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Items: 1 to 20 of 27

1.
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
ArticlePDF–1.1M
2.
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo
Mol Genet Genomic Med. 2023 Jul; 11(7): e2190. Published online 2023 Apr 25. doi: 10.1002/mgg3.2190
PMCID:
PMC10337275
ArticlePDF–1.1M
3.
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
ArticlePDF–2.3M
4.
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Al-Hassnan, Abdullah Alwadai, Giovanni Zifarelli, Ehsan G. Karimiani, Sahar Sedighzadeh, Amir Bahreini, Nayereh Nouri, Merlene Peter, Kyoko Watanabe, Hermine A. van Duyvenvoorde, Claudia A. L. Ruivenkamp, Aalbertine K. K. Teunissen, Arend D. J. Ten Harkel, Sjoerd G. van Duinen, Monique C. Haak, Carlos E. Prada, Gijs W. E. Santen, Reza Maroofian
Eur J Hum Genet. 2023 Jan; 31(1): 97–104. Published online 2022 Oct 17. doi: 10.1038/s41431-022-01204-9
PMCID:
PMC9823012
ArticlePDF–2.2M
5.
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
ArticlePDF–1.3M
6.
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
ArticlePDF–668K
7.
Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection
Ran Tamiya, Yuki Saito, Daisuke Fukamachi, Koichi Nagashima, Yoshihiro Aizawa, Kimie Ohkubo, Takumi Hatta, Akira Sezai, Masashi Tanaka, Taisuke Ishikawa, Naomasa Makita, Naokata Sumitomo, Yasuo Okumura
ESC Heart Fail. 2020 Jun; 7(3): 1338–1343. Published online 2020 Mar 6. doi: 10.1002/ehf2.12667
PMCID:
PMC7261580
ArticlePDF–8.9M
8.
Late diagnosis of Barth syndrome in a 39‐year‐old patient with non‐compaction cardiomyopathy and neutropenia
Andreas Seitz, Annely Hinck, Raffi Bekeredjian, Udo Sechtem
ESC Heart Fail. 2020 Apr; 7(2): 697–701. Published online 2020 Jan 22. doi: 10.1002/ehf2.12588
PMCID:
PMC7160505
ArticlePDF–381K
9.
Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy
Shijie Li, Ce Zhang, Nana Liu, Hui Bai, Cuihong Hou, Jielin Pu
Mol Genet Genomic Med. 2019 Sep; 7(9): e874. Published online 2019 Aug 9. doi: 10.1002/mgg3.874
PMCID:
PMC6732340
ArticlePDF–550K
10.
A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
Jun Guo, Zheng Li, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Suyun Qian, Jiansheng Zeng, Hengmiao Gao, Wei Li
Mol Genet Genomic Med. 2019 Aug; 7(8): e828. Published online 2019 Jul 3. doi: 10.1002/mgg3.828
PMCID:
PMC6687865
ArticlePDF–599K
11.
Titin‐truncating variants are associated with heart failure events in patients with left ventricular non‐compaction cardiomyopathy
Shijie Li, Ce Zhang, Nana Liu, Hui Bai, Cuihong Hou, Lei Song, Jielin Pu
Clin Cardiol. 2019 May; 42(5): 530–535. Published online 2019 Apr 16. doi: 10.1002/clc.23172
PMCID:
PMC6523007
ArticlePDF–821K
12.
Genotype‐Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy
Shijie Li, Ce Zhang, Nana Liu, Hui Bai, Cuihong Hou, Jizheng Wang, Lei Song, Jielin Pu
J Am Heart Assoc. 2018 Oct 16; 7(20): e009910. Published online 2018 Oct 10. doi: 10.1161/JAHA.118.009910
PMCID:
PMC6474962
ArticlePDF–1.2M
13.
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
ArticlePDF–869K
14.
Neddylation mediates ventricular chamber maturation through repression of Hippo signaling
Jianqiu Zou, Wenxia Ma, Jie Li, Rodney Littlejohn, Hongyi Zhou, Il-man Kim, David J. R. Fulton, Weiqin Chen, Neal L. Weintraub, Jiliang Zhou, Huabo Su
Proc Natl Acad Sci U S A. 2018 Apr 24; 115(17): E4101–E4110. Published online 2018 Apr 9. doi: 10.1073/pnas.1719309115
PMCID:
PMC5924905
ArticlePDF–2.3M
15.
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
ArticlePDF–2.0M
16.
Identification of cardiac hemo-vascular precursors and their requirement of sphingosine-1-phosphate receptor 1 for heart development
Yan Hu, Brian C. Belyea, Minghong Li, Joachim R. Göthert, R. Ariel Gomez, Maria Luisa S. Sequeira-Lopez
Sci Rep. 2017; 7: 45205. Published online 2017 Mar 24. doi: 10.1038/srep45205
PMCID:
PMC5364549
ArticlePDF–2.6M
17.
Electrocardiographic findings in correlation to magnetic resonance imaging patterns in African patients with isolated ventricular noncompaction
Salwa Akhbour, Ibtissam Fellat, Nada Fennich, Salima Abdelali, Nawal Doghmi, Fedoua Ellouali, Mohammed Cherti
Anatol J Cardiol. 2015 Jul; 15(7): 550–555. Published online 2014 Jul 11. doi: 10.5152/akd.2014.5577
PMCID:
PMC5337034
ArticlePDF–86K
18.
Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort
Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang, Lijun Fu
Orphanet J Rare Dis. 2017; 12: 26. Published online 2017 Feb 10. doi: 10.1186/s13023-016-0562-4
PMCID:
PMC5301434
ArticlePDF–1.6M
19.
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction
Robert Hastings, Carin P. de Villiers, Charlotte Hooper, Liz Ormondroyd, Alistair Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J.L. Knight, Jenny C. Taylor, Kate L. Thomson, Linda Arnold, Spyros D. Chatziefthimiou, Petr V. Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich
Circ Cardiovasc Genet. 2016 Oct; 9(5): 426–435. Published online 2016 Oct 18. doi: 10.1161/CIRCGENETICS.116.001431
PMCID:
PMC5068189
ArticlePDF–800K
20.
Novel Phenotype–Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing
Wei Wu, Chao-Xia Lu, Yi-Ning Wang, Fang Liu, Wei Chen, Yong-Tai Liu, Ye-Chen Han, Jian Cao, Shu-Yang Zhang, Xue Zhang
J Am Heart Assoc. 2015 Jul; 4(7): e001879. Published online 2015 Jul 10. doi: 10.1161/JAHA.115.001879
PMCID:
PMC4608072
ArticlePDF–1007K

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