Abstract:
BACKGROUND:CHD is the leading cause of mortality due to birth defects. Array comparative genomic hybridisation (aCGH) detects submicroscopic copy number changes and may improve identification of the genetic basis of CHD. METHODS:This is a retrospective analysis of 1252 patients from a regional referral centre who had undergone aCGH. Of the patients, 173 had CHD. A whole-genome custom-designed oligonucleotide array with >44,000 probes was used to detect copy number changes. RESULTS:Of the 1252 patients, 335 (26.76%) had abnormal aCGH results. Of the 173 patients with CHD, 50 (28.9%) had abnormal aCGH results versus 284 (26.3%) of 1079 non-cardiac patients. There were six patients with CHD who had well-described syndromes such as Wolf-Hirschhorn, trisomy 13, DiGeorge, and Williams. Of the patients with CHD, those with left-sided heart disease had the highest proportion (14/31; 45.13%) of abnormal aCGH results, followed by those with conotruncal heart disease (10/29; 34.48%), endocardial cushion defects (13/50; 26%), complex/other heart disease (12/52; 23.08%), and patent ductus arteriosus (1/11; 9.09%). CONCLUSIONS:Patients with CHD are at a substantial risk of having microdeletions and microduplications. The incidence of abnormalities on aCGH analysis is higher than identified with karyotype, and identification of copy number changes may help identify the genetic basis of the specific heart defects. However, aCGH may not have a significant diagnostic yield in those with isolated CHD. Further research using larger data sets may help identify candidate genes associated with CHD.
journal_name
Cardiol Youngjournal_title
Cardiology in the youngauthors
Hightower HB,Robin NH,Mikhail FM,Ambalavanan Ndoi
10.1017/S1047951114001838subject
Has Abstractpub_date
2015-08-01 00:00:00pages
1155-72issue
6eissn
1047-9511issn
1467-1107pii
S1047951114001838journal_volume
25pub_type
杂志文章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:OBJECTIVE:Cardiovascular morbidity is high in patients with coarctation of aorta even after successful repair. This study aimed to assess the frequency of late hypertension and the relationship between ambulatory hypertension and cardiovascular target organ damage in children and adolescents after early and successful ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S104795112000205X
更新日期:2020-09-01 00:00:00
abstract::D is an 8-year-old boy brought to his paediatrician for evaluation. His mother is concerned as his teacher has been frequently complaining that he is very restless and often disturbs the rest of the class by getting up on some pretext or the other. He is unable to concentrate on his work and gets distracted very easil...
journal_title:Cardiology in the young
pub_type: 信件
doi:10.1017/S1047951115001274
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVES:Our aim was to assess the immediate and short term results of closure of moderate and large patent arterial ducts using the self-expanding and repositionable Amplatzer device. METHOD:We attempted closure in 25 patients (10 Females and 15 males) using the Amplatzer occluder. Their median age was 48 months wi...
journal_title:Cardiology in the young
pub_type: 临床试验,杂志文章
doi:10.1017/s1047951100009124
更新日期:2000-05-01 00:00:00
abstract::Chest pain in adolescents is rarely associated with cardiac disease. Adolescents with medically unexplained chest pain usually have high levels of anxiety and depression. Psychological stress may trigger non-cardiac chest pain. This study evaluated risk factors that particularly characterise adolescence, such as major...
journal_title:Cardiology in the young
pub_type: 杂志文章,多中心研究
doi:10.1017/S1047951116002109
更新日期:2017-08-01 00:00:00
abstract::Percutaneous treatment of aortic coarctation is a widely used option. Covered stents have increased the profile of efficacy and safety of this procedure. Here we report on a 32-year-old woman with significant aortic recoarctation associated with aortic wall aneurysm and close proximity of both lesions to the origin of...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001061
更新日期:2015-04-01 00:00:00
abstract::Neonates and small infants have unique characteristics that make it possible to obtain echocardiographic views that are inaccessible in older patients. A high transsternal approach through the cartilaginous sternum and the thymus gland allows visualisation of a short-axis view of the pulmonary valve. This view should ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115001845
更新日期:2016-04-01 00:00:00
abstract::May-Thurner syndrome is a rare clinical entity involving venous obstruction of the left lower extremity. The May-Thurner syndrome is a phenomenon commonly described as an acquired stenosis of the left common iliac vein secondary to compression of the left common iliac vein between the right common iliac artery and the...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001115
更新日期:2015-04-01 00:00:00
abstract::Conotruncal heart defects are considered to be one of the most common types of birth defect worldwide. Genetic disturbances in folate metabolism such as Thymidylate synthase may increase risk for conotruncal heart defects. We evaluated two common Thymidylate synthase polymorphisms, including the 28 bp tandem repeat in...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118002184
更新日期:2018-12-21 00:00:00
abstract:OBJECTIVE:Increasing rates of survival have raised the question of medical and psychosocial factors contributing to quality of life of patients with congenital cardiac disease. We investigated the impact of the severity of disease, and social disadvantage, on the quality of life of patients and their primary caregivers...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951105002118
更新日期:2006-02-01 00:00:00
abstract::Fetal constriction of the ductus arteriosus is a complication of maternal non-steroidal anti-inflammatory drug use and polyphenol-rich food intake. It is unclear as to whether polyphenol-containing topical treatments have similar effects. We present a case of fetal constriction of the ductus arteriosus, severe right v...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115001924
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVE:To determine the efficacy of anatomic biventricular repair by a combination of intraatrial and intraventricular re-routing in patients with isomerism of the left atrial appendages. METHODS:Anatomic biventricular repair by means of combined intraratrial and intraventricular re-routing was achieved in 5 of the...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951100012361
更新日期:2001-01-01 00:00:00
abstract::Dysfunction of the autonomic nervous system, or dysautonomia, is an uncommon disease. Postural orthostatic tachycardia syndrome is one of the several types of dysautonomia. Postural orthostatic tachycardia syndrome, also known as chronic orthostatic intolerance, is the most common but least severe of the dysautonomic ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110001198
更新日期:2010-12-01 00:00:00
abstract::The persistence of so-called spongy myocardium was first reported in humans in the 1960s. Subsequently, a few reports described the condition, utilizing inconsistent facts and terminology. In 1990 the first report appeared using the term "noncompaction", and detailed its clinical implications. Following this report, m...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951108001972
更新日期:2008-06-01 00:00:00
abstract:BACKGROUND:Absent arterial valve leaflets are rare anomalies. On the basis of our understanding of the normal development of the arterial valves, we draw inferences that might offer clues to their morphogenesis. METHODS:We describe the findings from four human fetal autopsies with so-called "absent" arterial valvar le...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951116000524
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:The management of fluid overload after congenital heart surgery has been limited to diuretics, fluid restriction, and dialysis. This study was conducted to determine the association between peritoneal dialysis and important clinical outcomes in children undergoing congenital heart surgery. METHODS:A retrosp...
