Abstract:
:Beginning with a patient presenting with an atrial septal defect (ASD) of the secundum type, the genealogy was identified in four affected individuals who belonged to three successive generations of the same family. The defects were visually confirmed in all individuals and were found to be anatomically similar. No other congenital malformations were present in these individuals. The genealogy was identified in 1972, when ASD recurred in two generations, and it was concluded that the mechanism of transmission was autosomal recessive. The fifth individual, identified 21 years later, and having an anomaly identical to that of the others, was the child of a couple who had no consaguinity and whose mother was a member of the previously studied genealogy. Considering the absence of phenotype in the parents and the rarity of the ASD gene in the general population, the occurrence of the uniparental disomy for this family nucleus, and the same autosomal recessive mechanism of transmission by this affected individual is possible. This study reports the familial occurrence of ASD by genetic mechanisms of transmission, emphasizing the necessity for genetic-clinical studies in members of the familial nucleus in order to detect new carriers, who usually are asymptomatic, thereby allowing for early and adequate treatment of individuals who may be affected.
journal_name
Arq Bras Cardioljournal_title
Arquivos brasileiros de cardiologiaauthors
Ferreira C,Farah LM,Póvoa RM,Luna Filho B,Costa A,Ferreira Filho Cdoi
10.1590/s0066-782x1999000800009subject
Has Abstractpub_date
1999-08-01 00:00:00pages
211-8issue
2eissn
0066-782Xissn
1678-4170journal_volume
73pub_type
杂志文章abstract::[This corrects the article doi: 10.5935/abc.20170140]. ...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章,已发布勘误
doi:10.5935/abc.20180213
更新日期:2018-10-01 00:00:00
abstract::The aim of this paper is to review clinical and laboratory features of this unusual pathology and its complications, indicating transcatheter embolization as a first choice for its management. Our case report is of a seven year-old child, with complex pulmonary arteriovenous fistula of the anterior segment of right su...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章,评审
doi:
更新日期:1989-07-01 00:00:00
abstract:Background::In the Systolic Heart Failure Treatment With the If Inhibitor Ivabradine Trial (SHIFT), heart rate (HR) reduction with ivabradine was associated with improved survival and reduced hospitalizations in patients with heart failure (HF). The mechanisms by which elevated HR increases mortality are not fully unde...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章,随机对照试验
doi:10.5935/abc.20160166
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:There is few data evaluating the prevalence and influence of adverse psychological characteristics on the prognosis of individuals submitted to percutaneous coronary interventions. No study has addressed this issue in Brazil. OBJECTIVE:To investigate the prevalence of depression, anxiety, psychological stre...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2011005000104
更新日期:2011-10-01 00:00:00
abstract::We describe a rare case of permanent pacemaker implantation in a pregnant woman with rheumatic mitral valve disease previously undergoing percutaneous balloon valvuloplasty. She presented symptomatic advanced atrioventricular block of non-reversible cause and manifest in the third trimester of gestation. ...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2009000500017
更新日期:2009-05-01 00:00:00
abstract:PURPOSE:The decision of stopping cardiopulmonary resuscitation (CPR) in patients brought to emergency room in arrest remains a challenge. Such decision is even more difficult when someone is brought by bystanders, after an acute loss of consciousness without any out-of-hospital care. To evaluate the probability of surv...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1996-11-01 00:00:00
abstract:OBJECTIVE:To evaluate the association between cardiovascular risk factors and the anthropometric values--body mass index (BMI) and waist circumference (WC). METHODS:It was studied 231 employees of Federal University of Viçosa, Brazil, 54.1% of them were men (21-76 years old). Glycemia, total cholesterol, LDL, HDL, tri...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2006001900008
更新日期:2006-12-01 00:00:00
