Abstract:
BACKGROUND:Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established. OBJECTIVE:To determine the type and frequency of chromosomal abnormalities in fetuses with CHD and to analyze pregnancy outcomes of fetuses with heart abnormalities caused by different genetic factors. METHODS:A total of 362 cases of CHD were enrolled from 2009 to 2016. Detailed ultrasound and laboratory examinations, including karyotyping and CMA, were performed. Outcome was obtained from discharge summaries. RESULTS:Of the 362 fetuses, 220 were found with an isolated CHD, and 142 had CHD with extracardiac anomaly. Among these 362 fetuses, 140 were identified with a genetic cause, including 111 cases with aneuploidy, 10 cases with abnormality of chromosomal structure by karyotyping and 19 cases with pathogenic or likely pathogenic copy-number variations (CNVs) by CMA. The detection rate is close to 38.7%. Only one (identified as trisomy 18 syndrome) in 140 positive cases resulted in perinatal death, with the others being induced. The remaining 222 cases had negative results for both genetic testing and of these cases, 56 resulted in induced labor, and 77 had natural childbirth or caesarean births. The pregnancy outcome of the remaining 89 cases was uncertain. CONCLUSIONS:Karyotyping and CMA are effective and accurate prenatal genetic techniques for identifying fetal chromosomal abnormalities associated with cardiac defects, and this can assist clinical doctors to perform appropriate genetic counselling with regard to the etiology and outcome of CHD.
journal_name
Arq Bras Cardioljournal_title
Arquivos brasileiros de cardiologiaauthors
Luo S,Meng D,Li Q,Hu X,Chen Y,He C,Xie B,She S,Li Y,Fu Cdoi
10.5935/abc.20180144subject
Has Abstractpub_date
2018-10-01 00:00:00pages
571-577issue
4eissn
0066-782Xissn
1678-4170pii
S0066-782X2018005011101journal_volume
111pub_type
杂志文章abstract::Three infants with anomalous origin of left coronary artery, being two from the right pulmonary artery and one from the left, without other congenital defects, ages of 5, 15 and 3 months old, presented with early congestive heart failure due to anterolateral myocardial infarction. Anatomical characteristic was peculia...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1991-08-01 00:00:00
abstract:BACKGROUND:Stress is defined as a complicated state that related to homeostasis disturbances, over-activity of the sympathetic nervous system and hypothalamus-pituitary-adrenal axis responses. Cardiac preconditioning reduces myocardial damages. OBJECTIVE:This study was designed to assess the cardioprotective effects o...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.5935/abc.20190189
更新日期:2019-10-10 00:00:00
abstract::A 56-year-old female with unstable angina, presented an acute embolic ischaemic stroke of right medium cerebral artery during elective coronary angiography. Complete patency was achieved after an intraarterial infusion of rt-PA (60mg/60min) with important functional improvement. ...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract::We report a case of chronic nonspecific constrictive pericarditis with myocardial involvement in a 19-month-old infant. The patient underwent total pericardiectomy and had irreversible hemodynamic instability. Constrictive pericarditis is rare in childhood. It may follow several processes, most frequently an infectiou...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract::Two male black patients, 18 and 12-year-old, with mental retardation and typical elfin face, presented with severe supravalvular aortic stenosis, thus characterizing Williams's or aortic supravalvular stenosis syndrome. Both were submitted to surgical treatment of the stenosis, and are asymptomatic after a one and fou...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
abstract:PURPOSE:To evaluate the presence of risk factors (RF) for coronary disease in a group of university students (US). METHODS:We studied 123 US, 88 (71.55%) females, mean age 21 +/- 3.52 years, submitted to questionary, interview, physical examination and serum analises. Eighty six women informed about oral contraceptive...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1995-12-01 00:00:00
abstract::In order to evaluate major Doppler-Echocardiographic parameters for the diagnosis of acute cardiac allograft rejection episodes a serial of 54 Doppler Echocardiograms were performed simultaneously with endomyocardial biopsy in five patients (mean age = 40.2 y/o). Measurements included: right and left chambers diameter...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1989-09-01 00:00:00
