Cardiomyopathies: Current Treatment and Future Options

Contributors: Peters, Stefan

Subject Terms: cardiomyopathy, hypertrophic, dilated, arrhythmogenic, filamin C, gene mutations, Emery–Dreifuss muscular dystrophy, LMNA, EMD, emerin, lamin A/C, ajmaline challenge, Brugada syndrome, early repolarization syndrome, arrhythmogenic right ventricular cardiomyopathy, long QT syndrome, hypertrophic cardiomyopathy, parvovirus B19, dilated inflammatory cardiomyopathy, telbivudine, noncompaction cardiomyopathy, NCCM-diagnostic-therapy-prognosis, cardiomyopathy classification, LVNC, LVHT, phenotype, congenital heart disease, arrhythmogenic cardiomyopathy, risk stratification, drug therapy, implantable cardioverter defibrillator, catheter ablation, treatment, Fabry, options, takotsubo syndrome, takotsubo cardiomyopathy, therapy of takotsubo syndrome, therapy of takotsubo cardiomyopathy, dilated cardiomyopathy, RBM20, arrhythmia, heart failure, gene therapy, alternative splicing, restrictive cardiomyopathy, cardiovascular genetics, desmin, troponin, filamin-C, transthyretin amyloid cardiomyopathy, TTR amyloid, cardiac amyloidosis, tafamidis, clinical development, arrhythmogenic left ventricular cardiomyopathy, pregnancy, desmoplakin, plakofillin-2, takotsubo, trigger, stress, outcome, cardiomyopathies, alcohol septal ablation, hypertrophic obstructive cardiomyopathy, septal reduction treatment, Applied mathematics

File Description: application/octet-stream

Access URL: https://directory.doabooks.org/handle/20.500.12854/137665
https://mdpi.com/books/pdfview/book/8882

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium

Authors: Kishan L. Asokan, Jennifer R. Landes, Wannes Renders, Laura Muiño Mosquera, Julie De Backer, David W. Jantzen, Anji T. Yetman, Gisela Teixido‐Tura, Arturo Evangelista, Richmond Jeremy, Edward G. Jones, Shaine Morris, Tam Doan, Maral Ouzonian, Alan Braverman, Guillaume Jondeau, Olivier Milleron, Dianna M. Milewicz, Siddharth K. Prakash

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)

Subject Terms: cardiovascular genetics, congenital heart disease, Loeys–Dietz syndrome, mitral valve, thoracic aortic aneurysms and dissections, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/6412c93cdefe495f925a1a5d4ad6db2b

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications

Authors: Mansoorshahi, Sara ¹, Yetman, Anji T. ², Bissell, Malenka M. ³, Kim, Yuli Y. ⁴, Michelena, Hector I. ⁵, De Backer, Julie ⁶, Mosquera, Laura Muiño ⁶, Hui, Dawn S. ⁷, Caffarelli, Anthony ⁸, Andreassi, Maria G. ⁹, Foffa, Ilenia ⁹, Guo, Dongchuan ¹, Citro, Rodolfo ¹⁰, De Marco, Margot ¹¹, Tretter, Justin T. ¹², Morris, Shaine A. ¹³, Body, Simon C. ¹⁴, Chong, Jessica X. ¹⁵, Bamshad, Michael J. ¹⁵, Milewicz, Dianna M. ¹, Prakash, Siddharth K. ^{1, ∗}

Source: In The American Journal of Human Genetics 3 October 2024 111(10):2219-2231

Treatment of RAF1-Related Obstructive Hypertrophic Cardiomyopathy by MEK Inhibition Using Trametinib

Authors: Omid Kiamanesh, MD, Steven C. Greenway, MD, Franciscus Dicke, MD, MBA, Brennan Ballantyne, MD, Sasha Mitrovic, RDCS, Kaitlin McGrath, MD, James A. White, MD, William D.T. Kent, MD, Gregor Andelfinger, MD

Source: JACC: Case Reports, Vol 29, Iss 13, Pp 102379- (2024)

Subject Terms: cardiovascular genetics, hypertrophic cardiomyopathy, Noonan syndrome, RASopathies, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666084924001724; https://doaj.org/toc/2666-0849

Access URL: https://doaj.org/article/9cbf8ae779bf410c9b90d4e76e614784

Corrigendum: The role of registers in increasing knowledge and improving management of children and adolescents affected by familial hypercholesterolemia: The LIPIGEN pediatric group

Authors: Marta Gazzotti, Manuela Casula, Stefano Bertolini, Maria Elena Capra, Elena Olmastroni, Alberico Luigi Catapano, Cristina Pederiva, LIPIGEN Paediatric Group

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: familial hypercholesterolemia, pediatric cohort, genetic diagnosis, pathology register, clinical diagnosis, cardiovascular genetics, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1113454/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/ea643da41d71474993702c60d0ccb8b4

Precision therapy in dilated cardiomyopathy: Pipedream or paradigm shift?

