Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
Fernando Dominguez,Sofía Cuenca,Zofia T. Bilińska,Rocío Toro,Eric Villard,Roberto Barriales-Villa,Juan Pablo Ochoa,Folkert W. Asselbergs,Arjan Sammani,Maria Franaszczyk,Mohammed Shakil Akhtar,Maria José Coronado-Albi,Diego Rangel-Sousa,José Rodríguez-Palomares,Juan Jiménez-Jáimez,José Manuel García-Pinilla,Tomás Ripoll-Vera,Maria Victoria Mogollón-Jimenez,Ana Fontalba-Romero,Dolores Garcia-Medina,Julián Palomino-Doza,David de Gonzalo-Calvo,Marcos Cicerchia,Joel Salazar-Mendiguchía,Clara Salas,Sabine Pankuweit,Thomas Morris Hey,Jens Mogensen,Paul J.R. Barton,Philippe Charron,Perry M. Elliott,Pablo García-Pavía +31 more
TLDR
DCM caused by mutations in BAG3 is characterized by high penetrance in carriers >40 years of age and a high risk of progressive heart failure.About:
This article is published in Journal of the American College of Cardiology.The article was published on 2018-11-13 and is currently open access. It has received 82 citations till now. The article focuses on the topics: Dilated cardiomyopathy & Cardiomyopathy.read more
Citations
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Journal ArticleDOI
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
Sonia Shah,Albert Henry,Carolina Roselli,Honghuang Lin,G Sveinbjörnsson,Ghazaleh Fatemifar,Åsa K. Hedman,Jemma B. Wilk,Morley Mp,Mark Chaffin,Anna Helgadottir,Niek Verweij,Niek Verweij,Abbas Dehghan,Peter Almgren,C. Andersson,Krishna G. Aragam,Krishna G. Aragam,Johan Ärnlöv,Johan Ärnlöv,Joshua D. Backman,Mary L. Biggs,Heather L. Bloom,Jeff Brandimarto,Michael R. Brown,Leonard Buckbinder,David J. Carey,Daniel I. Chasman,Xu Chen,Jonathan H. Chung,William A. Chutkow,James P. Cook,Graciela E. Delgado,Spiros Denaxas,Alex S. F. Doney,Marcus Dörr,Samuel C. Dudley,Michael E. Dunn,Gunnar Engström,T Esko,T Esko,Stephan B. Felix,Chris Finan,Ian Ford,Mohsen Ghanbari,Sahar Ghasemi,Vilmantas Giedraitis,Franco Giulianini,John S. Gottdiener,Stefan Gross,Daníel F. Guðbjartsson,Daníel F. Guðbjartsson,Rebecca Gutmann,Christopher M. Haggerty,P. van der Harst,Craig L. Hyde,Erik Ingelsson,Joop Jukema,Maryam Kavousi,Khaw K-T.,Marcus E. Kleber,Lars Køber,Andrea Koekemoer,Claudia Langenberg,Lars Lind,Cecilia M. Lindgren,Cecilia M. Lindgren,Cecilia M. Lindgren,Barry London,Luca A. Lotta,Ruth C. Lovering,Jian'an Luan,Patrick K.E. Magnusson,Anubha Mahajan,Kenneth B. Margulies,März W,März W,März W,Olle Melander,Ify R. Mordi,Thomas M. Morgan,Thomas M. Morgan,Andrew D. Morris,Andrew P. Morris,Alanna C. Morrison,Michael W. Nagle,Christopher P. Nelson,Alexander Niessner,Teemu J. Niiranen,Teemu J. Niiranen,Michelle L. O'Donoghue,Anjali T. Owens,Palmer Cna.,Helen M. Parry,Markus Perola,Eliana Portilla-Fernandez,Bruce M. Psaty,Kenneth Rice,Paul M. Ridker,Paul M. Ridker,Romaine Spr.,Jerome I. Rotter,Perttu Salo,Veikko Salomaa,J. van Setten,Alaa Shalaby,Diane