abstract::Over the last two decades the results of randomized clinical studies, which are powerful aids for correctly assessing therapeutical strategies, have consolidated cardiological practice. In addition, scientifically interesting hypotheses have been generated through the results of epidemiological studies. Properly condu...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章,评审
doi:10.1590/s0066-782x1999000300002
更新日期:1999-03-01 00:00:00
abstract::We presented two cases of falsely elevated CK-MB due to the presence of a type 2 macro CK, showed by isoenzymes electrophoresis. The association of this CK-MB falsely elevated with some digestive diseases are frequent. Quantification of CK isoenzymes by electrophoresis could be indicated in those cases in which the cl...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1994-10-01 00:00:00
abstract::A 78-year-old patient presented with shortness of breath after falling down. Transthoracic echocardiogram showed an extensive thrombus in the right atrium (RA), extensive thrombosis of the inferior vena cava (IVC), and abdominal aortic aneurysm (AAA). A magnetic resonance confirmed the thrombosis of the RA extending t...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.5935/abc.20160143
更新日期:2016-10-01 00:00:00
abstract:BACKGROUND:In coronary artery bypass graft (CABG) surgery, the need to perform a midsternotomy has been considered a factor for the decrease in postoperative pulmonary function. OBJECTIVE:To prospectively evaluate early postoperative (PO) pulmonary function in patients submitted to off-pump CABG, comparing the convent...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2010005000137
更新日期:2010-10-01 00:00:00
abstract:OBJECTIVE:To study electrophysiological characteristics that enable the identification and ablation of sites of chagasic tachycardia. METHODS:Thirty-one patients with chronic Chagas' heart disease and sustained ventricular tachycardia (SVT) underwent electrophysiological study to map and ablate that arrhythmia. Fiftee...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x1999000400006
更新日期:1999-04-01 00:00:00
abstract:BACKGROUND:The treatment of heart failure has evolved in recent decades suggesting that survival is increasing. OBJECTIVE:To verify whether there has been improvement in the survival of patients with advanced heart failure. METHODS:We retrospectively compared the treatment and follow-up data from two cohorts of patie...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.5935/abc.20140050
更新日期:2014-05-01 00:00:00
abstract:BACKGROUND:Percutaneous intervention in patients with bioprosthetic mitral valve dysfunction is an alternative to conventional surgical treatment. OBJECTIVES:To report the first Brazilian experience with transseptal transcatheter bioprosthetic mitral valve-in-valve implantation (transseptal-TMVIV). METHODS:Patients w...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章,多中心研究
doi:10.36660/abc.20190252
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:To investigate whether oral amiodarone administered before surgery for a short period in high dose would reduce the incidence of postoperative atrial fibrillation or atrial flutter and reduces the length of hospital stay. METHODS:In the double-blind, randomized study, 93 patients were given either oral amiod...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章,随机对照试验
doi:10.1590/s0066-782x2006001600002
更新日期:2006-09-01 00:00:00
abstract:PURPOSE:To compare cardiac muscle cells width and cardiomyocyte lipofuscin pigment presence between malnourished and non-malnourished necropsied adults. METHODS:Out of 315 necropsy protocols of adults randomly chosen, those with edema, ascitis, systemic arterial hypertension, chronic liver disease, and heart disease w...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1998-11-01 00:00:00
abstract::Six days old neonate with pulmonary atresia and intact ventricular septum is reported in which a communication was established between the right ventricle and the pulmonary artery. The membraneous atresia was perforated with a special radiofrequency catheter 2F connected to a Hat 200S radiofrequency generator (Osypka)...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1995-03-01 00:00:00
abstract:BACKGROUND:Heart failure is a severe complication associated with doxorubicin (DOX) use. Strain, assessed by two-dimensional speckle tracking (2D-STE), has been shown to be useful in identifying subclinical ventricular dysfunction. OBJECTIVES:a) To investigate the role of strain in the identification of subclinical ve...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.5935/abc.20140209
更新日期:2015-04-01 00:00:00
abstract:OBJECTIVES:To analyze retrograde conduction during junctional ectopic tachycardia (JET) episodes and investigate the existence of a relationship between the presence of a retrograde block and the risk of atrioventricular block (AVB) development during radiofrequency ablation procedures in patients with nodal atrioventr...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2007000200003