Authors: Saad Javed, Brian P. Halliday

Source: Cambridge Prisms: Precision Medicine, Vol 1 (2023)

Subject Terms: dilated cardiomyopathy, heart failure, cardiovascular genetics, precision medicine, gene therapy, Internal medicine, RC31-1245, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S2752614323000248/type/journal_article; https://doaj.org/toc/2752-6143

Access URL: https://doaj.org/article/2cb542179915489ca713aa7160d59aaa

A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices

Authors: Matthew D. Durbin, Lindsey R. Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Vidu Garg, Gabrielle C. Geddes, Benjamin M. Helm, Seema R. Lalani, Kim L. McBride, Alexis McEntire, Dana K. Mitchell, Chaya N. Murali, Stephanie B. Wechsler, Benjamin J. Landis, Stephanie M. Ware

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100814- (2023)

Subject Terms: Cardiovascular genetics, Congenital heart disease, Genetic testing, Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423008233; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/6e7126e01ae843229c6b557e44a82b1c

Association of cannabis use disorder with cardiovascular diseases: A two-sample Mendelian randomization study

Authors: Miao Chen, Yun-long Lu, Xiao-fan Chen, Zhen Wang, Liang Ma

Source: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

Subject Terms: cannabis use disorder, cardiovascular diseases, Mendelian randomization study, GWAS - genome-wide association study, cardiovascular genetics, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2022.966707/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/2c630f5cea594700a55fa630145e7383

The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group

Authors: Marta Gazzotti, Manuela Casula, Stefano Bertolini, Maria Elena Capra, Elena Olmastroni, Alberico Luigi Catapano, Cristina Pederiva, the LIPIGEN Paediatric Group, Massimiliano Allevi, Marcello Arca, Renata Auricchio, Maurizio Averna, Davide Baldera, Giuseppe Banderali, Andrea Bartuli, Giacomo Biasucci, Claudio Borghi, Patrizia Bruzzi, Raffaele Buganza, Paola Sabrina Buonuomo, Paolo Calabrò, Sebastiano Calandra, Francesca Carubbi, Arturo Cesaro, Francesco Cipollone, Nadia Citroni, Giuseppe Covetti, Annalaura Cremonini, Sergio D’Addato, Maria Del Ben, Maria Donata Di Taranto, Giuliana Fortunato, Roberto Franceschi, Federica Galimberti, Simonetta Genovesi, Antonina Giammanco, Liliana Grigore, Ornella Guardamagna, Arcangelo Iannuzzi, Gabriella Iannuzzo, Lorenzo Iughetti, Lidia Lascala, Fabiana Locatelli, Sara Madaghiele, Giuseppe Mandraffino, Massimo Raffaele Mannarino, Bucci Marco, Lorenzo Maroni, Ilenia Minicocci, Giuliana Mombelli, Sandro Muntoni, Fabio Nascimbeni, Gianfranco Parati, Angelina Passaro, Chiara Pavanello, Fabio Pellegatta, Francesco Massimo Perla, Matteo Pirro, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elisabetta Rinaldi, Riccardo Sarzani, Roberto Scicali, Patrizia Suppressa, Patrizia Tarugi, Sabrina Verachtert, Giovanni Battista Vigna, Josè Pablo Werba, Alberto Zambon, Sabina Zambon, Maria Grazia Zenti

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: familial hypercholesterolemia, pediatric cohort, genetic diagnosis, pathology register, clinical diagnosis, cardiovascular genetics, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.912510/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/89bbc97e24a34c4996186aca15b69866

5 - Genetics of congenital heart disease

Authors: Roberts, Amy E., Lacro, Ronald V.

Source: In Nadas' Pediatric Cardiology Edition: Third Edition. 2025:55-63

Current Challenges in Cardiovascular Molecular Diagnostics

Authors: Carlo Napolitano, Jeffrey A. Towbin, Guia Guffanti, Luisa Mestroni, Valeria Novelli, Matteo Vatta

Subject Terms: R5-920, genetic variants, Cardiovascular Diseases, Genetic Testing, channelopathy, variant interpretation, NGS, Sudden cardiac death, cardiomyopathy, Cardiovascular genetics, Medicine and Nursing

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Relation: Frontiers Research Topics

Access URL: https://directory.doabooks.org/handle/20.500.12854/44409
http://www.frontiersin.org/books/Current_Challenges_in_Cardiovascular_Molecular_Diagnostics/1324#nogo
http://journal.frontiersin.org/researchtopic/4244/current-challenges-in-cardiovascular-molecular-diagnostics

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients

Authors: Melania Lippi, Mattia Chiesa, Ciro Ascione, Matteo Pedrazzini, Saima Mushtaq, Davide Rovina, Daniela Riggio, Anna Maria Di Blasio, Maria Luisa Biondi, Giulio Pompilio, Gualtiero I. Colombo, Michela Casella, Valeria Novelli, Elena Sommariva

