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Items: 19

Select item 101788001.

Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

Stefania Lenarduzzi, Beatrice Spedicati, Beatrice Alessandrini, Paola Tesolin, Alessia Paldino, Marta Gigli, Gianfranco Sinagra, Paolo Gasparini, Matteo Dal Ferro, Giorgia Girotto

Mol Genet Genomic Med. 2023 May; 11(5): e2143. Published online 2023 Feb 14. doi: 10.1002/mgg3.2143

PMCID:: PMC10178800

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Select item 101490312.

A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?

Bo Yu, Kun Shi, Yang Wen, Yanfeng Yang

BMC Cardiovasc Disord. 2023; 23: 224. Published online 2023 Apr 29. doi: 10.1186/s12872-023-03132-y

PMCID:: PMC10149031

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Select item 94623893.

Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome

Shahryar Chowdhury, Lanier Jackson, Barry J. Byrne, Randall M. Bryant, W. Todd Cade, Tammy Lane Churchill, Julia Buchanan, Carolyn Taylor

Pediatr Cardiol. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Pediatr Cardiol. 2022 Aug; 43(6): 1251–1263. Published online 2022 Mar 3. doi: 10.1007/s00246-022-02846-8

PMCID:: PMC9462389

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Select item 92386124.

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 83670565.

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Zhong-Yu Yuan, Li-Ting Cheng, Ze-Feng Wang, Yong-Quan Wu

Chin Med J (Engl) 2021 Aug 5; 134(15): 1771–1779. Published online 2021 Aug 2. doi: 10.1097/CM9.0000000000001581

PMCID:: PMC8367056

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Select item 78283706.

RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart

Yuriy Vakhrushev, Alexandra Kozyreva, Andrey Semenov, Polina Sokolnikova, Tamara Lubimtseva, Dmitry Lebedev, Natalia Smolina, Sergey Zhuk, Lubov Mitrofanova, Elena Vasichkina, Anna Kostareva

Genes (Basel) 2021 Jan; 12(1): 94. Published online 2021 Jan 13. doi: 10.3390/genes12010094

PMCID:: PMC7828370

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Select item 71964537.

Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction

Sai Suma K. Samudrala, Lauren M. North, Karl D. Stamm, Michael G. Earing, Michele A. Frommelt, Richard Willes, Swarnendu Tripathi, Nikita R. Dsouza, Michael T. Zimmermann, Donna K. Mahnke, Huan Ling Liang, Michael Lund, Chien‐Wei Lin, Gabrielle C. Geddes, Michael E. Mitchell, Aoy Tomita‐Mitchell

Mol Genet Genomic Med. 2020 Apr; 8(4): e1152. Published online 2020 Jan 27. doi: 10.1002/mgg3.1152

PMCID:: PMC7196453

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Select item 70368158.

Genome Editing for the Understanding and Treatment of Inherited Cardiomyopathies

Quynh Nguyen, Kenji Rowel Q. Lim, Toshifumi Yokota

Int J Mol Sci. 2020 Feb; 21(3): 733. Published online 2020 Jan 22. doi: 10.3390/ijms21030733

PMCID:: PMC7036815

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Select item 67778119.

Semaphorin 3E/PlexinD1 signaling is required for cardiac ventricular compaction

Reddemma Sandireddy, Dasan Mary Cibi, Priyanka Gupta, Anamika Singh, Nicole Tee, Akiyoshi Uemura, Jonathan A. Epstein, Manvendra K. Singh

JCI Insight. 2019 Aug 22; 4(16): e125908. Published online 2019 Aug 22. doi: 10.1172/jci.insight.125908

PMCID:: PMC6777811

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Select item 665413010.

Isolated noncompaction left ventricular myocardium and polymorphic ventricular tachycardia

Luis Serés, Jorge Lopez, Eduardo Larrousse, Angel Moya, Damian Pereferrer, Vicente Valle

Clin Cardiol. 2003 Jan; 26(1): 46–48. Published online 2006 Dec 5. doi: 10.1002/clc.4960260111

PMCID:: PMC6654130

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Select item 665288511.

Genetic Heterogeneity of Left‐ventricular Noncompaction Cardiomyopathy

Ewa Moric‐Janiszewska, Grazyna Markiewicz‐Łoskot

Clin Cardiol. 2008 May; 31(5): 201–204. Published online 2007 Aug 29. doi: 10.1002/clc.20202

PMCID:: PMC6652885

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Select item 614709012.

Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion

Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R. Behr, Sanjay Sharma

Circulation. 2018 Sep 18; 138(12): 1184–1194. Published online 2018 Sep 17. doi: 10.1161/CIRCULATIONAHA.118.034208

PMCID:: PMC6147090

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Select item 611796713.

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 599122814.

Wolff-Parkinson-White syndrome and noncompaction in Leber’s hereditary optic neuropathy due to the variant m.3460G>A

Josef Finsterer, Claudia Stollberger, Edmund Gatterer

J Int Med Res. 2018 May; 46(5): 2054–2060. Published online 2018 Mar 22. doi: 10.1177/0300060518765846

PMCID:: PMC5991228

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Select item 585020715.

Novel α‐Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical‐Pathologic Correlation

Andrea Frustaci, Alessandro De Luca, Valentina Guida, Tommaso Biagini, Tommaso Mazza, Carlo Gaudio, Claudio Letizia, Matteo Antonio Russo, Nicola Galea, Cristina Chimenti

J Am Heart Assoc. 2018 Feb; 7(4): e008068. Published online 2018 Feb 10. doi: 10.1161/JAHA.117.008068

PMCID:: PMC5850207

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Select item 565729816.

Pediatric Cardiomyopathies

Teresa M. Lee, Daphne T. Hsu, Paul Kantor, Jeffrey A. Towbin, Stephanie M. Ware, Steven D. Colan, Wendy K. Chung, John L. Jefferies, Joseph W. Rossano, Chesney D. Castleberry, Linda J. Addonizio, Ashwin K. Lal, Jacqueline M. Lamour, Erin M. Miller, Philip T. Thrush, Jason D. Czachor, Hiedy Razoky, Ashley Hill, Steven E. Lipshultz

Circ Res. Author manuscript; available in PMC 2018 Sep 15.

Published in final edited form as: Circ Res. 2017 Sep 15; 121(7): 855–873. doi: 10.1161/CIRCRESAHA.116.309386