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Select item 93666601.

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

Lisa M. Dellefave-Castillo, Allison L. Cirino, Thomas E. Callis, Edward D. Esplin, John Garcia, Kathryn E. Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert L. Nussbaum, Elizabeth M. McNally

JAMA Cardiol. 2022 Sep; 7(9): 966–974. Published online 2022 Aug 10. doi: 10.1001/jamacardio.2022.2455

PMCID:: PMC9366660

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Select item 92386122.

Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome

Emily Smith, Paul D. Thompson, Carolyn Burke‐Martindale, Adaya Weissler‐Snir

J Am Heart Assoc. 2022 May 3; 11(9): e024501. Published online 2022 Apr 26. doi: 10.1161/JAHA.121.024501

PMCID:: PMC9238612

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Select item 87439753.

A Case of Early Hereditary Transthyretin Amyloid Cardiomyopathy Recognition With Genetic Screening: A Case Report

Michel Juarez, Gaspar Del Rio-Pertuz, Kanak Parmar, Melanie C. Bois, Scott Shurmur, Erwin Argueta-Sosa

J Prim Care Community Health. 2022 Jan-Dec; 13: 21501319211062682. Published online 2022 Jan 4. doi: 10.1177/21501319211062682

PMCID:: PMC8743975

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Select item 84060014.

Disease-associated mutations impacting BC-loop flexibility trigger long-range transthyretin tetramer destabilization and aggregation

Sebastián A. Esperante, Nathalia Varejāo, Francisca Pinheiro, Ricardo Sant'Anna, Juan Román Luque-Ortega, Carlos Alfonso, Valentina Sora, Elena Papaleo, Germán Rivas, David Reverter, Salvador Ventura

J Biol Chem. 2021 Sep; 297(3): 101039. Published online 2021 Jul 31. doi: 10.1016/j.jbc.2021.101039

PMCID:: PMC8406001

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Select item 83920195.

Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features

Zoltán Pozsonyi, Gergely Peskó, Hedvig Takács, Dorottya Csuka, Viktória Nagy, Ágnes Szilágyi, Lidia Hategan, Balázs Muk, Beáta Csányi, Noémi Nyolczas, Lívia Dézsi, Judit Mária Molnár, Anita Csillik, Katalin Révész, Béla Iványi, Fruzsina Szabó, Krisztián Birtalan, Tamás Masszi, Zsuzsanna Arányi, Róbert Sepp

Genes (Basel) 2021 Aug; 12(8): 1152. Published online 2021 Jul 28. doi: 10.3390/genes12081152

PMCID:: PMC8392019

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Select item 81842246.

Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in ‘lone’ atrial fibrillation

Julieta Lazarte, Zachary W Laksman, Jian Wang, John F Robinson, Jacqueline S Dron, Emma Leach, Janet Liew, Adam D McIntyre, Allan C Skanes, Lorne J Gula, Peter Leong-Sit, Henian Cao, Brett Trost, Stephen W Scherer, Robert A Hegele, Jason D Roberts

Europace. 2021 Jun; 23(6): 844–850. Published online 2021 Mar 3. doi: 10.1093/europace/euaa421

PMCID:: PMC8184224

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Select item 80028627.

Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report

Joonhong Park, Jong-Min Lee, Jung Sun Cho

Medicina (Kaunas) 2021 Mar; 57(3): 281. Published online 2021 Mar 18. doi: 10.3390/medicina57030281

PMCID:: PMC8002862

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Select item 75455598.

Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis

Hedvig Paulsson Rokke, Nima Sadat Gousheh, Per Westermark, Ole B. Suhr, Intissar Anan, Elisabet Ihse, Björn Pilebro, Jonas Wixner

Orphanet J Rare Dis. 2020; 15: 278. Published online 2020 Oct 8. doi: 10.1186/s13023-020-01565-8

PMCID:: PMC7545559

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Select item 75241289.

ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients

Tiina Heliö, Perry Elliott, Juha W. Koskenvuo, Juan R. Gimeno, Luigi Tavazzi, Michal Tendera, Juan Pablo Kaski, Nicolas Mansencal, Zofia Bilińska, Gerry Carr‐White, Thibaud Damy, Andrea Frustaci, Ingrid Kindermann, Tomas Ripoll‐Vera, Jelena Čelutkienė, Anna Axelsson, Massimiliano Lorenzini, Aly Saad, Aldo P. Maggioni, Cécile Laroche, Alida L.P. Caforio, Philippe Charron, EORP Cardiomyopathy Registry Investigators Group

ESC Heart Fail. 2020 Oct; 7(5): 3013–3021. Published online 2020 Aug 7. doi: 10.1002/ehf2.12925

PMCID:: PMC7524128

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Select item 690945510.

Long term CMR follow up of patients with right ventricular abnormality and clinically suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)

Giuseppe Femia, Christopher Semsarian, Mark McGuire, Raymond W. Sy, Rajesh Puranik

J Cardiovasc Magn Reson. 2019; 21: 76. Published online 2019 Dec 12. doi: 10.1186/s12968-019-0581-0

PMCID:: PMC6909455

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Select item 653586011.

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro

Skelet Muscle. 2019; 9: 14. Published online 2019 May 27. doi: 10.1186/s13395-019-0199-9

PMCID:: PMC6535860

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Select item 641839812.

