Abstract:
BACKGROUND:The correlations between genotype and phenotype in hypertrophic cardiomyopathy (HCM) have not been established. Mutation of α-actin gene (ACTC1) is a rare cause of HCM. This study aimed to explore novel genotype-phenotype correlations in HCM patients with the variants in ACTC1 and myosin-binding protein (MYBPC3) genes in three unrelated Chinese families. METHODS:Clinical, electrocardiographic, and echocardiographic examinations were performed in three Han pedigrees. Exon and boarding intron analysis of 96 cardio-disease-related genes was performed using second-generation sequencing on three probands. The candidate variants were validated in 14 available family members and 300 unrelated healthy controls by bi-directional Sanger sequencing. The pathogenicity and conservation were calculated using MutationTaster, PolyPhen-2, SIFT, and Clustal X. Pathogenicity classification of the variants was based on American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS:Nine members fulfilled diagnostic criteria for HCM with clinical characteristics, electrocardiographic, and echocardiographic findings. Two candidate variants in ACTC1 p.Asp26Asn (ACTC1-D26N) and MYBPC3 p.Arg215Cys (MYBPC3-R215C) were identified in patients. Only ACTC1-D26N strongly co-segregated with the HCM phenotype. Seven patients who harbored variant ACTC-D26N only were diagnosed with non-obstructive HCM, and four of these patients exhibited a triphasic left ventricular (LV) filling pattern. Two patients carrying both ACTC1-D26N and MYBPC3-R215C variants showed a higher LV outflow tract pressure gradient. Bioinformatics analysis revealed that the two variants were deleterious and highly conserved across species. According to ACMG guidelines, ACTC1-D26N is classified as a likely pathogenic mutation. The second variation MYBPC3-R215C may function as a genetic modifier, which remains uncertain here. CONCLUSIONS:Novel p.(Asp26Asn) mutation of ACTC1 was associated with HCM phenotype, and the penetrance is extremely high (∼81.8%) in adults. The second variation, MYBPC3-R215C may function as a genetic modifier, which remains uncertain here.
journal_name
J Cardioljournal_title
Journal of cardiologyauthors
Yang QL,Bian YY,Wang B,Zuo L,Zhou MY,Shao H,Zhang YM,Liu LWdoi
10.1016/j.jjcc.2018.09.005subject
Has Abstractpub_date
2019-05-01 00:00:00pages
438-444issue
5eissn
0914-5087issn
1876-4738pii
S0914-5087(18)30328-9journal_volume
73pub_type
杂志文章abstract:OBJECTIVES:The aim of this study was to assess the effect of eicosapentaenoic acid (EPA) on peri-procedural (type IVa) myocardial infarction (MI) following elective percutaneous coronary intervention (PCI). METHODS AND RESULTS:We analyzed data from 165 of 178 consecutive patients with stable angina pectoris who underw...
journal_title:Journal of cardiology
pub_type: 临床试验,杂志文章
doi:10.1016/j.jjcc.2014.09.004
更新日期:2015-08-01 00:00:00
abstract::This study evaluated the effect of physical exercise training on graft patency after aortocoronary bypass grafting (ACBG). Patients who underwent ACBG were randomized into the training (17 patients, 43 grafts) and nontraining groups (18 patients, 45 grafts). Tissue plasminogen activator (TPA) antigen, TPA activity, pl...
journal_title:Journal of cardiology
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1993-01-01 00:00:00
abstract:BACKGROUND:Atrial fibrillation (AF) and chronic kidney disease (CKD) are closely related. The present study aimed to evaluate the association between estimated glomerular filtration rate (eGFR) and outcomes after cryoballoon catheter ablation for AF. METHODS:We included a total of 110 patients (64.0±10.1 years, 64% me...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2016.07.008
更新日期:2017-01-01 00:00:00
abstract:PURPOSE:Cholinergic nerve plays an important role in the induction and maintenance of atrial fibrillation (AF). Cholinergic innervation at supraventricular tissues is considered to be the histological basis and intervention-associated target site for the arrhythmia; however, the distribution of cholinergic nerve in sup...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2012.12.003
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:Although the occurrence of no-reflow during percutaneous coronary intervention (PCI) has been shown to be associated with worse short- and long-term clinical outcomes, the clinical relevance of preventing flow deterioration by using the filter-based distal protection devices (DPDs) is controversial. We inves...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2015.06.015
更新日期:2016-05-01 00:00:00
abstract::The clinical benefit of cholesterol-lowering treatment is unknown in the Japanese elderly in whom the prevalence of morbidity and mortality related to coronary artery disease are known to be low. To evaluate the efficacy of cholesterol-lowering treatment with 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase i...
