Abstract：
:Congenital heart defect (CHD) represents the most prevalent birth defect, and accounts for substantial morbidity and mortality in humans. Aggregating evidence demonstrates the genetic basis for CHD. However, CHD is a heterogeneous disease, and the genetic determinants underlying CHD in most patients remain unknown. In the present study, a cohort of 186 unrelated cases with CHD and 300 unrelated control individuals were recruited. The coding exons and flanking introns of the MEF2C gene, which encodes a transcription factor crucial for proper cardiovascular development, were sequenced in all study participants. The functional effect of an identified MEF2C mutation was characterized using a dual-luciferase reporter assay system. As a result, a novel heterozygous MEF2C mutation, p.R15C, was detected in an index patient with congenital double outlet right ventricle (DORV) as well as ventricular septal defect. Analysis of the proband's pedigree showed that the mutation co-segregated with CHD with complete penetrance. The missense mutation, which changed the evolutionarily conserved amino acid, was absent in 300 control individuals. Functional deciphers revealed that the mutant MEF2C protein had a significantly decreased transcriptional activity. Furthermore, the mutation significantly reduced the synergistic activation between MEF2C and GATA4, another transcription factor linked to CHD. This study firstly associates MEF2C loss-of-function mutation with DORV in humans, which provides novel insight into the molecular pathogenesis of CHD, suggesting potential implications for genetic counseling and personalized treatment of CHD patients.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Lu CX,Wang W,Wang Q,Liu XY,Yang YQdoi
10.1007/s00246-018-1822-ysubject
Has Abstractpub_date
2018-04-01 00:00:00pages
794-804issue
4eissn
0172-0643issn
1432-1971pii
10.1007/s00246-018-1822-yjournal_volume
39pub_type
杂志文章abstract：:It is unclear if neonatal tetralogy of Fallot repair offers better outcomes compared to repair later in infancy. We therefore conducted a meta-analysis comparing outcomes of neonatal and non-neonatal repair. Manuscripts were identified and reviewed for quality and bias with favorably scored manuscripts being included ...
journal_title：Pediatric cardiology
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s00246-017-1579-8
更新日期：2017-06-01 00:00:00
abstract：:We herein describe, for the first time, the fetal presentation of a case of ventricular inversion, restrictive ventricular septal defect, pulmonary stenosis, hypertensive left ventricle and double outlet right ventricle at 34 weeks of gestational age. Postnatal echocardiography confirmed the prenatal diagnosis. The pa...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/s00246-018-2048-8
更新日期：2019-01-01 00:00:00
abstract：:Routine use of intraoperative transesophageal echocardiography (TEE) is a safe monitoring and diagnostic method during pediatric congenital cardiac surgery. However, the question of whether intraoperative TEE is accurate and cost effective for patients with tetralogy of Fallot (TOF) has not been raised. This study aim...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0423-4
更新日期：2013-02-01 00:00:00
abstract：:Digoxin has been an effective treatment for fetal supraventricular tachycardia (SVT), but second-line therapy remains more controversial. Thirty-seven cases of fetal SVT were identified that received digoxin as first-line therapy. Seventeen fetuses (46%) converted to and maintained normal sinus rhythm. Flecainide was ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002460010279
更新日期：2001-11-01 00:00:00
abstract：:A rare form of endocardial cushion defect is an atrioventricular (AV) canal-type ventricular septal defect with cleft mitral valve in the absence of a primum atrial septal defect. In two infants with Down's syndrome, preoperative delineation of this entity was accomplished. M-mode echocardiographic features included p...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02426975
更新日期：1982-01-01 00:00:00
abstract：:A vascular approach for balloon aortic dilatation in infants is of major concern due to the high risk of femoral artery injury. To overcome this problem, a surgical right carotid artery (RCA) approach has been advocated. No reports are available on RCA after neonatal cutdown. Since 1990, RCA cutdown has been performed...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002460010202
更新日期：2001-05-01 00:00:00
abstract：:Our objective was to evaluate and highlight the significance of epigastric tenderness in children and adolescents with chest pain. In a 26-months period, patients who were referred for pediatri cardiology evaluation at Shiraz University of Medical Sciences with chief complaint of chest pain were studied. Patients with...