abstract:PURPOSE:To evaluate the efficiency of a non-surgical treatment of the femoral false aneurysm following cardiac catheterization using the color Doppler echocardiography monitorization. METHODS:From August 1993 to October 1996, 17 patients were evaluated by the color Doppler echocardiography, 7 women and 10 men, between...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1997-06-01 00:00:00
abstract:BACKGROUND:Little is known, especially in our country, about the influence of health insurance plans on the long term outcome of patients after acute myocardial infarction (AMI). OBJECTIVE:To assess the outcome of patients with AMI who are covered by the National Health System (SUS) or other health insurance plans. M...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2008001800004
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:The 22q11.2 deletion syndrome is the most frequent human microdeletion syndrome. The phenotype is highly variable, being characterized by conotruncal heart defect, facial dysmorphisms, velopharyngeal insufficiency, learning difficulties and mental retardation. OBJECTIVE:The objective of this study was to in...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2009000400010
更新日期:2009-04-01 00:00:00
abstract:BACKGROUND:The standardization of images used in Medicine in 1993 was performed using the DICOM (Digital Imaging and Communications in Medicine) standard. Several tests use this standard and it is increasingly necessary to design software applications capable of handling this type of image; however, these software appl...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2012005000089
更新日期:2012-10-01 00:00:00
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:PURPOSE:To study the quantitative and qualitative aspects of junctional rhythm (JR) during radiofrequency (RF) catheter ablation of slow pathway in atrioventricular nodal reentrant tachycardia. METHODS:Twenty five patients, 5 males, ages ranging from 15 to 76 years, with recurrent atrioventricular nodal reentrant tach...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 临床试验,杂志文章
doi:
更新日期:1995-07-01 00:00:00
abstract:OBJECTIVE:To evaluate the effects of swimming on pulmonary water content in animals with heart failure (HF) after myocardial infarction (MI).
METHODS:After coronary occlusion, MI size 20%
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2006001400008
更新日期:2006-07-01 00:00:00
abstract:BACKGROUND:Serum cystatin C (s-CC), an endogenous marker of kidney function, has also been proposed as a cardiovascular risk marker. However, it is unknown whether it is a direct marker of atherosclerosis, independently of kidney function. OBJECTIVE:The aim of this study was to correlate s-CC with two surrogate marker...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2012005000083
更新日期:2012-10-01 00:00:00
abstract::Becker muscular dystrophy (BMD) integrates dystrophy occurring due to genetic mutations that express the dystrophin protein in chromosome X. The onset of neuromuscular symptoms usually precedes the impairment of cardiac function, and may conversely happen by heart failure (HF). Physical training is well established in...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2011001500016
更新日期:2011-12-01 00:00:00
abstract:OBJECTIVE:To determine the prevalence of hyperhomocystinemia in patients with acute ischemic syndrome of the unstable angina type. METHODS:We prospectively studied 46 patients (24 females) with unstable angina and 46 control patients (19 males), paired by sex and age, blinded to the laboratory data. Details of diets, ...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 临床试验,杂志文章
doi:10.1590/s0066-782x2002001100008
更新日期:2002-08-01 00:00:00
abstract::Constrictive chronic pericarditis in a 13-year-old male patient was previously treated as chronic hepatitis for seven years, with the use of furosemide and spironolactone. Investigation for diagnosis included chest radiography, echo-doppler-cardiography, thoracocentesis with pleural biopsy and computerized tomography ...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1991-12-01 00:00:00
abstract:PURPOSE:The aim of this study was to evaluate the cardiovascular outcome in patients with the undetermined form of Chagas' disease and whether or not it is related to the infectious disease in the long-term. METHODS:One hundred and sixty patients were prospectively followed-up at three month intervals for up to 177 mo...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x1998000700005
更新日期:1998-07-01 00:00:00
