Abstract:
:We describe 3 siblings with muscular ventricular septal defects, two requiring surgical closure. One of their offspring had a rare congenital aneurysm of the muscular ventricular septum, also requiring surgery. Another had a small muscular ventricular septal defect which closed spontaneously. Their father had echocardiographic evidence suggestive of a closed muscular defect. Paternal cousins have had ventricular septal defect, hypertrophic cardiomyopathy, and tetralogy of Fallot. There was no evidence of 22q11 deletion. Although ventricular septal defects are the most common congenital heart defect, such familial clustering is uncommon. The distribution of cases in this family suggests autosomal dominant inheritance. With echocardiography, and more precise diagnosis of defects which close, a larger genetic component may be revealed in other families.
journal_name
Cardiol Youngjournal_title
Cardiology in the youngauthors
Nicolae MI,Summers KM,Radford DJdoi
10.1017/S1047951107000996subject
Has Abstractpub_date
2007-10-01 00:00:00pages
523-7issue
5eissn
1047-9511issn
1467-1107pii
S1047951107000996journal_volume
17pub_type
杂志文章abstract::A 44-year-old woman was referred to our centre for interventional cardiac catheterisation. The diagnostic work-up after a preceding ischaemic stroke led to the assumption of a patent foramen ovale due to a positive bubble study. Before the planned percutaneous closure of the patent foramen ovale, we performed a second...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112002168
更新日期:2014-02-01 00:00:00
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 ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001838
更新日期:2015-08-01 00:00:00
abstract::Endothelial dysfunction has been reported in hypoxaemic patients with the Eisenmenger syndrome, but a direct correlation between levels of endothelial markers and the severity of hypoxaemia has not been explored. With this in mind, we compared the levels in the plasma of tissue-type plasminogen activator, thrombomodul...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951105001381
更新日期:2005-10-01 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:BACKGROUND:Patients with CHD exhibit reduced isometric muscle strength and muscle mass; however, little is known how these parameters relate. Therefore, the aim was to investigate the relation between isometric limb muscle strength and muscle mass for patients in comparison to age- and sex-matched control subjects. ME...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120004709
更新日期:2021-01-18 00:00:00
abstract::The common respiratory syncytial virus has been associated with cardiac involvement, usually tachyarrhythmias and occasionally myocarditis. A child is described who probably developed a complete heart block following respiratory syncytial bronchiolitis. Such an association needs to be considered if the heart is struct...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951109990102
更新日期:2010-02-01 00:00:00
abstract::In Respiratory Syncytial Virus infection, the early identification of infants at risk for severe disease in order to potentially decrease morbidity could be considered a major goal. Current guidelines recommend only clinical observation for this purpose in infants without known comorbidities. However, recent evidence ...
journal_title:Cardiology in the young
pub_type: 信件
doi:10.1017/S1047951119002348
更新日期:2019-11-01 00:00:00
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journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951107001266
更新日期:2007-09-01 00:00:00
abstract:OBJECTIVE:To investigate the epidemiological characteristics of Kawasaki disease in Jilin province of China and explore its clinical features. METHODS:The medical records of children with Kawasaki disease hospitalised in the First Affiliated Hospital of Jilin University and Yanbian University between January, 2000 and...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110000375
更新日期:2010-08-01 00:00:00
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journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117002918
更新日期:2018-04-01 00:00:00
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journal_title:Cardiology in the young
pub_type: 杂志文章,随机对照试验
doi:10.1017/S1047951119001835
更新日期:2019-09-01 00:00:00
abstract::In recent years, three-dimensional imaging has provided new opportunities for visualizing congenital cardiac malformations. We present the initial clinical experience using a recently implemented system, which employs some of new interactive, real-time, techniques. We show how three-dimensional rendering based on magn...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:
更新日期:2003-10-01 00:00:00
abstract:BACKGROUND:Diaphragm dysfunction following surgery for congenital heart disease is a known complication leading to delays in recovery and increased post-operative morbidity and mortality. We aimed to determine the incidence of and risk factors associated with diaphragm plication in children undergoing cardiac surgery a...
