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 the promoter enhancer region of the 5'-untranslated region and the 6 bp deletion in the 3'-untranslated region, as risk factors of conotruncal heart defects including various subtypes of malformations, in a total of 193 mothers with conotruncal heart defect in offspring and 234 healthy controls in the Chinese population. Logistic regression analyses revealed that mothers who were homozygotes with deletion (-/-) had a 1.8-fold (odds ratio: 1.8; 95% confidence interval: 1.0-3.0, p = 0.040) increased risk for conotruncal heart defect in offspring, respectively, when compared with mothers carrying the wild type (+/+) genotype. Consistently, individuals carrying the genotype -/- of the Thymidylate synthase 6 bp deletion also had higher plasma homocysteine levels compared to the mothers carrying the genotype +/+ in the control and conotruncal heart defect groups (p = 0.006 and p = 0.004, respectively). However, our results showed that Thymidylate synthase 28 bp tandem repeat polymorphism was not associated with risk for conotruncal heart defect and plasma homocysteine level. In conclusion, our data suggest that the maternal Thymidylate synthase 6 bp deletion polymorphism might be associated with plasma homocysteine level and risk for conotruncal heart defect in offspring.
journal_name
Cardiol Youngjournal_title
Cardiology in the youngauthors
Wang X,Wei H,Wu Y,Tian Y,Luo Ldoi
10.1017/S1047951118002184subject
Has Abstractpub_date
2018-12-21 00:00:00pages
1-6eissn
1047-9511issn
1467-1107pii
S1047951118002184pub_type
杂志文章abstract:BACKGROUND:We previously reported four heterozygous missense mutations of MYH7, KCNQ1, MYLK2, and TMEM70 in a single three-generation Chinese family with dual Long QT and hypertrophic cardiomyopathy phenotypes for the first time. However, the clinical course among the family members was various, and the potential myoca...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118000860
更新日期:2018-09-01 00:00:00
abstract::An unusual combination of three types of interatrial communications - coronary sinus defect, primum defect, and secundum defect - occurring together in a 3-year-old child is presented. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S104795112000400X
更新日期:2020-12-01 00:00:00
abstract::We carried out a retrospective case control analysis to evaluate the outcome, and the need for treatment, of problems with atrioventricular conduction occurring during an acute attack of rheumatic fever, assessing the occurrence of second and third atrioventricular block versus first degree block. We reviewed and anal...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:
更新日期:2003-12-01 00:00:00
abstract:BACKGROUND:The relationship between sildenafil dosing, exposure, and systemic hypotension in infants is incompletely understood. OBJECTIVES:The aim of this study was to characterise the relationship between predicted sildenafil exposure and hypotension in hospitalised infants. METHODS:We extracted information on sild...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117001639
更新日期:2018-01-01 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::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
abstract::Common arterial trunk with arch obstruction is a rare conotruncal abnormality. We report, with confirmatory images, a neonate with this anomaly and additional supracardiac partial anomalous pulmonary venous connection, as well as phenylketonuria. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115000128
更新日期:2015-06-01 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::Primary care cardiology, also known as ambulatory or outpatient cardiology, for the longitudinal management of patients with common arterial trunk or with transposition of the great arteries is both poorly described and has limited evidence to justify its basis. This article discusses some of the various complications...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951112001588
更新日期:2012-12-01 00:00:00
abstract::We report three cases of an abnormal finding of duplicated left pulmonary artery: two of these occurring in children with Kabuki syndrome and configuring the setting of a pseudo-pulmonary sling without any clinical or cardiac cross-sectional evidence of tracheal compression. The other case instead represents duplicate...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951115000281
更新日期:2016-02-01 00:00:00
abstract::Primary tumors of the cardiac valves are rare. One of the most common reasons that left-sided cardiac tumors come to clinical attention is embolization to the systemic circulation. We present two children who suffered left coronary arterial occlusion due to embolization of a sarcoma of the mitral valve. A 6-year-old f...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/s1047951101000786
更新日期:2001-09-01 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:BACKGROUND:The physiological importance of the lateral tunnel stenosis in the Fontan pathway for children with single ventricle physiology can be difficult to determine. The impact of the stenosis and stent implantation on total cavopulmonary connection resistance has not been characterized, and there are no clear guid...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114002765
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Kawasaki disease, which is characterised by systemic vasculitides accompanied by acute fever, is regularly treated by intravenous immunoglobulin to avoid lesion formation in the coronary artery; however, the mechanism of intravenous immunoglobulin therapy is unclear. Hence, we aimed to analyse the global exp...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117001433