abstract::A 19-years-old female with a primary right atrial angiosarcoma partially obstructing the tricuspid valve, developed severe hypoxemia due to right-to-left shunting through a patient foramen ovale. This is the first report of such clinical situation with this type of tumor. A complete resection of the tumor was attempte...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章,评审
doi:
更新日期:1992-12-01 00:00:00
abstract:OBJECTIVE:To study the clinical pattern of subaortic stenosis associated with perimembranous ventricular septal defect. METHODS:From January 1979 to June 2000, 36 children with perimembranous ventricular septal defect and fixed subaortic stenosis were followed-up regarding anatomic characteristics, evolvement, and cli...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2005000200002
更新日期:2005-02-01 00:00:00
abstract:PURPOSE:To study mononuclear magnesium and serum cations (Na, K and Mg) in elderly hypertensive patients treated with hydrochlorothiazide during 90 days. PATIENTS AND METHODS:15 elderly hypertensive patients treated with hydrochlorothiazide, 25 mg/day or placebo. A method of freezing produced total lysis of the cells;...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 临床试验,杂志文章
doi:
更新日期:1991-06-01 00:00:00
abstract::A 32 year old female patient, documented clinically and echocardiographically to have a competent prolapse of the mitral valve (MVP), developed a sudden ischemic cerebrovascular accident (CVA), suggestive of embolism. There were no predisposing factors to cerebrovascular disease, except for past use of contraceptive p...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:
更新日期:1989-01-01 00:00:00
abstract::We report the case of a 31-year old woman presenting with atypical rheumatic disease in the 28th week of the second pregnancy. Questions related to prevention of the disease and its treatment during the pregnancy-puerperium cycle are discussed. ...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2009000400017
更新日期:2009-04-01 00:00:00
abstract:BACKGROUND:Myocardial performance index (MPI), demonstrates both systolic and diastolic functions of the left ventricle. Presystolic wave (PSW) is frequently detected on Doppler examination of the left ventricular outflow tract and possible mechanism of PSW is impaired LV compliance and left ventricular stiffness. OBJ...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.5935/abc.20190134
更新日期:2019-07-29 00:00:00
abstract:BACKGROUND:Patients with metabolic syndrome (MetS) are at high coronary risk and beta-cell dysfunction or insulin resistance might predict an additional risk for early cardiovascular events. OBJECTIVE:This study aimed to evaluate early glucometabolic alterations in patients with MetS, but without previously known type...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2009000200004
更新日期:2009-02-01 00:00:00
abstract:OBJECTIVE:To evaluate the characteristics of the patients receiving medical care in the Ambulatory of Hypertension of the Emergency Department, Division of Cardiology, and in the Emergency Unit of the Clinical Hospital of the Ribeirão Preto Medical School. METHODS:Using a protocol, we compared the care of the same hyp...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章,多中心研究
doi:10.1590/s0066-782x2002000200003
更新日期:2002-02-01 00:00:00
abstract:BACKGROUND:Few data are available on diastolic function in patients with aortic stenosis (AOS) with indication of surgical treatment. A potential correlation between biomarkers and diastolic function has not been established. OBJECTIVE:The aim of our study was to evaluate diastolic function in patients with AOS waitin...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.5935/abc.20130076
更新日期:2013-05-01 00:00:00
abstract:OBJECTIVE:To assess the impact of nutritional attention on the lipid profile and nutritional status of hypercholesterolemic patients attended in health centers of Belo Horizonte. METHODS:Using nutritional attendance patient record cards from two health units, the evolution of the lipid profile and the nutritional stat...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.1590/s0066-782x2003000200005
更新日期:2003-02-01 00:00:00
abstract:BACKGROUND:Cardiac tumors are rare, mostly benign with high embolic potential. OBJECTIVES:To correlate the histological type of cardiac masses with their embolic potential, implantation site and long term follow up in patients undergoing surgery. METHODS:Between January 1986 and December 2011, we retrospectively anal...
journal_title:Arquivos brasileiros de cardiologia
pub_type: 杂志文章
doi:10.5935/abc.20140096
更新日期:2014-07-01 00:00:00