journal_title：Pediatric cardiology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/s00246-002-0077-8
更新日期：2003-01-01 00:00:00
abstract：:For some congenital heart lesions, higher institutional surgical volume has been associated with better survival than in lower volume centers. The relationship between institutional surgical volume and mortality in infants after total anomalous pulmonary vein return (TAPVR) repair has not been well explored. The Texas...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-019-02224-x
更新日期：2020-01-01 00:00:00
abstract：:A case report of a neonate with cardiac tumors in association with tuberous sclerosis is presented. The rare complication of pulmonary embolism and its successful treatment by anticoagulation and thrombolytic therapy is described. The treatment of these cardiac tumors is conservative, because the tumors regress sponta...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002460010247
更新日期：2001-07-01 00:00:00
abstract：:Dilated cardiomyopathy (DCM) is an important cause of chronic congestive cardiac failure in children. In patients with idiopathic DCM, endothelium vasomotor function is disturbed. There are many studies on the roles of nitric oxide (NO) and adrenomedullin (AM) in adult patients with DCM. However, to our knowledge, no ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-002-0352-8
更新日期：2003-07-01 00:00:00
abstract：:Little has been published about specific problems that may occur during long-distance transports of newborn cardiac patients. During a 4-year period after centralization of pediatric heart surgery in Sweden, 286 transports were prospectively investigated. A majority (77.3%) of the transports were carried out by nonspe...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002460010254
更新日期：2001-09-01 00:00:00
abstract：:Percutaneous balloon aortic valvoplasty (BAV) and surgical aortic valvotomy (SAV) are palliative procedures in patients with non-critical congenital valve stenosis. The aim of the study was to evaluate long-term BAV and SAV results after up to 24 years of follow-up. From 1987 to 2013, 74 consecutive interventions were...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-014-1056-6
更新日期：2015-03-01 00:00:00
abstract：:The reported prenatal detection rates (PDRs) for significant congenital heart disease (sCHD) have been suboptimal, even in the current era. Changes in prenatal ultrasound policy and training may lead to improved prenatal detection of sCHD. This study analyzed the results of a policy to assess fetal cardiac outflow tra...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0526-y
更新日期：2013-03-01 00:00:00
abstract：:Congenital heart defects (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life. The molecular causes of most CHDs remain largely unknown. The LIM homeodomain transcriptor factor ISL1 is a marker for undifferentiated cardiac progenitor cells that give rise to both t...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0578-z
更新日期：2013-04-01 00:00:00
abstract：:This study aimed to determine the dimensions of the thoracic aorta and the predictors of aortic dimensions in girls and young women with Turner syndrome (TS). A cross-sectional study was performed at a secondary care center. The study compared 41 TS patients with 50 healthy age-matched control subjects. The mean age o...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-009-9626-8
更新日期：2010-05-01 00:00:00
abstract：:Left ventricular (LV) function is impaired by increased afterload in neonates with severe coarctation of the aorta, which may result in endocardial fibroelastosis. Repair of the coarctation usually solves the problem, with LV function normalizing after a few weeks. This report describes a patient who underwent success...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-009-9595-y
更新日期：2010-02-01 00:00:00
abstract：:This study aimed to evaluate the effects of washed cardiopulmonary (CPB) circuit residual blood reinfusion on the postoperative clinical outcome for pediatric patients undergoing cardiac surgery. A total of 309 consecutive Chinese cardiac patients receiving CPB between October 2010 and April 2011 were prospectively an...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0606-z
更新日期：2013-06-01 00:00:00
abstract：:Intrathoracic ventricular aneurysms and diverticula can be differentiated by several criteria. Contractility is the only reliable parameter: aneurysms expand, whereas diverticula contract during ventricular systole. ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002460010264
更新日期：2001-09-01 00:00:00
abstract：:At the University of California Davis Medical Center, a screening fetal ultrasound examination (level I or II) incorporates a comprehensive segmental evaluation of the fetal heart. This study evaluated the reliability of the fetal ultrasound exam in the detection of abnormal heart anatomy. Our retrospective study revi...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-001-0073-4