journal_title:Cardiology in the young
pub_type: 杂志文章,多中心研究
doi:10.1017/S1047951120000141
更新日期:2020-04-01 00:00:00
abstract::The first World Congress of Paediatric Cardiology was held in London, United Kingdom, in 1980, organised by Dr. Jane Somerville and Prof. Fergus Macartney. The idea was that of Jane Somerville, who worked with enormous energy and enthusiasm to bring together paediatric cardiologists and surgeons from around the world....
journal_title:Cardiology in the young
pub_type: 社论
doi:10.1017/S1047951112002107
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVES:The objectives of this study were to describe the approach to stenting arterial shunts in adult congenital patients with single-ventricle physiology and to assess the medium-term clinical and haemodynamic outcomes following stent insertion. BACKGROUND:Adult patients with single-ventricle physiology and pulm...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118001464
更新日期:2018-12-01 00:00:00
abstract:OBJECTIVES:The aim of the present study was to explore the predictive value of red cell distribution width as a means to differentiate between neurally mediated syncope and arrhythmic syncope in children. METHOD:Patients were divided into a neurally mediated syncope group (n=72) and an arrhythmic syncope group (n=21) ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951116001098
更新日期:2017-05-01 00:00:00
abstract::Patients with pulmonary regurgitation after tetralogy of Fallot repair have impaired aerobic capacity; one of the reasons is the decreasing global ventricular performance at exercise, reflected by decreasing peak oxygen pulse. The aims of our study were to evaluate the impact of pulmonary valve replacement on peak oxy...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115002504
更新日期:2016-10-01 00:00:00
abstract:BACKGROUND:We have used the Amplatzer ductal occluder for transcatheter closure of large persistently patent arterial ducts, and used our experience to assess the safety and efficacy of the device in young children and infants. METHODS AND PATIENTS:We used the Amplatzer ductal occluder prospectively in 43 patients wit...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951105000570
更新日期:2005-06-01 00:00:00
abstract::We report the case of a 12-day-old newborn affected by coarctation of the aorta and intraventricular defect who underwent coarctectomy and pulmonary artery banding. On post-operative day 7, the patient suffered from pulseless electric activity due to tension pneumothorax. Point-of-care ultrasound was performed during ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115001213
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND:Transcatheter closure of atrial septal defects is performed under fluoroscopy, but echocardiography has gained an important role in the procedure. With the new Amplatzer Septal Occluder a device has become available which is easy to implant with minimal fluoroscopy time. We developed an interventional proced...
journal_title:Cardiology in the young
pub_type: 临床试验,杂志文章
doi:10.1017/s1047951100008349
更新日期:1999-03-01 00:00:00
abstract::Children with a secundum atrial septal defect are usually asymptomatic and are referred for elective closure after 3-4 years of age; however, in premature infants with chronic lung disease, bronchopulmonary dysplasia, or pulmonary hypertension, increased pulmonary blood flow secondary to a left-to-right atrial shunt, ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114002650
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:Anthracycline chemotherapeutic agents carry the well-recognised risk of cardiac toxicity. The aim of this study was to determine the long-term effect of anthracycline chemotherapy on the biventricular function in childhood cancer survivors using tissue Doppler imaging and two-dimensional speckle tracking echo...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951119001094
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND:This study evaluated the effectiveness of long-term intensive lipid-lowering therapy in children and adolescents with familial hypercholesterolaemia. METHODS:The charts of 89 children and adolescents with heterozygous familial hypercholesterolaemia among ∼1000 patients treated from 1974 to 2008 were reviewe...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113000528
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:Although survival to hospital discharge among children requiring extracorporeal membrane oxygenation support for medical and surgical cardio-circulatory failure has been reported in international registries, extended survival and re-hospitalisation rates have not been well described in the literature. MATER...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112000777
更新日期:2013-04-01 00:00:00
abstract::We report an unusual case of a 12-month-old boy diagnosed with anomalous origin of a single coronary artery from the pulmonary artery associated with patent ductus arteriosus. The patient survival was attributed to left-to-right shunt (patent ductus arteriosus) allowing for appropriate myocardial perfusion. Successful...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120001328
更新日期:2020-07-01 00:00:00
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journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117001664
更新日期:2018-01-01 00:00:00
abstract::Two paediatric congenital heart disease patients presented with a brief history of low-grade fever without any focal symptoms. Their clinical features and laboratory tests were unremarkable; however, their blood cultures were positive that prompted further work-up. Infective endocarditis should be considered in any pa...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S104795112000195X
更新日期:2020-09-01 00:00:00