Abstract:
:The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt-Oram syndrome patients and should be added to the list of possible associated cardiac defects.
journal_name
Cardiol Youngjournal_title
Cardiology in the youngauthors
Vianna CB,Miura N,Pereira AC,Jatene MBdoi
10.1017/S1047951111000072subject
Has Abstractpub_date
2011-06-01 00:00:00pages
351-3issue
3eissn
1047-9511issn
1467-1107pii
S1047951111000072journal_volume
21pub_type
杂志文章abstract::Occlusion using coils is now the treatment of choice for closure of the patent arterial duct. The DuctOcclud (pfm AG, Cologne, Germany) device is a relatively new retrievable coil for such trans-catheter closure. This study expands on previously reported experience with this device, summarizes the advantages of the de...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951102000793
更新日期:2002-10-01 00:00:00
abstract:BACKGROUND:Although some prior studies have provided evidence to question the historical belief that pulmonary vascular resistance index ⩾6 Wood Units×m2 should be a contraindication to heart transplantation in children, no national analyses specific to the modern area have addressed this question. METHODS:Data were a...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001796
更新日期:2015-08-01 00:00:00
abstract:BACKGROUND:CHDs form a complex and heterogeneous group of clinical entities, with high morbidity and mortality. With the advancement of surgical and invasive techniques and clinical treatment, the survival of these patients has increased significantly, and there are reports of a high prevalence of ocular abnormalities ...
journal_title:Cardiology in the young
pub_type: 杂志文章,meta分析,评审
doi:10.1017/S104795111500044X
更新日期:2016-03-01 00:00:00
abstract::We report a case of unroofed coronary sinus not associated with the persistent left superior vena cava. Definite diagnosis of the unroofed coronary sinus was obtained by trans-oesophageal echocardiography, which revealed the unroofed portion with left-to-right shunt. Real-time three-dimensional trans-oesophageal echoc...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113002400
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVES:There is no consensus or theoretical explanation regarding the optimal location for the fenestration during the Fontan operation. We investigated the impact of the location of the fenestration on Fontan haemodynamics using a three-dimensional Fontan model in various physiological conditions. METHODS:A three...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117000099
更新日期:2017-09-01 00:00:00
abstract::Purpose The aim of this study was to determine whether the exercise tolerance test can provide diagnostic and prognostic information regarding children and young adults and help predict outcome. METHODS:A total of 87 patients, aged 7-29 years (median 13, mean 13.4) were selected retrospectively. They underwent exerci...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117000233
更新日期:2017-09-01 00:00:00
abstract::The purpose of our paper is to assess the prognostic value of balloon occlusion as a test for patients with various types of functionally single ventricle after different palliative surgical procedures who were candidates for further modifications of a cavo-pulmonary operation. In all patients, there were at least two...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:
更新日期:2003-08-01 00:00:00
abstract::Isolated aortic regurgitation and myocardial infarction are a rare congenital defect among neonatal patients. We present a case of a neonate with an unusual aortic valve morphology causing both regurgitation and obstruction of the left coronary artery ostium. Despite both non-invasive and invasive imaging modalities, ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120001377
更新日期:2020-07-01 00:00:00
abstract::We report a novel technique using an Amplatzer atrial septal occluder to close a defect located in the inferior-posterior portion of the interatrial septum that extended into the mouth of the inferior caval vein. Because of the close relation of the defect to the inferior caval vein, the right atrial disc was opened i...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951103000386
更新日期:2003-04-01 00:00:00
abstract::We present a rare case of incidentally diagnosed Twiddler's syndrome in a child 7 years after implantation of a dual-chamber pacemaker system with epicardial leads. During revision, an insulation defect of the ventricular lead was evident, despite unremarkable prior pacemaker lead testing. The lead was repaired and a ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120001031
更新日期:2020-06-01 00:00:00
abstract::Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence a...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951117000579
更新日期:2017-09-01 00:00:00
abstract:INTRODUCTION:Aetiology of protein-losing enteropathy in single-ventricle type CHD is multi-factorial. REPORT:We describe two Fontan patients with protein-losing enteropathy who presented with cytomegalovirus-associated colitis. DISCUSSION:Fontan patients display risk factors for cytomegalovirus-induced gastroenteropa...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120000049
更新日期:2020-03-01 00:00:00
abstract::Improvements in diagnosis and surgical technique for correction have led to an increasing number of women with congenital heart disease reaching the child-bearing age. Pregnancy places considerable strain on the heart and circulation and necessitates marked cardiorespiratory adaptation. Today, with the exception of th...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/s1047951100007496
更新日期:1999-01-01 00:00:00
abstract:BACKGROUND:Syncope is common in children and adolescents and most commonly represents neurocardiogenic syncope. No information has been reported regarding the effect of syncope on health-related quality of life in children. METHODS:This was a retrospective cohort study of patients seen in the Heart Institute Syncope C...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112000133
更新日期:2012-10-01 00:00:00
abstract::Atrioventricular valve regurgitation is widely known as a risk factor for Fontan completion in patients with univentricular physiology. To date, indications and timing for atrioventricular valve repair remain unclear and different surgical techniques have been advocated. Since 2013, 50 consecutive patients underwent e...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114002352
