Publications by authors named "Lia Crotti"

100Publications

Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative Variants Detected in a Multi-Center Molecular Autopsy Cohort of Sudden Unexplained Death Victims.

Circ Genom Precis Med 2020 Nov 15. Epub 2020 Nov 15.

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

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http://dx.doi.org/10.1161/CIRCGEN.120.003032DOI Listing
November 2020

Exercise Training-Induced Repolarization Abnormalities Masquerading as Congenital Long QT Syndrome.

Circulation 2020 Oct 19. Epub 2020 Oct 19.

Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin, Milan, Italy; Istituto Auxologico Italiano, IRCCS, Laboratory of Cardiovascular Genetics, Cusano Milanino (MI), Italy.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.048916DOI Listing
October 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

COVID-19 pandemia and inherited cardiomyopathies and channelopathies: a short term and long term perspective.

Orphanet J Rare Dis 2020 06 22;15(1):157. Epub 2020 Jun 22.

European Reference Network for Rare and Complex Diseases of the Heart.

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http://dx.doi.org/10.1186/s13023-020-01444-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7307806PMC
June 2020

Invasive Hemodynamics of Hypertrophic Cardiomyopathy: Exercise Versus Isoproterenol.

Circ Heart Fail 2020 06 2;13(6):e007000. Epub 2020 Jun 2.

Istituto Auxologico Italiano, IRCCS, Ospedale San Luca, Milano, Italy (S.C., C.B., G.B.P., F.C., L.C., G.P.).

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http://dx.doi.org/10.1161/CIRCHEARTFAILURE.120.007000DOI Listing
June 2020

COVID-19 treatments, QT interval, and arrhythmic risk: The need for an international registry on arrhythmias.

Heart Rhythm 2020 09 26;17(9):1423-1424. Epub 2020 May 26.

Arrhythmia Section, Cardiology Department, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; Institut d'Investigació August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.

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http://dx.doi.org/10.1016/j.hrthm.2020.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248630PMC
September 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

Adenosine and the Cardiovascular System: The Good and the Bad.

J Clin Med 2020 May 6;9(5). Epub 2020 May 6.

Department of Medicine and Surgery, University of Milano Bicocca, 20122 Milan, Italy.

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http://dx.doi.org/10.3390/jcm9051366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290927PMC
May 2020

Sudden Cardiac Death in Children Affected by Cardiomyopathies: An Update on Risk Factors and Indications at Transvenous or Subcutaneous Implantable Defibrillators.

Front Pediatr 2020 3;8:139. Epub 2020 Apr 3.

Istituto Auxologico Italiano, IRCCS, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Milan, Italy.

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http://dx.doi.org/10.3389/fped.2020.00139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146705PMC
April 2020

Heritable arrhythmias associated with abnormal function of cardiac potassium channels.

Cardiovasc Res 2020 Jul;116(9):1542-1556

Department of Internal Medicine, Nora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1093/cvr/cvaa068DOI Listing
July 2020

NOS1AP polymorphisms reduce NOS1 activity and interact with prolonged repolarization in arrhythmogenesis.

Cardiovasc Res 2020 Feb 15. Epub 2020 Feb 15.

Department of Biotechnology and Bioscience, University of Milano-Bicocca, Milano (IT).

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http://dx.doi.org/10.1093/cvr/cvaa036DOI Listing
February 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

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1.

Stem Cell Res 2020 01 20;42:101658. Epub 2019 Nov 20.

Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101658DOI Listing
January 2020

To be, or not to be engaged in sport activities, that is the amletic question for patients with coronary artery disease.

Eur J Prev Cardiol 2020 May 4;27(7):767-769. Epub 2019 Oct 4.

IRCCS Istitito Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin, Milan, Italy.

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http://dx.doi.org/10.1177/2047487319877701DOI Listing
May 2020

Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population.

Stem Cell Res 2019 08 24;39:101510. Epub 2019 Jul 24.

Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101510DOI Listing
August 2019

Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy.

Int J Cardiol 2020 02 17;300:191-195. Epub 2019 Jul 17.

Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy; IRCCS, Istituto Auxologico Italiano, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Milan, Italy.

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http://dx.doi.org/10.1016/j.ijcard.2019.07.051DOI Listing
February 2020

When prescribing drugs, do medical doctors and healthcare professionals realize that their patient has the long QT syndrome?

Eur Heart J 2019 10;40(37):3118-3120

Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, 22 Via Pier Lombardo, Milan, Italy.

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http://dx.doi.org/10.1093/eurheartj/ehz355DOI Listing
October 2019

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation.

Stem Cell Res 2019 05 13;37:101437. Epub 2019 Apr 13.

Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061193006
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http://dx.doi.org/10.1016/j.scr.2019.101437DOI 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

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation.

Stem Cell Res 2019 05 27;37:101431. Epub 2019 Mar 27.

Coronary Care Unit, Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, Università degli Studi di Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061193006
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http://dx.doi.org/10.1016/j.scr.2019.101431DOI Listing
May 2019

Neuroimmune crosstalk in the pathophysiology of hypertension.

Nat Rev Cardiol 2019 08;16(8):476-490

Istituto Auxologico Italiano, IRCCS, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Milan, Italy.

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http://dx.doi.org/10.1038/s41569-019-0178-1DOI Listing
August 2019

Partial Pericardial Agenesis Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy.

Clin J Sport Med 2020 Sep;30(5):e159-e162

Department of Cardiovascular, Neural and Metabolic Sciences, Istituto Auxologico Italiano, IRCCS, San Luca Hospital, Milan, Italy.

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http://dx.doi.org/10.1097/JSM.0000000000000733DOI Listing
September 2020

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene.

Stem Cell Res 2019 04 6;36:101416. Epub 2019 Mar 6.

Coronary Care Unit and Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.; Department of Molecular Medicine, Unit of Cardiology, Università degli studi di Pavia, Pavia, Italy.; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101416DOI Listing
April 2019

From patient-specific induced pluripotent stem cells to clinical translation in long QT syndrome Type 2.

Eur Heart J 2019 06;40(23):1832-1836

Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin, Via Pier Lombardo 22, Milan, Italy.

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http://dx.doi.org/10.1093/eurheartj/ehz023DOI Listing
June 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

Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young.

Front Cardiovasc Med 2018 6;5:175. Epub 2018 Dec 6.

Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy.

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http://dx.doi.org/10.3389/fcvm.2018.00175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291462PMC
December 2018

Modifier genes for sudden cardiac death.

Eur Heart J 2018 11;39(44):3925-3931

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Searle 8-510, East Superior Street, Chicago, IL, USA.

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http://dx.doi.org/10.1093/eurheartj/ehy502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247660PMC
November 2018

Pulmonary hypertension due to a stiff left atrium: Speckle tracking equivalents of large V-waves.

Echocardiography 2018 09 5;35(9):1464-1466. Epub 2018 Aug 5.

Department of Cardiovascular, Neural and Metabolic Sciences, Ospedale San Luca IRCCS Istituto Auxologico Italiano, Milano, Italy.

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http://doi.wiley.com/10.1111/echo.14117
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http://dx.doi.org/10.1111/echo.14117DOI Listing
September 2018

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1.

Stem Cell Res 2018 05 6;29:170-173. Epub 2018 Apr 6.

Coronary Care Unit, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.; Laboratory of Experimental Cardiology for Cell and Molecular Therapy, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.; Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Pavia, Italy.; Department of Medicine, University of Cape Town, Cape Town, South Africa.. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.04.003DOI Listing
May 2018

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.

Stem Cell Res 2018 05 7;29:157-161. Epub 2018 Apr 7.

Coronary Care Unit, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Laboratory of Experimental Cardiology for Cell and Molecular Therapy, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.04.002DOI Listing
May 2018

Common presentation of rare cardiac diseases: Arrhythmias.

