Abstract：
:The genetic basis of congenital heart disease remains unknown in most of the cases. Recently, a novel mouse model shed new light on the role of CCN1/CYR61, a matricellular regulatory factor, in cardiac morphogenesis. In a candidate gene approach, we analyzed a cohort of 143 patients with atrial septal defects (ASD) by sequencing the coding exons of CCN1. In addition to three frequent polymorphisms, we identified an extremely rare novel heterozygous missense mutation (c.139C > T; p.R47W) in one patient with severe ASD. The mutation leads to an exchange of residues with quite different properties in a highly conserved position of the N-terminal insulin-like growth factor binding protein module. Further bioinformatic analysis, exclusion of known ASD disease genes as well as the exclusion of the mutation in a very high number of ethnically matched controls (more than 1,000 individuals) and in public genetic databases, indicates that the p.R47W variant is a probable disease-associated mutation. The report about ASD in mice in heterozygous Ccn 1 +/- animals strongly supports this notion. Our study is the first to suggest a relationship between a probable CCN1 mutation and ASD. Our purpose here was to draw attention to CCN1, a gene that we believe may be important for genetic analysis in patients with congenital heart disease.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Perrot A,Schmitt KR,Roth EM,Stiller B,Posch MG,Browne EN,Timmann C,Horstmann RD,Berger F,Özcelik Cdoi
10.1007/s00246-014-1001-8subject
Has Abstractpub_date
2015-02-01 00:00:00pages
295-9issue
2eissn
0172-0643issn
1432-1971journal_volume
36pub_type
杂志文章abstract：:Congenital heart defects (CHD) are the third leading cause of death in children <1 year of age in Mexico where there is a high prevalence of the 677C → T polymorphism of the MTHFR gene. This is important because the homozygous 677T/T MTHFR gene and deficiency of folic acid (FA) intake have been associated with CHD. Ou...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0380-y
更新日期：2013-01-01 00:00:00
abstract：:The prevalence of asymptomatic cardiac valve anomalies was determined in 82 patients (69 females and 13 males) diagnosed as having idiopathic scoliosis and scheduled for corrective surgery (mean age at surgery 16.3 years). The preoperative study in each patient included echocardiography and ultrasound Doppler. Twenty-...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-002-1443-2
更新日期：2002-07-01 00:00:00
abstract：:Eighteen of 25 survivors of aortic valvotomy in infancy were reinvestigated by cross-sectional echocardiography a mean of 7.5 (2.3-13.4) years after surgery. They had been operated at a median age of 38 (5-330) days. At the follow-up examination the gradient across the aortic valve was 41 +/- 19 (15-85) mmHg and the e...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF00788221
更新日期：1992-01-01 00:00:00
abstract：:Anatomic evidence of intrauterine closure of ventricular septal defects (VSDs) has been reported rarely. Between 1985 and 1990, 112 autopsies were performed at the Mayo Clinic on third trimester stillborns and infants who died during the first week of life. There were 21 (19%) cases of congenital heart disease. VSD wa...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF00797004
更新日期：1994-01-01 00:00:00
abstract：:Two children with acute symptomatic pericardial effusion had unusual echocardiographic findings. In each case, the pericardial effusion was hemorrhagic. Echocardiography displayed numerous linear bands coursing across the pericardial space. Recognition of this characteristic image may predict that an acute effusion is...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF00817614
更新日期：1994-03-01 00:00:00
abstract：:A 14-year-old boy after a Mustard procedure for transposition of the great arteries developed pulmonary hypertension secondary to baffle obstruction. This occurred over several years without apparent significant symptomatology. Systemic-level pressure prevailed in the left (pulmonary) ventricle and provided an opportu...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002469900470
更新日期：1999-07-01 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：:A 6-year-old girl with type 3 long QT syndrome was safely and successfully implanted with an implantable cardioverter-defibrillator (ICD) system. Prior to implantation, she had experienced uncontrollable life-threatening arrhythmia in spite of high-dose administration of mexiletine. An ICD coil lead for transvenous us...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-011-0065-y
更新日期：2011-10-01 00:00:00
abstract：:The congenital anomaly of aortopulmonary window is rare. Its combination with interruption of the aortic arch has been previously recognized and reported in infants and children. Early and complete repair of such a congenital anomaly may prevent progression to cardiac failure and premature death. We describe the succe...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/BF02505097
更新日期：1996-03-01 00:00:00
abstract：:Congenital aneurysms of the thoracic venous system are rare. In particular, innominate venous aneurysms are extremely rare. We describe a 16-year-old girl whose chest x-ray suggested a mediastinal tumor. Three-dimensional contrast-enhancement magnetic resonance venography showed a giant sacciform aneurysm of the left ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-003-0499-y
更新日期：2004-07-01 00:00:00
abstract：:In contrast to the percentile-based definitions of elevated blood pressure (BP) and hypertension for children and adolescents of all ages in the 2004 fourth report, the 2017 American Academy of Pediatrics (AAP) BP guideline recommends a change to single BP cut-offs for clinical diagnosis (120/< 80-129/< 80 mmHg for el...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-019-02058-7
更新日期：2019-04-01 00:00:00
abstract：:There are few data on the incidence of echocardiographic (echo) abnormalities following catheter ablation in children in the era of 3D mapping. Wide practice variation exists regarding routine post-ablation echo. We hypothesized a low incidence of clinically significant echo abnormalities following SVT ablation in oth...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-018-1999-0
更新日期：2019-03-01 00:00:00
abstract：:The single right ventricle (RV) in hypoplastic left heart syndrome (HLHS) often develops systolic dysfunction with time and this affects prognosis. Mechanical dyssynchrony has been reported in HLHS but has not consistently correlated with systolic function or electrical dyssynchrony. The aims of this study were to ass...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-019-02091-6