journal_title:Cardiology in the young
pub_type: 杂志文章,多中心研究
doi:10.1017/S1047951119002671
更新日期:2020-01-01 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::ABSTRACTPatent ductus arteriosus is among the most common congenital heart diseases. With the increasing use of transcatheter closure procedures, the incidence of complications related to the procedure has increased. Embolization of the ductus closure device to the pulmonary artery is a very rare complication. Since t...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951119000921
更新日期:2019-05-01 00:00:00
abstract:OBJECTIVE:The policy of early repair of patients with tetralogy of Fallot, irrespective of age, as opposed to initial palliation with a shunt, remains controversial. The aim of our study was to analyze the midterm outcome of primary early correction of tetralogy of Fallot. METHODS:Between 1996 and 2005, a total of 61 ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951108001960
更新日期:2008-04-01 00:00:00
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journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120001432
更新日期:2020-07-01 00:00:00
abstract::Plastic bronchitis is a rare and difficult to treat disease process in patients with congenital heart disease. Cardiac transplantation has been used increasingly to reverse this process, especially in single ventricle physiology. This case report demonstrates a foreseeable complication after cardiac transplantation in...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113001066
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND:Previous studies have demonstrated structural changes in the heart and cardiac dysfunction in foetuses with intrauterine growth restriction. There are no available data that evaluated left ventricular dimensions and mass in neonates with symmetric and asymmetric intrauterine growth restriction. Therefore, we...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113002199
更新日期:2015-02-01 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::This brief report describes a case of flail anterior tricuspid valve leaflet in a neonate associated with maternal antiphospholipid syndrome. Fetal echocardiography at 27 weeks of gestation showed competent atrioventricular valves with biventricular echogenic chordae. Fetal distress was noted at delivery, and echocard...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117000798
更新日期:2017-10-01 00:00:00
abstract:BACKGROUND:Children with congenital cardiac disease experience challenges in developing healthy patterns of physical activity due to decreased exercise capacity and parental fear and confusion about what is permissible. The purpose of this study was to describe physical activity habits in children 10-14 years of age wi...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951111000540
更新日期:2011-12-01 00:00:00
abstract::Advances in biomedical engineering have led to three-dimensional (3D)-printed models being used for a broad range of different applications. Teaching medical personnel, communicating with patients and relatives, planning complex heart surgery, or designing new techniques for repair of CHD via cardiac catheterisation a...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951119000398
更新日期:2019-06-01 00:00:00
abstract::This article is to commemorate and celebrate achievements of Professor Milan Šamánek who passed away on 29 April, 2020. Milan was an excellent and visionary paediatric cardiologist who helped to establish paediatric cardiology as a speciality in Czechoslovakia and several other east European countries in the late 1970...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120001547
更新日期:2020-09-01 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::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:OBJECTIVE:To categorise records according to primary cardiac diagnosis in the United Kingdom Central Cardiac Audit Database in order to add this information to a risk adjustment model for paediatric cardiac surgery. DESIGN:Codes from the International Paediatric Congenital Cardiac Code were mapped to recognisable prim...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112001369
更新日期:2013-08-01 00:00:00
abstract::We present the case studies of two adult patients with tetralogy of Fallot who were scheduled for surgery. After addressing the right ventricular outflow tract obstruction, the aorta was opened and the ventricular septal defect was approached in a straightforward manner as it was located just under the overriding aort...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112000030
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVES:The purpose of our study was to assess the prevalence and progression, during childhood and adolescence, of dilation of the neo-aortic root, and neo-aortic valvar regurgitation, and to identify risk factors for such dilation and regurgitation, after the arterial switch operation. METHODS:We included all pat...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951106000953
更新日期:2006-10-01 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