journal_title:Journal of cardiology
pub_type: 临床试验,杂志文章
doi:
更新日期:2000-02-01 00:00:00
abstract::Atrial fibrillation (AF) causes severe cardiac dysrhythmia among patients with cardiovascular diseases. AF increases the risk of stroke and heart failure and is a growing public health concern. AF is also associated with various disease conditions such as hypertension, coronary artery disease, aging, and diabetes mell...
journal_title:Journal of cardiology
pub_type: 杂志文章,评审
doi:10.1016/j.jjcc.2019.05.018
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVES:The standard deviation of the washout rate in dipyridamole stress thallium-201 myocardial single photon emission computed tomography (SPECT) was correlated with the severity of coronary artery lesions and the viability of ischemic myocardium to provide a new quantitative parameter for judging indications for...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2000-11-01 00:00:00
abstract::A 66-year-old male patient with mitral regurgitation and atrial fibrillation underwent mitral valvuloplasty with a modified maze procedure. Follow-up echocardiography performed on the 4th postoperative day revealed a high echoic mass of 6.7 x 3.0 cm which appeared continuous to the left atrial wall and protruded into ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:Third-generation drug-eluting-stents (3rd DES) may improve coronary arterial healing and reduce neoatherosclerosis formation. We evaluated post-stent findings and subsequent vascular healing of 3rd DES by comparing to second-generation drug-eluting-stents (2nd DES) at intermediate-term follow-up using optica...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2020.05.013
更新日期:2020-11-01 00:00:00
abstract::Despite significant advances in pharmacological treatments, pulmonary arterial hypertension remains an incurable disease with an unreasonably high morbidity and mortality. Although specific pharmacotherapies have shifted the survival curves of patients and improved exercise endurance as well as quality of life, it is ...
journal_title:Journal of cardiology
pub_type: 杂志文章,评审
doi:10.1016/j.jjcc.2015.02.001
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:Catheter ablation has become a standard treatment strategy for drug-resistant symptomatic non-valvular atrial fibrillation (NVAF). Periprocedural administration of uninterrupted warfarin could reduce the risk of thromboembolic complications. However, only a few retrospective studies have reported on the effi...
journal_title:Journal of cardiology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jjcc.2015.10.003
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVES:To assess the clinical significance of iodine-123 beta-methyl-p-iodophenyl-pentadecanoic acid(BMIPP) single photon emission computed tomography(SPECT), the predictive value of BMIPP imaging in patients with angina pectoris was evaluated. METHODS:One hundred seventy-four patients who underwent BMIPP imaging ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2001-09-01 00:00:00
abstract::The relationship between myocardial contrast echocardiography and improvement of the left ventricular wall motion was studied as an indicator of the prognosis of patients with acute myocardial infarction. Ten patients with acute anterior myocardial infarction who demonstrated successful reperfusion (improved to TIMI g...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1995-03-01 00:00:00
abstract:BACKGROUND AND PURPOSE:CYP2C19*2 loss-of-function allele in Caucasians may be associated with wide interindividual variability in platelet response to clopidogrel, and the incidence of gene mutation varies with racial differences, especially between Asians and Caucasians. The aim was to examine the impact of CYP2C19 ge...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2010.10.007
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND:An admission to the intensive care unit (ICU) after developing acute myocardial infarction (AMI) has been the standard of care and is recommended by professional societies. However, evidence that justifies its use, such as a reduction in mortality, has never been shown despite the associated financial burden...