更新日期：2019-06-01 00:00:00
abstract：:Children with congenital heart defects often demonstrate a reduced capacity for exercise, even after surgical intervention. Forty subjects, with various heart defects, completed a 5-year study to evaluate the impact of a postoperative training program on their physical exercise capacity. All of the patients were signi...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02238841
更新日期：1990-07-01 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：:Chylothorax is a well-described complication after cardiothoracic surgery in children. Medical nutritional therapy for chylothorax includes medium-chain triglyceride (MCT) formulas and reduction in enteral long-chain triglyceride intake to reduce chyle production. Human milk is usually eliminated from the diet of infa...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-016-1393-8
更新日期：2016-08-01 00:00:00
abstract：:The primary objective was to create a clinically relevant model of right ventricular hypertension and to study right ventricular myocardial pathophysiology in growing organism. The secondary objective was to analyse the effect of oral enoximone (phosphodiesterase inhibitor) therapy on right ventricular haemodynamic pa...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-016-1463-y
更新日期：2016-12-01 00:00:00
abstract：:Thrombus formation in the native aortic root is a rare but potentially life-threatening complication in patients with hypoplastic left heart syndrome. The native aortic root in these patients serves as a conduit for the retrograde filling of the coronary arteries. Thrombus in this location could result in myocardial i...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-005-1274-z
更新日期：2006-05-01 00:00:00
abstract：:Human pluripotent stem cells (hPSCs) offer a multifaceted platform to study cardiac developmental biology, understand disease mechanisms, and develop novel therapies. Remarkable progress over the last two decades has led to methods to obtain highly pure hPSC-derived cardiomyocytes (hPSC-CMs) with reasonable ease and s...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/s00246-019-02165-5
更新日期：2019-10-01 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 timing of pulmonary valve replacement (PVR) in asymptomatic patients with repaired tetralogy of Fallot (TOF) is typically based on cardiac magnetic resonance imaging-derived ventricular volume measurements. Current criteria do not account for sex-based differences in chamber size. The purpose of this study was to ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-019-02181-5
更新日期：2019-10-01 00:00:00
abstract：:Cardiac surgery for congenital heart disease often necessitates a period of myocardial ischemia during cardiopulmonary bypass and cardioplegic arrest, followed by reperfusion after aortic cross-clamp removal. In experimental models, myocardial ischemia-reperfusion is associated with significant oxidative stress and ve...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-016-1345-3
更新日期：2016-04-01 00:00:00
abstract：:Patients with anomalies of the heart frequently suffer from arrhythmias that either are associated with a congenital heart defect or result from the course of the disease. For most of the bradyarrhythmias, appropriate timing of the initiation of treatment is more challenging than its eventual execution. In the case of...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/s002460010134
更新日期：2000-11-01 00:00:00
abstract：:Pediatric cardiothoracic surgery is often associated with low cardiac output in the postoperative period. This study sought to determine whether increasing heart rate via temporary atrial pacing is beneficial in augmenting cardiac output. Patients younger than 18 years who underwent cardiothoracic surgery and had no p...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-013-0687-3
更新日期：2013-10-01 00:00:00
abstract：:Assessment of ventricular dysfunction and asynchrony is very important in predicting the outcome for children with a single right ventricle. However, the assessment is inaccurate and subjective because of the unusual ventricular shape. This study aimed to evaluate the feasibility and clinical value of velocity vector ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-014-0908-4
更新日期：2014-10-01 00:00:00
abstract：:Restrictive cardiomyopathy (RCM) is characterized by irreversible diastolic dysfunction with preserved systolic function. The aim of this study was to investigate the presence of impaired ventricular contractility even in the presence of normal ejection fraction (EF) in children with RCM. Longitudinal Doppler tissue v...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-011-9948-1
更新日期：2011-06-01 00:00:00
abstract：:A very rare combination including tetralogy of Fallot (TOF), absent pulmonary valve, and isolated left pulmonary artery is described. A 4-month-old girl presented with mild cyanosis and severe dyspnea. Echocardiography established the diagnosis of TOF and absent pulmonary valve with severe pulmonary regurgitation and ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-008-9282-4
更新日期：2008-11-01 00:00:00
abstract：:B-type natriuretic peptide (BNP) reflects volume overload on left ventricle and pulmonary hypertension (PH) in patients with ventricular septal defect (VSD). Pulmonary vascular resistance (PVR) has been reported to correlate positively with BNP in VSD patients with various degrees of PH. We aimed to investigate the re...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-007-9037-7
更新日期：2008-01-01 00:00:00
abstract：:A large ductus arteriosus aneurysm can lead to potentially serious and life-threatening complications. We report a case of aneurysmal dilatation of the ductus arteriosus in a premature infant that was successfully treated with indomethacin. Thus, surgical intervention with general anesthesia could be avoided. ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-005-1164-4
更新日期：2006-01-01 00:00:00
abstract：:We retrospectively investigated the effect of warfarin therapy in improving the clinical outcome of Kawasaki disease (KD) patients with giant coronary aneurysms (GAs). We followed 2350 KD patients from 1973 to 2004. The GAs (> or =8 mm in diameter) were diagnosed by coronary angiography. Sixty-eight patients (54 males...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-007-9132-9
更新日期：2008-03-01 00:00:00