T. Smelser,Nicholas L. Smith,Steen Stender,David J. Stott,Per Svensson,Tammesoo M-L.,Kent D. Taylor,Maris Teder-Laving,Alexander Teumer,Guðmundur Thorgeirsson,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Christian Torp-Pedersen,Stella Trompet,Benoit Tyl,André G. Uitterlinden,André G. Uitterlinden,Abirami Veluchamy,Uwe Völker,Adriaan A. Voors,Xianyuan Wang,Nicholas J. Wareham,Dawn M. Waterworth,P.E Weeke,Raul Weiss,Kerri L. Wiggins,Huilin Xing,Laura M. Yerges-Armstrong,Bing Yu,Faiez Zannad,Jing Hua Zhao,Harry Hemingway,Nilesh J. Samani,McMurray Jjv.,Jian Yang,Peter M. Visscher,Christopher Newton-Cheh,Christopher Newton-Cheh,Anders Mälarstig,Anders Mälarstig,Hilma Holm,Steven A. Lubitz,Steven A. Lubitz,Naveed Sattar,Michael V. Holmes,Michael V. Holmes,Michael V. Holmes,Thomas P. Cappola,Folkert W. Asselbergs,Folkert W. Asselbergs,Aroon D. Hingorani,Karoline Kuchenbaecker,Patrick T. Ellinor,Patrick T. Ellinor,Chim C. Lang,Kari Stefansson,Kari Stefansson,J. G. Smith,J. G. Smith,Ramachandran S. Vasan,Daniel I. Swerdlow,R. T. Lumbers +167 more
TL;DR: Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension.
Journal ArticleDOI
Genome-Wide Analysis of Left Ventricular Image-Derived Phenotypes Identifies Fourteen Loci Associated With Cardiac Morphogenesis and Heart Failure Development.
Nay Aung,Nay Aung,Nay Aung,Jose D. Vargas,Chaojie Yang,Claudia P. Cabrera,Helen R. Warren,Helen R. Warren,Kenneth Fung,Kenneth Fung,Kenneth Fung,Evan Tzanis,Michael R. Barnes,Jerome I. Rotter,Kent D. Taylor,Ani Manichaikul,Joao A.C. Lima,David A. Bluemke,Stefan K. Piechnik,Stefan Neubauer,Patricia B. Munroe,Patricia B. Munroe,Steffen E. Petersen,Steffen E. Petersen,Steffen E. Petersen +24 more
TL;DR: This research presents a novel probabilistic approach that allows us to assess the importance of knowing the carrier and removal status of canine coronavirus, as a source of infection for other animals.
Journal ArticleDOI
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.
Mohammed M Akhtar,Massimiliano Lorenzini,Marcos Cicerchia,Juan Pablo Ochoa,Thomas Morris Hey,Maria Sabater Molina,María Alejandra Restrepo-Córdoba,Matteo Dal Ferro,Davide Stolfo,Renee Johnson,José M. Larrañaga-Moreira,Ainhoa Robles-Mezcua,José Rodríguez-Palomares,Guillem Casas,María Luisa Peña-Peña,María Luisa Peña-Peña,Luis R. Lopes,María Gallego-Delgado,Maria Franaszczyk,Gemma Laucey,Diego Rangel-Sousa,Diego Rangel-Sousa,Mayte Basurte,Julián Palomino-Doza,Eduardo Villacorta,Zofia T. Bilińska,Javier Limeres Freire,José Manuel García Pinilla,Roberto Barriales-Villa,Diane Fatkin,Gianfranco Sinagra,Pablo García-Pavía,Juan R. Gimeno,Jens Mogensen,Lorenzo Monserrat,Perry M. Elliott +35 more
TL;DR: TTNtv is characterized by frequent arrhythmia, but malignant ventricular arrhythmias are most commonly associated with severe LVSD, and male sex and LVSD are independent predictors of outcomes.