journal_title:Journal of cardiology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jjcc.2019.01.007
更新日期:2019-08-01 00:00:00
abstract::A 66-year-old man was admitted with distal edema of his right leg. He had undergone radical prostatectomy and pelvic lymphadenectomy for prostatic cancer 23 days previously. Abdominal computed tomography (CT) showed a lymphocyst (4.5 x 3.0 cm) along the right pelvic wall compressing the right external iliac vein. CT w...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2005-06-01 00:00:00
abstract::A 76-year-old female had undergone implantation of a single chamber pacemaker for sick sinus syndrome 20 years previously. She developed chronic atrial fibrillation and required repeated admission due to congestive heart failure. She had significant mitral and tricuspid regurgitation. Paradoxical movement of the intra...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2002-04-01 00:00:00
abstract:OBJECTIVES:Treatment of cardiac failure due to non-ischemic cardiomyopathy by left ventriculoplasty using partial left ventriculectomy (Batista operation) or septal anterior ventricular exclusion was evaluated. METHODS:Left ventriculoplasty was performed in 70 patients (59 men and 11 women with a mean age of 51 years)...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND:Early graft failure can affect the short- and long-term outcomes of patients undergoing coronary bypass grafting surgery (CABG). The aim of our study was to explore the predictive value of transit-time flow measurement (TTFM) parameters for early graft failure (before discharge) after CABG in different coron...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2020.09.003
更新日期:2021-02-01 00:00:00
abstract:OBJECTIVES:This study investigated retardation of abnormal uptake of iodine-123-beta-methyl-p-iodophenyl-pentadecanoic acid(BMIPP) scintigraphy in patients with vasospastic angina. METHODS:Twenty-three patients with vasospastic angina showed abnormal uptake of BMIPP before medical treatment and had coronary vasospasm ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2001-07-01 00:00:00
abstract:BACKGROUND:Apixaban, one of the non-vitamin K antagonist oral anticoagulants, was reported to be effective and safe in stroke prevention in patients with atrial fibrillation (AF) based on the global randomized clinical trial, but data are limited on the efficacy and safety of apixaban in Japanese elderly patients. MET...
journal_title:Journal of cardiology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jjcc.2015.12.006
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Assessment of deterioration of regional wall motion by echocardiography is not only subjective but also features difficulties with interobserver agreement. Progress in digital communication technology has made it possible to send video images from a distant location via the Internet. OBJECTIVES:The possibil...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2007-02-01 00:00:00
abstract::A 47-year-old man with heterozygous familial hypercholesterolemia was followed up by coronary angiography for 9 years. During these 9 years, he experienced inferior myocardial infarction twice, at segment 1 of the right coronary artery. A coronary atherosclerotic lesion (50% stenosis) was also present at segment 6 of ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1997-09-01 00:00:00
abstract::The efficacy of catheter intervention for adult congenital heart diseases was evaluated in 27 patients aged 20 to 52 years (mean age at catheterization 25 +/- 7 years) from 1986 to 1996. Four patients had pulmonary valve stenosis, four had aortic valve stenosis, three had coarctation of the aorta, 10 had pulmonary art...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1998-06-01 00:00:00
abstract:OBJECTIVES:Nonvalvular atrial fibrillation is a known risk factor for thromboembolism. This study investigated the use of coagulation markers to predict thromboembolism in nonvalvular atrial fibrillation patients. METHODS:One hundred thirty nonvalvular atrial fibrillation patients (104 males, 26 females, mean age 63.7...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2004-12-01 00:00:00
abstract:BACKGROUND:Despite the frequent use of spectral analysis of intravascular ultrasound radiofrequency data (VH(®) IVUS) in clinical studies, the assessment for reproducibility using this with high frequency IVUS remains unexplored. PURPOSE:The aim of this study was to examine the reproducibility of VH IVUS using 45-MHz ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2014.05.004
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:Along with the global aging, the number of geriatric patients with acute myocardial infarction (AMI) has been increasing. However, temporal trends in the prevalence and outcomes of geriatric patients with AMI, with a special reference to heart failure (HF) on admission, remain to be elucidated. METHODS:The ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2019.10.006
更新日期:2020-05-01 00:00:00
abstract::To study the relations of central venous flow velocity (VFV) to cardiac pump function, hepatic venous flow velocity was recorded using Doppler echocardiography in six normal subjects and 47 patients with heart disease, of whom 28 had sinus rhythm and 19, atrial fibrillation. The area under the VFV profile during systo...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1988-09-01 00:00:00
abstract::The involvement of endothelin, an important endogenous vascular constrictor, and prostanoids in coronary vasospasm was evaluated in 14 patients with and 12 patients without coronary vasospasm who had normal coronary angiograms. Coronary vasospasm was defined as a total or subtotal occlusion or diffuse and intense cons...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00