Int J Cardiol 2018 04;257:351-357

IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Medicine and Surgery, University of Milan Bicocca, Italy.

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http://dx.doi.org/10.1016/j.ijcard.2018.01.004DOI Listing
April 2018

The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?

Int J Cardiol 2018 Jan 5;250:139-145. Epub 2017 Oct 5.

Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2017.10.016DOI Listing
January 2018

Founder populations with channelopathies and church records reveal all sorts of interesting secrets: Some are scientifically relevant.

Heart Rhythm 2017 12 14;14(12):1882-1883. Epub 2017 Sep 14.

Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; San Luca Hospital, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.

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http://dx.doi.org/10.1016/j.hrthm.2017.09.016DOI Listing
December 2017

The role of genetics in primary ventricular fibrillation, inherited channelopathies and cardiomyopathies.

Int J Cardiol 2017 Jun;237:45-48

IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; Department of Molecular Medicine, University of Pavia, Italy.

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http://dx.doi.org/10.1016/j.ijcard.2017.03.119DOI Listing
June 2017

The KCNH2-IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2.

Int J Cardiol 2017 Aug 12;240:367-371. Epub 2017 Apr 12.

Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Coronary Care Unit and Laboratory of Clinical and Experimental Cardiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2017.04.038DOI Listing
August 2017

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Circulation 2016 Sep 26;134(12):872-82. Epub 2016 Aug 26.

From AMC Heart Centre, Department of Clinical and Experimental Cardiology (A.A.M.W., C.R.B.) and Department of Clinical Genetics (N.H., M.A.), Academic Medical Center, Amsterdam, The Netherlands; Cardiology Division of the Department of Medicine (A.J.M., C.L., W.Z., I.G., J.L.R., M.L.A., S.M., B.P.), the Department of Biostatistics (D.R.P.), and the Department of Pathology (M.Q.), University of Rochester School of Medicine and Dentistry, Rochester, NY; Heart and Vascular Research Center, MetroHealth Campus of Case Western Reserve University, Cleveland, OH (E.S.K.); Department of Cardiovascular Medicine, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan (W.S.); Department of Cardiology Bikur Cholim Hospital, Jerusalem, Israel (J.B.); Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH (J.A.T.); IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (C.P. L.C., P.J.S.); Department of Cardiology, Gentofte University Hospital, Copenhagen, Denmark (J.K.K.); Departments of Medicine, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (D.J.T., M.J.A.); Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine (W.S.) and Department of Preventive Cardiology (Y.M.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Molecular Medicine, University of Pavia, Italy (L.C.); Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia (A.A.M.W.); and Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., P.J.S.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.021823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5030177PMC
September 2016

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

Circ Cardiovasc Genet 2016 Aug;9(4):330-9

From the Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano, Milan (L.C., C.S., P.J.S.); Department of Molecular Medicine (L.C.) and Department of Public Health (M.C.M., C.M.), Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia; Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., G.P.); Department of Medicine, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland (A.M.L., K.K.); Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany (E.M., P.L., T.M.); Department of Medicine and Surgery University of Milano-Bicocca, Milan, Italy (G.P.); Department of Internal Medicine, University of Stellenbosch, South Africa (M.H., A.G., P.A.B.); Institute of Human Genetics, Technische Universität München (T.M.); DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany (T.M.); and Heart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland (H.S.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001419DOI Listing
August 2016

Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.

Sci Rep 2016 Feb 26;6:22235. Epub 2016 Feb 26.

Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Old Groote Schuur Hospital, Groote Schuur Drive, Observatory, 7925, Cape Town, South Africa.

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http://dx.doi.org/10.1038/srep22235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4808831PMC
February 2016

Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation.

Circulation 2015 Jun 27;131(25):2185-93. Epub 2015 May 27.