Journal ArticleDOI
Precision Medicine in the Management of Dilated Cardiomyopathy: JACC State-of-the-Art Review
TL;DR: The authors focus on genetics of dilated cardiomyopathy and provide a roadmap for implementing genomic information into future patient management.
Journal ArticleDOI
Cardiomyocyte contractile impairment in heart failure results from reduced BAG3-mediated sarcomeric protein turnover
Thomas G Martin,Valerie D. Myers,Praveen K Dubey,Shubham Dubey,Edith Perez,Christine S. Moravec,Monte S. Willis,Arthur M. Feldman,Jonathan A. Kirk +8 more
TL;DR: In this paper, the authors investigated the relationship between reduced myofilament force-generating capacity (Fmax) and heart failure and showed impaired Fmax arises from reduced BAG3-mediated sarcomere turnover.
References
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards,Nazneen Aziz,Nazneen Aziz,Sherri J. Bale,David P. Bick,Soma Das,Julie M. Gastier-Foster,Wayne W. Grody,Madhuri Hegde,Elaine Lyon,Elaine B. Spector,Karl V. Voelkerding,Heidi L. Rehm +12 more
TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
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Truncations of Titin Causing Dilated Cardiomyopathy
Daniel S. Herman,Lien Lam,Matthew R.G. Taylor,Libin Wang,Polakit Teekakirikul,Danos C. Christodoulou,Lauren Conner,Steven R. DePalma,Barbara McDonough,Elizabeth Sparks,Debbie Lin Teodorescu,Allison L. Cirino,Nicholas R. Banner,Dudley J. Pennell,Sharon L. Graw,Marco Merlo,Andrea Di Lenarda,Gianfranco Sinagra,J. Martijn Bos,Michael J. Ackerman,Richard N. Mitchell,Charles E. Murry,Neal K. Lakdawala,Carolyn Y. Ho,Paul J.R. Barton,Stuart A. Cook,Luisa Mestroni,Jonathan G. Seidman,Christine E. Seidman +28 more
TL;DR: Incorporation of sequencing approaches that detect TTN truncations into genetic testing for dilated cardiomyopathy should substantially increase test sensitivity, thereby allowing earlier diagnosis and therapeutic intervention for many patients with dilated heart disease.
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Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice : a position statement of the ESC working group on myocardial and pericardial diseases
Yigal M. Pinto,Perry M. Elliott,Eloisa Arbustini,Yehuda Adler,Aristides Anastasakis,Michael Böhm,Denis Duboc,Juan R. Gimeno,Pascal de Groote,Pascal de Groote,Massimo Imazio,Stephane Heymans,Karin Klingel,Michel Komajda,Giuseppe Limongelli,Aleš Linhart,Jens Mogensen,James C. Moon,Petronella G. Pieper,Petar M. Seferovic,Stephan Schueler,José Luis Zamorano,Alida L.P. Caforio,P. Charron +23 more
TL;DR: A revised definition of dilated cardiomyopathy (DCM) is proposed in an attempt to bridge the gap between recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis and the institution of potential preventative measures.
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The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
Virginia V. Michels,Patricia P. Moll,Fletcher A. Miller,A. Jamil Tajik,Julia S. Chu,David J. Driscoll,John C. Burnett,Richard J. Rodeheffer,James H. Chesebro,Henry D. Tazelaar +9 more
TL;DR: Dilated cardiomyopathy was found to be familial in at least one in five of the patients in this study, a considerably higher percentage than in previous reports.
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Clinical and genetic issues in familial dilated cardiomyopathy
Emily Burkett,Ray E. Hershberger +1 more
TL;DR: Echocardiographic and electrocardiographic screening of first-degree relatives of individuals with IDC and FDC is indicated, as detection and treatment are possible before the onset of advanced symptomatic disease.
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