
July 2020

Phenotype-guided whole genome analysis in a patient with genetically elusive long QT syndrome yields a novel TRDN-encoded triadin pathogenetic substrate for triadin knockout syndrome and reveals a novel primate-specific cardiac TRDN transcript.

Heart Rhythm 2020 Jun 9;17(6):1017-1024. Epub 2020 May 9.

Windland Smith Rice Sudden Death Genomics Laboratory, 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 Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2020.01.012DOI Listing
June 2020

Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve.

Int J Cardiol 2020 May 6. Epub 2020 May 6.

Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA; Department of Cardiovascular Medicine/Division of Heart Rhythm Services, Mayo Clinic, Rochester, MN 55905, USA; Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2020.05.014DOI Listing
May 2020

Genetic susceptibility for COVID-19-associated sudden cardiac death in African Americans.

Heart Rhythm 2020 09 5;17(9):1487-1492. Epub 2020 May 5.

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

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http://dx.doi.org/10.1016/j.hrthm.2020.04.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198426PMC
September 2020

Abnormalities in sodium current and calcium homoeostasis as drivers of arrhythmogenesis in hypertrophic cardiomyopathy.

Cardiovasc Res 2020 Jul;116(9):1585-1599

Department of Neurosciences, Psychiatry, Drug Research and Child Health (NeuroFarBa), University of Florence, Florence, Italy.

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http://dx.doi.org/10.1093/cvr/cvaa124DOI Listing
July 2020

Urgent Guidance for Navigating and Circumventing the QTc-Prolonging and Torsadogenic Potential of Possible Pharmacotherapies for Coronavirus Disease 19 (COVID-19).

Mayo Clin Proc 2020 06 7;95(6):1213-1221. Epub 2020 Apr 7.

Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Mayo Clinic, Rochester, MN; Department of Pediatric and Adolescent Medicine, 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. Electronic address:

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http://dx.doi.org/10.1016/j.mayocp.2020.03.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141471PMC
June 2020

Time to Redefine the Natural History and Clinical Management of Type 1 Andersen-Tawil Syndrome?

J Am Coll Cardiol 2020 Apr;75(15):1785-1787

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

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http://dx.doi.org/10.1016/j.jacc.2020.03.005DOI Listing
April 2020

Left cardiac sympathetic denervation reduces skin sympathetic nerve activity in patients with long QT syndrome.

Heart Rhythm 2020 Apr 8. Epub 2020 Apr 8.

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

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http://dx.doi.org/10.1016/j.hrthm.2020.03.023DOI Listing
April 2020

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.

Circ Genom Precis Med 2020 04 13;13(2):e002731. Epub 2020 Mar 13.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics (D.J.C., D.J.T., S.M.D., M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.119.002731DOI Listing
April 2020

Established Loss-of-Function Variants in -Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans.

Circ Genom Precis Med 2020 04 12;13(2):e002851. Epub 2020 Mar 12.

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

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http://dx.doi.org/10.1161/CIRCGEN.119.002851DOI Listing
April 2020

Intentional nontherapy in long QT syndrome.

Heart Rhythm 2020 Jul 24;17(7):1147-1150. Epub 2020 Feb 24.

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

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http://dx.doi.org/10.1016/j.hrthm.2020.02.017DOI Listing
July 2020

Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors.

Europace 2020 Apr;22(4):622-631

Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1093/europace/euz337DOI Listing
April 2020

Cardiac Magnetic Resonance Imaging Features in Hypertrophic Cardiomyopathy Diagnosed at <21 Years of Age.

Am J Cardiol 2020 04 28;125(8):1249-1255. Epub 2020 Jan 28.

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

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http://dx.doi.org/10.1016/j.amjcard.2020.01.027DOI Listing
April 2020

Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome-Susceptibility Gene-Disease Associations.

Circulation 2020 02 10;141(6):495-497. Epub 2020 Feb 10.

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

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.043131DOI Listing
February 2020

Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.

Heart Rhythm 2020 Jun 10;17(6):937-944. Epub 2020 Feb 10.

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:

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http://dx.doi.org/10.1016/j.hrthm.2020.02.003DOI Listing
June 2020

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Circulation 2020 02 16;141(6):429-439. Epub 2020 Jan 16.

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

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.043114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035205PMC
February 2020

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

Circ Genom Precis Med 2019 11 22;12(11):e002648. Epub 2019 Oct 22.

Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (E.M.H., J.M.B., S.M.D., C.J.K., M.J.A.), Mayo Clinic, Rochester, MN.

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

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

JACC Clin Electrophysiol 2019 09;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:

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

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

Circ Arrhythm Electrophysiol 2019 09 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.

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http://dx.doi.org/10.1161/CIRCEP.118.007118DOI Listing
September 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 2020 Feb 5;17(2):315-323. 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:

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https://linkinghub.elsevier.com/retrieve/pii/S15475271193073
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http://dx.doi.org/10.1016/j.hrthm.2019.08.014DOI Listing
February 2020

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 08 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.).

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

Evaluation After Sudden Death in the Young: A Global Approach.

Circ Arrhythm Electrophysiol 2019 08 19;12(8):e007453. Epub 2019 Aug 19.

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

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

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

J Am Coll Cardiol 2019 08;74(6):771-773

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

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

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

Mayo Clin Proc 2019 08;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.

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

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

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

J Am Coll Cardiol 2019 07;74(3):359-361

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

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

The QT Interval.

Circulation 2019 06 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.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.039598DOI Listing
June 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 05;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.).

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

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

Circ Arrhythm Electrophysiol 2019 05;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.

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

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

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

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

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

JCI Insight 2019 03 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.

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

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 10 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.

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

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

Heart Rhythm 2019 08 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:

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http://dx.doi.org/10.1016/j.hrthm.2019.02.012DOI Listing
August 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 01 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:

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

International Triadin Knockout Syndrome Registry.

Circ Genom Precis Med 2019 02;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.).

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

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

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:

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

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

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

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:

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http://dx.doi.org/10.1016/j.ijcard.2018.09.046DOI Listing
January 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 02 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:

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

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

Heart Rhythm 2019 02 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:

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

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

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:

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

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:

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

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

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

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

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

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

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