From Department of Cardiology and Cardiovascular Clinical Research Center (G.M.D.F., V.D.) and Division of Vascular Surgery (A.O.), Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Italy (G.M.D.T., V.D., C.S., L.C.); Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, Milano, Italy (C.S., L.C., P.J.S.); Departments of Medicine, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (J.M.B., C.R.M., M.J.A.); Cardiac Arrhythmia Service, Department of Cardiology, Children's Hospital, Boston, MA (D.J.A.); Division of Cardiology, Children's National Heart Institute, George Washington University, Washington, DC (C.I.B.); Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany (L.C.); Department of Cardiology, The Royal Children's Hospital, Murdoch Children's Research Institute and Melbourne University, Melbourne, Australia (A.M.D.); Heart Institute, Leviev Heart Center, Sheba Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Hashomer, Israel (M.E.); Department of Clinical Cardiology and Molecular Genetics, National Center for Preventive Medicine, Ministry of Healthcare, Russian Federation, Moscow, Russia (M.K.); Bruce Rappaport Faculty of Medicine; Technion, Haifa, Israel (A.K.); Division of Cardiology, University of British Columbia, Vancouver, Canada (A.D.K.); AP-HP, Hôpital Bichat, Service de Cardiologie et Centre de Référence des Maladies Cardiaques Héréditaires, Paris, France (A.L.); Université Paris Diderot, Sorbonne Paris Cité, Paris, France (A.L.); Heart Centre AMC, Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands (L.O.N., A.A.M.W.); Department of Pediatric Cardiology and Intensive Care Medicine, University Hospital, Georg-August-University,

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http://circ.ahajournals.org/cgi/doi/10.1161/CIRCULATIONAHA.1
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http://dx.doi.org/10.1161/CIRCULATIONAHA.115.015731DOI Listing
June 2015

Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.

J Am Coll Cardiol 2015 Feb;65(4):367-374

Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.jacc.2014.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312415PMC
February 2015

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.

Circ Cardiovasc Genet 2014 Oct 2;7(5):599-606. Epub 2014 Aug 2.

From the Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Medical Research Council (MRC) Centre for Molecular and Cellular Biology, (C.P.d.V., L.v.d.M., J.C.M.-S., V.A.C.), and Department of Internal Medicine (A.G., P.A.B.), Stellenbosch University, Stellenbosch, South Africa; Department of Statistics, University of Western Cape, Bellville, South Africa (L.v.d.M.); IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., P.J.S.); Department of Molecular Medicine, University of Pavia, Pavia, Italy (L.C.); Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany (L.C.); and Departments of Medicine and Pharmacology, and Institute for Integrative Genomics, Vanderbilt University, Nashville, TN (A.L.G.).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270884PMC
October 2014

Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome.

Circ Res 2014 Aug 24;115(4):460-9. Epub 2014 Jun 24.

From the Center for Clinical and Translational Science (N.J.B.) and Mayo Graduate School (N.J.B.), Department Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (D.Y., D.J.T., J.R.G., M.J.A.), Department of Medicine (J.R.G.), Division of Cardiovascular Diseases (M.J.A.), and Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, MN; Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, MO (E.K.J., W.W., J.M.N.); Department of Molecular Medicine, University of Pavia, Pavia, Italy (L.C.); Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., F.D., M.T., P.J.S.); Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany (L.C.); and Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands (Y.M., M.A., A.A.M.W.).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907370PMC
August 2014

Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.

J Am Heart Assoc 2014 Jun 23;3(3):e000996. Epub 2014 Jun 23.