更新日期:2007-02-01 00:00:00
abstract:PURPOSE:To report the result of patients treated with IV methylprednisolone divided into three groups and compare their follow-up during the last 12 years. METHODS:Seventy children with active rheumatic carditis (76 episodes) in heart failure Class III and IV (NYHA) were studied. The diagnosis was based on modified Jo...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x1999000500007
更新日期:1999-05-01 00:00:00
abstract::This is the report of a 74-year-old female patient with a history of systemic hypertension and peripheral vascular disease who presented acute coronary syndrome symptoms. Coronary angiography showed coronary arteries with no significant obstructions. Ventriculography and echocardiography showed akinesia in mid and api...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2008000300013
更新日期:2008-03-01 00:00:00
abstract::A 17-year-old woman with mitral and tricuspid valve prolapse and myxomatous degeneration presented puerperal infection by Staphylococcus aureus with clinical picture of sepsis and multiple septic embolism (right eye, left thumb, spleen, and left calf). She underwent total hysterectomy on the 10th day postdelivery and ...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1990-12-01 00:00:00
abstract:OBJECTIVE:To quantify the percentage of contractility of different myocardial segments in patients with Chagas' disease by measuring myocardial strain and to assess the differences in the radial and longitudinal ventricular contractile function in the undetermined and dilated forms of chronic chagasic cardiomyopathy as...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2005000400003
更新日期:2005-04-01 00:00:00
abstract:BACKGROUND:Determining the cardiovascular risk factors is essential for the primary and secondary prevention of circulatory system diseases. OBJECTIVE:To obtain the prevalence of cardiovascular risk factors in a population of industry workers in Brazil. METHODS:Transversal cohort study, with a sociodemographic interv...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2009000100004
更新日期:2009-01-01 00:00:00
abstract:PURPOSE:To evaluate the results of percutaneous balloon valvuloplasty (PBV) for membranous subaortic stenosis (MSAS). METHODS:Seven patients with MSAS were submitted to PBV using the retrograde approach. Hemodynamic and angiographic studies were performed before and after the procedure. The balloon/annulus ratio varie...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 临床试验,杂志文章
doi:
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVE:To evaluate cardiac arrhythmias during and after pregnancy in women with Chagas' disease without apparent heart disease using dynamic electrocardiography. METHODS:Twenty pregnant women with Chagas' disease without apparent heart disease aged 19 to 42 years (26.96 +/- 3.6) and a control group of 20 non-chagas...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:2002-07-01 00:00:00
abstract:BACKGROUND:Data from over 4 decades have reported a higher incidence of silent infarction among patients with diabetes mellitus (DM), but recent publications have shown conflicting results regarding the correlation between DM and presence of pain in patients with acute coronary syndromes (ACS). OBJECTIVE:Our primary o...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.5935/abc.20140106
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the effectiveness of prophylactic intra-aortic balloon (IAB) in elective myocardial revascularization surgery (MRS), to prevent trans or post-operative infarction and reduce intra-hospital mortality in patients with low left ventricular ejection fraction. METHODS:Using a cohort study model, 239 p...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2006000200004
更新日期:2006-02-01 00:00:00
abstract:BACKGROUND:Recent MADIT II and SCD-HeFT trials have led to an expansion of indications for use of prophylactic Implantable Cardioverter Defibrillator (ICD) in patients with severe left-ventricular impairment. This therapy has not been fully adopted in our health care system, mainly due to its high cost. OBJECTIVE:To a...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2008000500006
更新日期:2008-05-01 00:00:00
abstract:OBJECTIVE:Based on the analysis of indicators which express the rationale of the actions of the program, we developed a cross-sectional study to assess the performance of a Family Healthcare Team as regards the care provided to individuals with arterial hypertension living in a small municipality. METHODS:The study ca...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2006001700015
更新日期:2006-10-01 00:00:00