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Select item 109510311.

The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study

Wenjing Yuan, Zhongli Jia, Jiajin Li, Lingjuan Liu, Jie Tian, Xupei Huang, Junjun Quan

Eur J Pediatr. 2024; 183(3): 1389–1401. Published online 2024 Jan 2. doi: 10.1007/s00431-023-05358-6

PMCID:: PMC10951031

Abstract Article PDF–833K

Select item 106463832.

Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency

Oliver P. Hanington, Catherine Armstrong, Germaine Pierre, Graham Stuart, Jules C. Hancox

Ann Noninvasive Electrocardiol. 2023 Nov; 28(6): e13077. Published online 2023 Sep 1. doi: 10.1111/anec.13077

PMCID:: PMC10646383

Abstract Article PDF–1.5M

Select item 106144043.

Genetic heterogeneity of cardiomyopathy and its correlation with patient care

Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Jeong Jin Yu, Go Hun Seo, Minji Kang, Hyo-Sang Do, Sang Eun Lee, Beom Hee Lee

BMC Med Genomics. 2023; 16: 270. Published online 2023 Oct 30. doi: 10.1186/s12920-023-01639-z

PMCID:: PMC10614404

Abstract Article PDF–1.1M

Select item 104190644.

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C

Svetlana B. Tikunova, Jenna Thuma, Jonathan P. Davis

Int J Mol Sci. 2023 Aug; 24(15): 12349. Published online 2023 Aug 2. doi: 10.3390/ijms241512349

PMCID:: PMC10419064

Abstract Article PDF–2.8M

Select item 103123155.

Altered contractility, Ca²⁺ transients, and cell morphology seen in a patient-specific iPSC-CM model of Ebstein’s anomaly with left ventricular noncompaction

Suma K. Thareja, Melissa Anfinson, Matthew Cavanaugh, Min-Su Kim, Peter Lamberton, Jackson Radandt, Ryan Brown, Huan-Ling Liang, Karl Stamm, Muhammad Zeeshan Afzal, Jennifer Strande, Michele A. Frommelt, John W. Lough, Robert H. Fitts, Michael E. Mitchell, Aoy Tomita-Mitchell

Am J Physiol Heart Circ Physiol. 2023 Jul 1; 325(1): H149–H162. Published online 2023 May 19. doi: 10.1152/ajpheart.00658.2022

PMCID:: PMC10312315

Abstract Article

Select item 102887926.

Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction

Nataly Korover, Sharon Etzion, Alexander Cherniak, Tatiana Rabinski, Aviva Levitas, Yoram Etzion, Rivka Ofir, Ruti Parvari, Smadar Cohen

Biol Res. 2023; 56: 34. Published online 2023 Jun 23. doi: 10.1186/s40659-023-00442-5

PMCID:: PMC10288792

Abstract Article PDF–2.8M

Select item 102841407.

Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1

Wei Shi, Angel P. Scialdone, James I. Emerson, Liu Mei, Lauren K. Wasson, Haley A. Davies, Christine E. Seidman, Jonathan G. Seidman, Jeanette G. Cook, Frank L. Conlon

Circ Res. 2023 Jun 23; 133(1): 48–67. Published online 2023 May 31. doi: 10.1161/CIRCRESAHA.122.322223

PMCID:: PMC10284140

Abstract Article PDF–26M

Select item 98649008.

A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans

Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Uzi Hadad, Salam Dabsan, Amir Horev, Raz Zarivach, Ruti Parvari

Int J Mol Sci. 2023 Jan; 24(2): 1388. Published online 2023 Jan 10. doi: 10.3390/ijms24021388

PMCID:: PMC9864900

Abstract Article PDF–2.7M

Select item 94623899.

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

Abstract Article PDF–1.3M

Select item 933214210.

Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center Experience

Dorota Piekutowska-Abramczuk, Agata Paszkowska, Elżbieta Ciara, Kamila Frączak, Alicja Mirecka-Rola, Dorota Wicher, Agnieszka Pollak, Karolina Rutkowska, Jędrzej Sarnecki, Lidia Ziółkowska

Genes (Basel) 2022 Aug; 13(8): 1334. Published online 2022 Jul 26. doi: 10.3390/genes13081334

PMCID:: PMC9332142

Abstract Article PDF–1008K

Select item 923861211.

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

Abstract Article PDF–668K

Select item 903450912.

Roles of Rufy3 in experimental subarachnoid hemorrhage-induced early brain injury via accelerating neuronal axon repair and synaptic plasticity

Yang Wang, Jianguo Xu, Wanchun You, Haitao Shen, Xiang Li, Zhengquan Yu, Haiying Li, Gang Chen

Mol Brain. 2022; 15: 35. Published online 2022 Apr 23. doi: 10.1186/s13041-022-00919-6

PMCID:: PMC9034509

Abstract Article PDF–17M

Select item 894938713.

Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants

Agata Paszkowska, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Alicja Mirecka-Rola, Monika Brzezinska, Dorota Wicher, Grażyna Kostrzewa, Jędrzej Sarnecki, Lidia Ziółkowska

Genes (Basel) 2022 Mar; 13(3): 477. Published online 2022 Mar 8. doi: 10.3390/genes13030477

PMCID:: PMC8949387

Abstract Article PDF–2.2M

Select item 887640014.

Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family

Peng Tu, Hairui Sun, Xiaohang Zhang, Qian Ran, Yihua He, Suzhen Ran

BMC Med Genomics. 2022; 15: 36. Published online 2022 Feb 24. doi: 10.1186/s12920-022-01186-z

PMCID:: PMC8876400

Abstract Article PDF–1.1M

Select item 887202815.

A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene

Roman Myasnikov, Anna Bukaeva, Olga Kulikova, Alexey Meshkov, Anna Kiseleva, Alexandra Ershova, Anna Petukhova, Mikhail Divashuk, Evgenia Zotova, Evgeniia Sotnikova, Maria Kharlap, Anastasia Zharikova, Yuri Vyatkin, Vasily Ramensky, Alexandra Abisheva, Alisa Muraveva, Sergey Koretskiy, Maria Kudryavtseva, Sergey Popov, Marina Utkina, Elena Mershina, Valentin Sinitsyn, Evgeniya Kogan, Olga Blagova, Oxana Drapkina

Genes (Basel) 2022 Feb; 13(2): 309. Published online 2022 Feb 7. doi: 10.3390/genes13020309

PMCID:: PMC8872028

Abstract Article PDF–3.1M

Select item 883286216.

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation

Mahshid Malakootian, Masoumeh Jalilian, Samira Kalayinia, Maryam Hosseini Moghadam, Mona Heidarali, Majid Haghjoo

BMC Cardiovasc Disord. 2022; 22: 37. Published online 2022 Feb 11. doi: 10.1186/s12872-022-02485-0

PMCID:: PMC8832862

Abstract Article PDF–2.2M

Select item 871348517.

Diagnostic Cardiovascular Magnetic Resonance Imaging Criteria in Noncompaction Cardiomyopathy and the Yield of Genetic Testing

Jaap I. van Waning, Kadir Caliskan, Raluca G. Chelu, Nikki van der Velde, Andrea Pezzato, Michelle Michels, Marjon A. van Slegtenhorst, Eric Boersma, Koen Nieman, Danielle Majoor-Krakauer, Alexander Hirsch

Can J Cardiol. Author manuscript; available in PMC 2021 Dec 28.

Published in final edited form as: Can J Cardiol. 2021 Mar; 37(3): 433–442. Published online 2020 May 21. doi: 10.1016/j.cjca.2020.05.021

PMCID:: PMC8713485

Abstract Article PDF–1005K

Select item 861183418.

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation

Yubi Lin, Jiana Huang, Zhiling Zhu, Zuoquan Zhang, Jianzhong Xian, Zhe Yang, Tingfeng Qin, Linxi Chen, Jingmin Huang, Yin Huang, Qiaoyun Wu, Zhenyu Hu, Xiufang Lin, Geyang Xu

Orphanet J Rare Dis. 2021; 16: 496. Published online 2021 Nov 24. doi: 10.1186/s13023-021-02112-9

PMCID:: PMC8611834

Abstract Article PDF–2.3M

Select item 826820219.

The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report

Roman Myasnikov, Andreas Brodehl, Alexey Meshkov, Olga Kulikova, Anna Kiseleva, Greta Marie Pohl, Evgeniia Sotnikova, Mikhail Divashuk, Marina Klimushina, Anastasia Zharikova, Maria Pokrovskaya, Sergey Koretskiy, Maria Kharlap, Elena Mershina, Valentin Sinitsyn, Elena Basargina, Leila Gandaeva, Vladimir Barskiy, Sergey Boytsov, Hendrik Milting, Oxana Drapkina

Int J Mol Sci. 2021 Jul; 22(13): 6775. Published online 2021 Jun 24. doi: 10.3390/ijms22136775

PMCID:: PMC8268202

Abstract Article PDF–3.4M

Select item 811061020.

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C

Tyler R. Reinoso, Maicon Landim-Vieira, Yun Shi, Jamie R. Johnston, P. Bryant Chase, Michelle S. Parvatiyar, Andrew P. Landstrom, Jose R. Pinto, Hanna J. Tadros

J Muscle Res Cell Motil. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: J Muscle Res Cell Motil. 2021 Jun; 42(2): 323–342. Published online 2020 Nov 11. doi: 10.1007/s10974-020-09592-5

PMCID:: PMC8110610

Abstract Article PDF–1.8M

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