更新日期:2017-11-01 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::A 2-month-old baby was resuscitated from ventricular fibrillation attributed to a concurrent chaotic atrial tachycardia with Wolff-Parkinson-White syndrome. He underwent successful radiofrequency catheter ablation of an accessory pathway. Throughout the 4-year follow-up after the procedure, the boy remained free of an...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951109992034
更新日期:2010-04-01 00:00:00
abstract::We present a young soldier presenting with aborted sudden cardiac death, who was found to have concomitant hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome. Along with pathological haemodynamic features of hypertrophic cardiomyopathy, an easily-inducible re-entrant tachycardia was clearly documented in o...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118002123
更新日期:2019-02-01 00:00:00
abstract:INTRODUCTION:The term cor triatriatum is used to describe a fibromuscular partition that divides an atrium into two compartments. It was first used by Borst in 1905, although the lesion had been described before by Church in 1868. Both described divided left atrial chamber (also referred to as cor triatriatum sinister)...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951114001073
更新日期:2015-02-01 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::Berry syndrome is a rare CHD. Approximately 29 cases have been described in the literature. Surgical correction has been successfully performed as well. We report the case of a newborn diagnosed with Berry syndrome who was subsequently diagnosed with trisomy 13. Cytogenetic analysis should be performed before surgical...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115000256
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Cardiovascular disease is a leading cause of morbidity and mortality in childhood cancer survivors. Cardiologists must be aware of risk factors and long-term follow-up guidelines, which have historically been the purview of oncologists. Little is known about paediatric cardiologists' knowledge regarding the ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S104795111900088X
更新日期:2019-06-01 00:00:00
abstract::A neonate with transposition of the great arteries and intact ventricular septum presented without pulmonary over-circulation, and subsequently developed pulmonary haemorrhage after corrective surgery. Postoperative CT revealed an aortopulmonary collateral artery arising from the descending aorta, and we performed suc...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951115001328
更新日期:2016-03-01 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::Behçet's disease is a chronic autoimmune disease with vascular complications that are most frequently manifested as thromboembolism in veins and pseudoaneurysm in arteries. We report the case of a 13-year-old boy admitted for clinical and biological signs of rheumatic fever associated with chest pain. The clinical exa...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113000498
更新日期:2014-04-01 00:00:00
abstract::Neonatal interventions for critical aortic coarctation may be associated with considerable morbidity and mortality if the patient is extremely premature. We report the successful treatment of critical coarctation in a 25-week, 740-gram infant using initial clipping of the duct until continued prostaglandin E1 infusion...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951111000679
更新日期:2012-02-01 00:00:00
abstract::A bicuspid aortic valve is not only a common congenital heart defect but also an enigmatic condition that can cause a large spectrum of diseases, such as aortic valve stenosis and severe heart failure in newborns whereas aortic dissection in adults. On the contrary, a bicuspid aortic valve can also occur with normal f...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951118001658
更新日期:2019-01-01 00:00:00
abstract::Myocarditis is an important cause of arrhythmogenic sudden cardiac arrest in the young. A strong index of suspicion is required as not only can arrhythmias be the only clinical manifestation but also because these patients can have normal cardiac biomarkers, electrocardiographic and echocardiographic findings, and inf...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120001523
更新日期:2020-08-01 00:00:00
abstract:INTRODUCTION:The diagnosis of trisomy 21 in children has been associated with failed extubation after CHD surgery. Dexmedetomidine may be a useful agent to improve postoperative outcomes in these patients, such as ventilator time, ICU length of stay, or hospital length of stay. MATERIALS AND METHODS:The Pediatric Heal...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001462
更新日期:2015-06-01 00:00:00
abstract::One of the important complications of transcatheter occlusion of the patent duct by insertion of either the Rashkind double umbrella or coil devices is intravascular haemolysis, particularly the severe form which occurs in 0.5-0.6% of cases. The incidence of subclinical or mild intravascular haemolysis including morph...
journal_title:Cardiology in the young
pub_type: 临床试验,杂志文章
doi:10.1017/s1047951100007393
更新日期:1999-01-01 00:00:00
abstract::Introduction Neurodevelopmental abnormalities are common in children with CHD and are the highest-priority concerns for parents and professionals following cardiac surgery in childhood. There is no additional routine monitoring of development for children with CHD in the United Kingdom; hence, neurodevelopmental conce...
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