Differential expression of circulating miRNAs as a novel tool to assess BAG3-associated familial dilated cardiomyopathy

Carlos Zaragoza, Marta Saura, Ignacio Hernández, Rafael Ramirez-Carracedo, Francisco García-García, Jose L. Zamorano, Alipio Mangas, Rocio Toro

Biosci Rep. 2019 Mar 29; 39(3): BSR20180934. Prepublished online 2019 Feb 21. Published online 2019 Mar 15. doi: 10.1042/BSR20180934

PMCID:: PMC6418398

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Select item 639221613.

Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis

George Zanazzi, Muhammad Arshad, Mathew S. Maurer, Thomas H. Brannagan, III, Kurenai Tanji

J Clin Neuromuscul Dis. 2019 Mar; 20(3): 120–128. Published online 2019 Feb 20. doi: 10.1097/CND.0000000000000242

PMCID:: PMC6392216

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Select item 611796714.

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

Chaoxia Lu, Wei Wu, Fang Liu, Kunqi Yang, Jiacheng Li, Yaping Liu, Rongrong Wang, Nuo Si, Peng Gao, Yongtai Liu, Shuyang Zhang, Xue Zhang

J Transl Med. 2018; 16: 241. Published online 2018 Aug 30. doi: 10.1186/s12967-018-1605-5

PMCID:: PMC6117967

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Select item 607405015.

Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures

Rene L. Begay, Sharon L. Graw, Gianfranco Sinagra, Angeliki Asimaki, Teisha J. Rowland, Dobromir B. Slavov, Katherine Gowan, Kenneth L. Jones, Francesca Brun, Marco Merlo, Daniela Miani, Mary Sweet, Kalpana Devaraj, Eric P. Wartchow, Marta Gigli, Ilaria Puggia, Ernesto E. Salcedo, Deborah M. Garrity, Amrut V. Ambardekar, Peter Buttrick, T. Brett Reece, Michael R. Bristow, Jeffrey E. Saffitz, Luisa Mestroni, Matthew R.G. Taylor

JACC Clin Electrophysiol. Author manuscript; available in PMC 2018 Aug 3.

Published in final edited form as: JACC Clin Electrophysiol. 2018 Apr; 4(4): 504–514. Published online 2018 Feb 2. doi: 10.1016/j.jacep.2017.12.003

PMCID:: PMC6074050

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Select item 573108616.

Cytoprotective activated protein C averts Nlrp3 inflammasome–induced ischemia-reperfusion injury via mTORC1 inhibition

Sumra Nazir, Ihsan Gadi, Moh’d Mohanad Al-Dabet, Ahmed Elwakiel, Shrey Kohli, Sanchita Ghosh, Jayakumar Manoharan, Satish Ranjan, Fabian Bock, Ruediger C. Braun-Dullaeus, Charles T. Esmon, Tobias B. Huber, Eric Camerer, Chris Dockendorff, John H. Griffin, Berend Isermann, Khurrum Shahzad

Blood. 2017 Dec 14; 130(24): 2664–2677. Prepublished online 2017 Sep 7. doi: 10.1182/blood-2017-05-782102

PMCID:: PMC5731086

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Select item 555232417.

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy

Rita Mendes de Almeida, Joana Tavares, Sandra Martins, Teresa Carvalho, Francisco J. Enguita, Dulce Brito, Maria Carmo-Fonseca, Luís Rocha Lopes

PLoS One. 2017; 12(8): e0182946. Published online 2017 Aug 10. doi: 10.1371/journal.pone.0182946

PMCID:: PMC5552324

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Select item 502256318.

Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all

Thomas E Callis, Brian C Jensen, Karen E Weck, Monte S Willis

Expert Rev Mol Diagn. Author manuscript; available in PMC 2016 Sep 14.

Published in final edited form as: Expert Rev Mol Diagn. 2010 Apr; 10(3): 329–351. doi: 10.1586/erm.10.13

PMCID:: PMC5022563

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Select item 501538119.

Natural History of Dilated Cardiomyopathy in Children

Ilaria Puggia, Marco Merlo, Giulia Barbati, Teisha J. Rowland, Davide Stolfo, Marta Gigli, Federica Ramani, Andrea Di Lenarda, Luisa Mestroni, Gianfranco Sinagra

J Am Heart Assoc. 2016 Jul; 5(7): e003450. Published online 2016 Jun 30. doi: 10.1161/JAHA.116.003450

PMCID:: PMC5015381

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Select item 485582120.

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

J. K. Poninska, Z. T. Bilinska, M. Franaszczyk, E. Michalak, M. Rydzanicz, E. Szpakowski, A. Pollak, B. Milanowska, G. Truszkowska, P. Chmielewski, A. Sioma, H. Janaszek-Sitkowska, A. Klisiewicz, I. Michalowska, M. Makowiecka-Ciesla, P. Kolsut, P. Stawinski, B. Foss-Nieradko, M. Szperl, J. Grzybowski, P. Hoffman, A. Januszewicz, M. Kusmierczyk, R. Ploski

J Transl Med. 2016; 14: 115. Published online 2016 May 4. doi: 10.1186/s12967-016-0870-4

PMCID:: PMC4855821

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