更新日期:2015-10-01 00:00:00
abstract::Although extrarenal manifestations of haemolytic-uraemic syndrome are not frequent, myocardial dysfunction should be given special consideration because of the importance of proper early haemodynamic management and potential complications. We report the case of a 21-month-old child with haemolytic-uraemic syndrome who...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115002759
更新日期:2016-06-01 00:00:00
abstract::Dengue virus can affect the heart, with complications as bradycardia, arrhythmias, and death. We present a case of a 15-year-old patient, diagnosed 4 years before with severe idiopathic pulmonary hypertension, confirmed by catheterism, with continuous follow up. At that time, she was living in Bogotá (2640 m above sea...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120004321
更新日期:2020-12-14 00:00:00
abstract::Congenital heart disease is a significant cause of morbidity and mortality in the newborn. Its diagnosis may lead to a crisis in the affected families; there are the perceived implications of having an abnormality of so vital an organ. To that may be added the assumed guilt or blame, grief and at times anger, frequent...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/s104795110000696x
更新日期:1998-07-01 00:00:00
abstract::Large volumes of data and multiple computing platforms are now universal components of paediatric cardiovascular medicine, but are in a constant state of evolution. Often, multiple sets of related data reside in disconnected "silos", resulting in clinical, administrative, and research activities that may be duplicativ...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951116001268
更新日期:2017-05-01 00:00:00
abstract::Senning operation is a surgical treatment for transposition of great arteries that can be complicated by post-procedural atrial or caval baffle leaks. We present a 6-year-old boy with a history of Senning repair for transposition of great arteries, who developed a pulmonary venous baffle leak. Percutaneous baffle leak...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120002255
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Tetralogy of Fallot is a common congenital cardiac malformation. A rare subgroup includes unilateral absence of the pulmonary artery, either the left or the right main branch. The literature lacks an established treatment for these cases, and surgical options carry certain mortality and morbidity. PATIENTS ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112000911
更新日期:2013-06-01 00:00:00
abstract::Most patients with the Mustard procedure are now adults. To date, however, there have been few reports on resting and exercise hemodynamics in a large population of adults with this circulation. The aim of this study is to describe such parameters in one of the largest and oldest populations of adults with the Mustard...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s104795110100052x
更新日期:2001-07-01 00:00:00
abstract:OBJECTIVE:Arrhythmias are common in patients admitted to the paediatric intensive care unit. We sought to identify the rates of occurrence and types of arrhythmias, and determine whether an arrhythmia was associated with illness severity and paediatric intensive care unit length of stay. DESIGN:This is a prospective, ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114002339
更新日期:2015-10-01 00:00:00
abstract::In this report, a unique case of a symptomatic vascular ring formed by right aortic arch, aberrant left subclavian artery, and left ligamentum arteriosus in which there is atresia of the proximal left subclavian artery is described. Imaging modalities were non-diagnostic and the patient was sent to surgery based on st...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118001737
更新日期:2019-01-01 00:00:00
abstract::The levoatriocardinal vein is the embryological remnant of the connection between the pulmonary and systemic venous systems. It is a rare lesion that usually occurs in the presence of left-sided obstruction, developing as a pathway for decompression of the pulmonary veins. We report the first case of a levoatriocardin...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951116000652
更新日期:2016-08-01 00:00:00
abstract:INTRODUCTION:Anomalous origin of one pulmonary artery from the ascending aorta is a rare cardiac anomaly in which the pulmonary artery abnormally arises from the ascending aorta. Physiologically, most patients develop signs of cardiac failure due to high flow to both lungs, with systemic or supra-systemic pressures in ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110000892
更新日期:2010-12-01 00:00:00
abstract::The supramitral ring is a rare congenital malformation formed by presence of a ridge of connective tissue, usually attached at or above the mitral annulus. The incidence and clinical presentation is highly variable due to difficulty in diagnosis. A review of autopsied congenital heart diseases at our institute over a ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951108003399
更新日期:2009-02-01 00:00:00
abstract:OBJECTIVE:To characterise the parenting priorities of mothers and fathers of infants hospitalised with CHD and generate recommendations to support parenting during infant hospitalisation. STUDY DESIGN:Through online crowdsourcing, an innovative research methodology to create an online community to serve as a research ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120002139
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Functional health is becoming an important part of outcome assessment following congenital heart surgery. METHODS:The Child Health Questionnaire was used to evaluate self-reported functional health in a cohort of children operated on for congenital heart disease between 1996 and 2002, now aged 10-20 years. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110000843
更新日期:2010-12-01 00:00:00
abstract::Fibrates are peroxisome proliferator-activated receptor-α agonists and are clinically used for treatment of dyslipidemia and hypertriglyceridemia. Fenofibrate is reported as a cardioprotective agent in various models of cardiac dysfunction; however, limited literature is available regarding the role of gemfibrozil as ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S104795111400081X
更新日期:2015-04-01 00:00:00