Abstract:
:Left ventricular non-compaction (LVNC) is genetically heterogeneous. It has been previously shown that LVNC is associated with defects in TAZ, DNTA, LDB3, YWHAE, MIB1, PRDM16, and sarcomeric genes. This study was aimed to investigate sarcomeric gene mutations in a Chinese population with LVNC. From 2004 to 2010, 57 unrelated Chinese patients with LVNC were recruited at Fuwai Hospital, Beijing, China. Detailed clinical evaluation was performed on the probands and available family members. DNA samples isolated from the peripheral blood of the index cases were screened for 10 sarcomeric genes, including MYH7, MYBPC3, MYL2, MYL3, MYH6, TNNC1, TNNT2, TNNI3, TPM1, and ACTC1. Seven heterozygous mutations (6 missense and 1 deletion) were identified in 7 (12 %) of the patients. These mutations were distributed among 4 genes, 4 in MYH7, and 1 each in ACTC1, TNNT2, and TPM1. Six of the mutations were novel and another one was reported previously. All mutations affected conserved amino acid residues and were predicted to alter the structure of the proteins by in silico analysis. No significant difference was observed between mutation-positive and mutation-negative patients with respect to clinical characteristics at baseline and mortality during follow-up. In conclusion, our study indicates that sarcomeric gene mutations are uncommon causes of LVNC in Chinese patients and genetic background of the disease may be divergent among the different races.
journal_name
Heart Vesselsjournal_title
Heart and vesselsauthors
Tian T,Wang J,Wang H,Sun K,Wang Y,Jia L,Zou Y,Hui R,Zhou X,Song Ldoi
10.1007/s00380-014-0503-xsubject
Has Abstractpub_date
2015-03-01 00:00:00pages
258-64issue
2eissn
0910-8327issn
1615-2573journal_volume
30pub_type
杂志文章abstract::The aim of the study was to evaluate systemic right ventricular (RV) dyssynchrony in patients with congenitally corrected transposition of the great arteries (CCTGA) and transposition of the great arteries (TGA) with New York Heart Association functional class (NYHA FC) < III. We used cardiac magnetic resonance (CMR) ...
journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-018-1144-2
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journal_title:Heart and vessels
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-007-1023-8
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-010-0095-z
更新日期:2011-09-01 00:00:00
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journal_title:Heart and vessels
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doi:10.1007/s00380-019-01371-8
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journal_title:Heart and vessels
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-015-0641-9
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/BF01745093
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journal_title:Heart and vessels
pub_type: 杂志文章
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journal_title:Heart and vessels
pub_type: 杂志文章
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更新日期:2019-12-01 00:00:00
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/BF02058524
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s003800070042
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-018-1260-z
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-006-0947-8
更新日期:2007-03-01 00:00:00
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-003-0709-9
更新日期:2003-09-01 00:00:00
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-018-1248-8
更新日期:2019-02-01 00:00:00
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-017-1017-0
更新日期:2017-12-01 00:00:00
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/BF01746067
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journal_title:Heart and vessels
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pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:Heart and vessels
pub_type: 杂志文章
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journal_title:Heart and vessels
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-006-0968-3
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s003800200018
更新日期:2002-07-01 00:00:00
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journal_title:Heart and vessels
pub_type: 杂志文章
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journal_title:Heart and vessels
pub_type: 杂志文章
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更新日期:2020-03-01 00:00:00
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journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-005-0830-z
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abstract::It is well known that silent myocardial ischemia (SMI) often complicates patients with cerebral infarction and that stroke patients often die of ischemic heart disease. Therefore, it is considered important to treat myocardial ischemia in stroke patients. This study investigated SMI complicating Japanese patients with...
journal_title:Heart and vessels
pub_type: 杂志文章
doi:10.1007/s00380-011-0210-9
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