更新日期：2002-11-01 00:00:00
abstract：:For adults with sickle cell disease (SCD), cardiac changes are well described and may account for up to one-fourth of disease-related mortality. Much less is known about heart disease in pediatric SCD patients. This retrospective study analyzed a contemporary cohort of children with SCD followed at a single tertiary c...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0587-y
更新日期：2013-04-01 00:00:00
abstract：:Although transthoracic echocardiography (TTE) is the first-line examination for the study of coronary lesions in Kawasaki disease, CT coronary angiography (CTCA) is increasingly used and showed good results. Our aim is to evaluate the contribution of CTCA in the detection of coronary lesions and to compare its results...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-018-2044-z
更新日期：2019-02-01 00:00:00
abstract：:The most common modes of medical education for congenital heart disease (CHD) rely heavily on 2-dimensional imaging. Three-dimensional (3D) printing technology allows for the creation of physical cardiac models that can be used for teaching trainees. 3D printed cardiac models were created for the following lesions: pu...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-019-02146-8
更新日期：2019-08-01 00:00:00
abstract：:Kawasaki disease (KD) is a self-limiting systemic vasculitis of unknown etiology. KD is often complicated by coronary artery aneurysms (CAAs), which develop in about 20-25% of untreated children and 3-5% of children treated with intravenous immunoglobulin therapy. To identify the risk loci for CAA susceptibility in pa...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-018-1992-7
更新日期：2019-03-01 00:00:00
abstract：:In 19 consecutive children with aortic valve stenosis, the left ventricle was entered retrogradely with a Gensini catheter guided by a tip-deflector guidewire which could produce any desirable degree of curvature at its tip. In all patients, the aortic valve was retrogradely traversed for measurement of the pressure g...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02328955
更新日期：1986-01-01 00:00:00
abstract：:Device closure of atrial septal defects (ASDs) is rapidly becoming routine in children. Comparisons are often made to older surgical series with higher morbidities. However outcomes including reintervention, late failure, and the need for long-term follow-up must be considered and compared to those of a current surgic...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-002-0131-6
更新日期：2003-09-01 00:00:00
abstract：:The response to warfarin is highly variable among individuals and such variability is likely to have some genetic basis. We evaluted the effect of VKORC1 polymorphisms on warfarin response among Japanese, taking advantage of its unique population structure in which CYP2C9 *2 and *3 alleles are relatively rare. Thirty-...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-005-1150-x
更新日期：2006-11-01 00:00:00
abstract：:This review outlines the morphologic and pathogenetic characteristics of congenital polyvalvular disease. Two cases are used for exemplification. The macroscopic and histologic features of the valves as well as associated cardiac lesions and clinical syndromes are described, followed by a discussion of morphogenesis o...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/s002460010169
更新日期：2001-03-01 00:00:00
abstract：:A 6-year-old girl was found to have a combination of accessory mitral valve tissue and subaortic membrane. The association caused left ventricular outflow tract obstruction leading to severe left ventricular dysfunction. Surgical relief of the obstruction resulted in immediate improvement of ventricular function. ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-001-5023-7
更新日期：2002-01-01 00:00:00
abstract：:Right ventricular (RV) pacing can be associated with impairment of left ventricular (LV) function due to electrical dyssynchrony and myocardial remodeling (Janousek et al. in J Cardiovasc Electrophysiol 15:470-474, 2004). RV-pacing induced ventricular dysfunction is reversible by techniques such as biventricular pacin...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-017-1629-2
更新日期：2017-08-01 00:00:00
abstract：:Home international normalized ratio (INR) monitors are being increasingly used for monitoring the adequacy of anticoagulation in children on long-term warfarin. Their safety and effectiveness in the home setting has not been fully established. The purpose of this study was to explore the safety and effectiveness of ho...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-009-9535-x
更新日期：2010-01-01 00:00:00