Department of Physiology, University of Kentucky College of Medicine, Lexington, KY (G.Y., F.H., A.R.H., J.S.).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309107PMC
June 2014

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Authors:
Dan E Arking Sara L Pulit Lia Crotti Pim van der Harst Patricia B Munroe Tamara T Koopmann Nona Sotoodehnia Elizabeth J Rossin Michael Morley Xinchen Wang Andrew D Johnson Alicia Lundby Daníel F Gudbjartsson Peter A Noseworthy Mark Eijgelsheim Yuki Bradford Kirill V Tarasov Marcus Dörr Martina Müller-Nurasyid Annukka M Lahtinen Ilja M Nolte Albert Vernon Smith Joshua C Bis Aaron Isaacs Stephen J Newhouse Daniel S Evans Wendy S Post Daryl Waggott Leo-Pekka Lyytikäinen Andrew A Hicks Lewin Eisele David Ellinghaus Caroline Hayward Pau Navarro Sheila Ulivi Toshiko Tanaka David J Tester Stéphanie Chatel Stefan Gustafsson Meena Kumari Richard W Morris Åsa T Naluai Sandosh Padmanabhan Alexander Kluttig Bernhard Strohmer Andrie G Panayiotou Maria Torres Michael Knoflach Jaroslav A Hubacek Kamil Slowikowski Soumya Raychaudhuri Runjun D Kumar Tamara B Harris Lenore J Launer Alan R Shuldiner Alvaro Alonso Joel S Bader Georg Ehret Hailiang Huang W H Linda Kao James B Strait Peter W Macfarlane Morris Brown Mark J Caulfield Nilesh J Samani Florian Kronenberg Johann Willeit J Gustav Smith Karin H Greiser Henriette Meyer Zu Schwabedissen Karl Werdan Massimo Carella Leopoldo Zelante Susan R Heckbert Bruce M Psaty Jerome I Rotter Ivana Kolcic Ozren Polašek Alan F Wright Maura Griffin Mark J Daly David O Arnar Hilma Hólm Unnur Thorsteinsdottir Joshua C Denny Dan M Roden Rebecca L Zuvich Valur Emilsson Andrew S Plump Martin G Larson Christopher J O'Donnell Xiaoyan Yin Marco Bobbo Adamo P D'Adamo Annamaria Iorio Gianfranco Sinagra Angel Carracedo Steven R Cummings Michael A Nalls Antti Jula Kimmo K Kontula Annukka Marjamaa Lasse Oikarinen Markus Perola Kimmo Porthan Raimund Erbel Per Hoffmann Karl-Heinz Jöckel Hagen Kälsch Markus M Nöthen Marcel den Hoed Ruth J F Loos Dag S Thelle Christian Gieger Thomas Meitinger Siegfried Perz Annette Peters Hanna Prucha Moritz F Sinner Melanie Waldenberger Rudolf A de Boer Lude Franke Pieter A van der Vleuten Britt Maria Beckmann Eimo Martens Abdennasser Bardai Nynke Hofman Arthur A M Wilde Elijah R Behr Chrysoula Dalageorgou John R Giudicessi Argelia Medeiros-Domingo Julien Barc Florence Kyndt Vincent Probst Alice Ghidoni Roberto Insolia Robert M Hamilton Stephen W Scherer Jeffrey Brandimarto Kenneth Margulies Christine E Moravec Fabiola del Greco M Christian Fuchsberger Jeffrey R O'Connell Wai K Lee Graham C M Watt Harry Campbell Sarah H Wild Nour E El Mokhtari Norbert Frey Folkert W Asselbergs Irene Mateo Leach Gerjan Navis Maarten P van den Berg Dirk J van Veldhuisen Manolis Kellis Bouwe P Krijthe Oscar H Franco Albert Hofman Jan A Kors André G Uitterlinden Jacqueline C M Witteman Lyudmyla Kedenko Claudia Lamina Ben A Oostra Gonçalo R Abecasis Edward G Lakatta Antonella Mulas Marco Orrú David Schlessinger Manuela Uda Marcello R P Markus Uwe Völker Harold Snieder Timothy D Spector Johan Ärnlöv Lars Lind Johan Sundström Ann-Christine Syvänen Mika Kivimaki Mika Kähönen Nina Mononen Olli T Raitakari Jorma S Viikari Vera Adamkova Stefan Kiechl Maria Brion Andrew N Nicolaides Bernhard Paulweber Johannes Haerting Anna F Dominiczak Fredrik Nyberg Peter H Whincup Aroon D Hingorani Jean-Jacques Schott Connie R Bezzina Erik Ingelsson Luigi Ferrucci Paolo Gasparini James F Wilson Igor Rudan Andre Franke Thomas W Mühleisen Peter P Pramstaller Terho J Lehtimäki Andrew D Paterson Afshin Parsa Yongmei Liu Cornelia M van Duijn David S Siscovick Vilmundur Gudnason Yalda Jamshidi Veikko Salomaa Stephan B Felix Serena Sanna Marylyn D Ritchie Bruno H Stricker Kari Stefansson Laurie A Boyer Thomas P Cappola Jesper V Olsen Kasper Lage Peter J Schwartz Stefan Kääb Aravinda Chakravarti Michael J Ackerman Arne Pfeufer Paul I W de Bakker Christopher Newton-Cheh