Source: Biomolecules, Vol 12, Iss 8, p 1043 (2022)

Subject Terms: arrhythmogenic cardiomyopathy, cardiovascular genetics, genotype-phenotype correlation, desmosomal genes, rare variants, common variants, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-273X/12/8/1043; https://doaj.org/toc/2218-273X

Access URL: https://doaj.org/article/371c9cc628b542988473d2506becada5

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene

Authors: Wolfgang Poller, Jan Haas, Karin Klingel, Jirko Kühnisch, Martina Gast, Ziya Kaya, Felicitas Escher, Elham Kayvanpour, Franziska Degener, Bernd Opgen‐Rhein, Felix Berger, Hans‐Christian Mochmann, Carsten Skurk, Bettina Heidecker, Heinz‐Peter Schultheiss, Lorenzo Monserrat, Benjamin Meder, Ulf Landmesser, Sabine Klaassen

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 10 (2020)

Subject Terms: arrhythmogenic cardiomyopathy, cardiovascular genetics, desmoplakin, genome‐environment interactions, myocarditis, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/8bd6ccae61364c43bafd7be42a262834

The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3

Authors: Andreas Brodehl, Carsten Hain, Franziska Flottmann, Sandra Ratnavadivel, Anna Gaertner, Bärbel Klauke, Jörn Kalinowski, Hermann Körperich, Jan Gummert, Lech Paluszkiewicz, Marcus-André Deutsch, Hendrik Milting

Source: Biomedicines, Vol 9, Iss 10, p 1400 (2021)

Subject Terms: restrictive cardiomyopathy, skeletal myopathy, desmin, intermediate filaments, desmosomes, cardiovascular genetics, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/9/10/1400; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/3f65635a238b46a88033c89ee02229ea

FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

Authors: Rene L. Begay, BS, Charles A. Tharp, MD, August Martin, Sharon L. Graw, PhD, Gianfranco Sinagra, MD, Daniela Miani, MD, Mary E. Sweet, BA, Dobromir B. Slavov, PhD, Neil Stafford, MD, Molly J. Zeller, Rasha Alnefaie, Teisha J. Rowland, PhD, Francesca Brun, MD, Kenneth L. Jones, PhD, Katherine Gowan, Luisa Mestroni, MD, Deborah M. Garrity, PhD, Matthew R.G. Taylor, MD, PhD

Source: JACC: Basic to Translational Science, Vol 1, Iss 5, Pp 344-359 (2016)

Subject Terms: cardiovascular genetics, dilated cardiomyopathy, filamin C, heart failure, zebrafish, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2452302X16300328; https://doaj.org/toc/2452-302X

Access URL: https://doaj.org/article/234247b2b5784c6fbf2ceca86cc593b3

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

Authors: Marta Gigli, Rene Begay, Gaetano Morea, Sharon Graw, Gianfranco Sinagra, Matthew Taylor, Henk Granzier, Luisa Mestroni

Source: Frontiers in Cardiovascular Medicine, Vol 3 (2016)

Subject Terms: Heart Failure, Cardiovascular genetics, Clinical genetics, Titin, clinical diagnosis, TTN, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fcvm.2016.00021/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/d7cb1588fd584eebae0ae16ea1024008

Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients

Authors: Katherine Grace Spoonamore, Nicole M Johnson

Source: Frontiers in Cardiovascular Medicine, Vol 3 (2016)

Subject Terms: Genetic Testing, Insurance Coverage, Cardiovascular genetics, Access barriers, Preventative care, cascade testing, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fcvm.2016.00014/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/ee5d3916c49f4e069afdd152219edd2c

Cardiovascular cascade genetic testing: Exploring the role of direct contact and technology

Authors: Amy Curry Sturm

Source: Frontiers in Cardiovascular Medicine, Vol 3 (2016)

Subject Terms: Genetic Counseling, Genetic Testing, Cardiovascular genetics, Familial Hypercholesterolemia, Genetic counselor, Direct contact, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fcvm.2016.00011/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/2ba07c020b964674946727a13910c7b1

Endothelial Notch1 Is Required for Proper Development of the Semilunar Valves and Cardiac Outflow Tract

Authors: Sara N. Koenig, Kevin Bosse, Uddalak Majumdar, Elizabeth M. Bonachea, Freddy Radtke, Vidu Garg

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 5, Iss 4 (2016)

Subject Terms: bicuspid aortic valve, cardiovascular genetics, congenital heart defect, conotruncal heart defects, Notch1 signaling, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/89612898f1ec4105b7cbe20f001c4617

7 - Applications of Genetics to Cardiovascular Medicine

Authors: Natarajan, Pradeep, Musunuru, Kiran

Source: In Braunwald's Heart Disease Edition: Twelfth Edition. 2022:71-86