Nat Genet 2014 Aug 22;46(8):826-36. Epub 2014 Jun 22.

1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Harvard Medical School, Boston, Massachusetts, USA. [4] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA. [5].

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124521PMC
August 2014

A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria.

Heart Rhythm 2014 Jul 8;11(7):1176-83. Epub 2014 Apr 8.

Laboratory of Cardiovascular Genetics and Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, Milan, Italy. Electronic address:

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July 2014

Drug-induced long QT syndrome and exome sequencing: Chinese shadows link past and future.

J Am Coll Cardiol 2014 Apr 19;63(14):1438-40. Epub 2014 Feb 19.

IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy. Electronic address:

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April 2014

Reply to the Editor--Propranolol prevents life-threatening arrhythmias in LQT3 transgenic mice: implications for the clinical management of LQT3 patients.

Heart Rhythm 2014 Mar 1;11(3):e1-2. Epub 2014 Jan 1.

Laboratory of Cardiovascular Genetics and Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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March 2014

Propranolol prevents life-threatening arrhythmias in LQT3 transgenic mice: implications for the clinical management of LQT3 patients.

Heart Rhythm 2014 Jan 14;11(1):126-32. Epub 2013 Oct 14.

IRCCS Istituto Auxologico Italiano, Laboratory of Cardiovascular Genetics, Milan, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy; IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin, Milan, Italy; Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, University of Cape Town, Cape Town, South Africa; Department of Medicine, University of Stellenbosch, Stellenbosch, South Africa; Department of Family and Community Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882517PMC
January 2014

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Nat Genet 2013 Sep 21;45(9):1044-9. Epub 2013 Jul 21.

Department of Clinical and Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869788PMC
September 2013

[Clinical conditions associated with abnormal QT interval: clinical implications].

G Ital Cardiol (Rome) 2013 Jan;14(1):55-65

Sezione di Cardiologia, Dipartimento di Medicina Molecolare, Università degli Studi, Pavia, Italy.

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http://dx.doi.org/10.1714/1207.13373DOI Listing
January 2013

Long-QT syndrome: from genetics to management.

Circ Arrhythm Electrophysiol 2012 Aug;5(4):868-77

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1161/CIRCEP.111.962019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461497PMC
August 2012

Gene expression and arrhythmic risk.

Authors:
Lia Crotti

Heart Rhythm 2012 Jul 8;9(7):1097-8. Epub 2012 Mar 8.

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July 2012

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.

Heart Rhythm 2011 Jul 22;8(7):1024-32. Epub 2011 Feb 22.

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150551PMC
July 2011

Genetic predisposition to sudden cardiac death.

Authors:
Lia Crotti

Curr Opin Cardiol 2011 Jan;26(1):46-50

University of Pavia and IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.

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January 2011

Pleiotropic mutations in ion channels: what lies behind them?

Authors:
Lia Crotti

Heart Rhythm 2011 Jan 7;8(1):56-7. Epub 2010 Oct 7.

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January 2011