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 the right ventricle and the inflow and outflow tracts, which are affected by several cardiovascular malformations. Contradictory findings about the role of the ISL1 rs1017 single-nucleotide polymorphism in increasing the risk of CHD have been reported. In this study, we aimed to investigate whether the ISL1 rs1017 genetic polymorphism conferred susceptibility to CHD in the white population. In a case-control study design, 309 patients with CHD (197 men [age 21.3 ± 25.2]) and 500 healthy controls (272 men [age 15.7 ± 21.3]) were genotyped for the ISL1 rs1017 polymorphism. No significant difference in the genotype and variant allele distributions was found between patients and controls. In addition, the ISL1 rs1017 polymorphism was not associated with the risk of CHD neither overall (p = 0.7) nor stratifying the population by sex and CHD classification. In conclusion, ISL1 common variant rs1017 is not associated with increased genetic risk of CHD in the white population.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Cresci M,Vecoli C,Foffa I,Pulignani S,Ait-Ali L,Andreassi MGdoi
10.1007/s00246-012-0578-zsubject
Has Abstractpub_date
2013-04-01 00:00:00pages
938-41issue
4eissn
0172-0643issn
1432-1971journal_volume
34pub_type
杂志文章abstract::We sought to describe the use and outcomes of small, medium and large premounted stents in patients with congenital heart disease, including incidence of and risk factors for re-intervention and development of in-stent stenosis. Premounted stents offer several advantages over traditional manually crimped bare-metal st...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-016-1466-8
更新日期:2016-12-01 00:00:00
abstract::As our ability to diagnosis cardiomyopathy matures and genetic testing becomes more widespread, there has been an increase in the number of children followed for cardiomyopathy. The purpose of this study was to compare health-related quality of life (HRQoL) between children with cardiomyopathy and healthy controls and...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-014-1042-z
更新日期:2015-03-01 00:00:00
abstract::Ionizing radiation exposure is a necessary risk entailed during congenital cardiac catheterizations. The congenital catheterization lab at Yale New Haven Children's Hospital employed quality improvement strategies to minimize radiation exposure in this vulnerable population. In two phases, we implemented six intervent...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-018-2039-9
更新日期:2019-03-01 00:00:00
abstract::Atherosclerotic cardiovascular disease (CVD), a leading cause of death globally, has origins in childhood. Major risk factors include family history of premature CVD, dyslipidemia, diabetes mellitus, and hypertension. Lipoprotein (a) [Lp(a)], an inherited lipoprotein, is associated with premature CVD, but its impact o...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-018-1927-3
更新日期:2018-12-01 00:00:00
abstract::Catheter ablation in children requires placement of multiple large femoral venous sheaths and catheters. Magnetic resonance angiography (MRA) was used to evaluate the effect of indwelling lines on femoral venous blood flow. Between October 1993 and February 1994 a total of 17 patients scheduled for catheter ablation u...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s002469900151
更新日期:1997-05-01 00:00:00
abstract::Subtotal cor triatriatum sinister (partially divided left atrium) is characterized by a membrane dividing the left atrium into two portions: a dorsal accessory proximal chamber that receives part of the pulmonary venous return and a small restrictive defect in the membrane that obstructs blood flow from the accessory ...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-008-9205-4
更新日期:2008-07-01 00:00:00
abstract::Ultrasound Doppler was used to establish time of ductal closure, normal values for blood flow velocity in the pulmonary artery (PA), and time interval between pulmonary valve closure (Pc) and tricuspid valve opening (To) in 37 healthy neonates. Ductal closure had occurred in 23% of the children within 12 h after deliv...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:
更新日期:1986-01-01 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::A two-year-old child who had had palliative surgery as a neonate for an absent right atrioventricular connection and double-inlet ventricle was shown to be developmentally retarded. Trisomy for the short arm of chromosome 8 was demonstrated, resulting from a familial 8:13 translocation, with a high risk of recurrence....
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/BF02306750
更新日期:1984-01-01 00:00:00
abstract::Many different types of potassium channels with various functions exist in pulmonary artery smooth muscle cells, contributing to many physiological actions and pathological conditions. The deep involvement of these channels in the onset and exacerbation of pulmonary arterial hypertension (PAH) also continues to be rev...
journal_title:Pediatric cardiology
pub_type: 杂志文章,评审
doi:10.1007/s00246-016-1491-7
更新日期:2017-01-01 00:00:00
abstract::This report describes the case of a 29-day-old infant with Kawasaki's disease who presented in extremis with multiple coronary aneurysms and coronary thromboses, myocardial ischemia, and congestive heart failure. The infant successfully underwent emergent coronary thrombolysis with tissue plasminogen activator. ...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-010-9781-y
更新日期:2010-11-01 00:00:00
abstract:OBJECTIVE:Heterotaxy syndrome is associated with complex cardiac malformations and cardiac conduction system abnormalities. Those with right atrial isomerism (RAI) have dual sinus nodes and dual atrioventricular nodes predisposing them to supraventricular tachycardia (SVT). Those with left atrial isomerism (LAI) lack a...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-019-02087-2
更新日期:2019-06-01 00:00:00
abstract::Congenital diverticulum of the left ventricle, a rare malformation, is usually associated with midline thoracoabdominal defect. We describe a case with congenital left ventricular diverticulum presenting as an isolated lesion. The lesion was suspected on two-dimensional echocardiography and was confirmed by cardiac ca...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/BF02524804
更新日期:1996-07-01 00:00:00
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journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-015-1327-x
更新日期:2016-04-01 00:00:00
abstract::In adult heart failure (HF) patients, a higher ventricular arterial (VA) coupling ratio measured non-invasively is associated with worse HF prognosis and response to treatment. There are no data regarding the relationship of VA coupling to outcome in pediatric dilated cardiomyopathy (DCM) patients. We investigated the...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-018-2021-6
更新日期:2019-02-01 00:00:00
abstract::This report describes a rare case of complete transposition of the great arteries (TGA) with an intramural right coronary artery arising well above the sinotubular junction. Additionally in this case, the left circumflex artery arose anomalously as a branch from the right coronary. Identification of this anatomic anom...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-011-0108-4
更新日期:2012-01-01 00:00:00
abstract::When the common pulmonary vein fails to develop, the embryonic connections of the pulmonary veins to one or more of the systemic veins almost always persist. Anomalous pulmonary venous connections to the inferior vena cava (IVC) are typically characterized by hypoplasia of the involved pulmonary veins and pulmonary ar...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-005-0920-9
更新日期:2005-11-01 00:00:00
abstract::Color-coded two-dimensional (2D) echocardiography confirmed the presence of severe congenital mitral regurgitation in an 8-month-old infant. Intraoperative inspection revealed an isolated perforation in the anterior leaflet. ...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/BF02239570
更新日期:1990-04-01 00:00:00
abstract::Despite improved outcomes following modifications to the Fontan technique, significant morbidity and mortality persist. We sought to determine if abnormal pre-Fontan catheterization hemodynamic data will predict postoperative prolonged hospital stay (PHLOS) and adverse post-discharge outcomes. This is a retrospective ...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-020-02430-y
更新日期:2020-12-01 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::We report a unique case of tricuspid and pulmonary atresia with idiopathic progressive ductus arteriosus restriction in utero. Diligent predelivery planning and a controlled delivery environment led to a favorable outcome. ...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-012-0391-8
更新日期:2013-08-01 00:00:00
abstract::Ventricular dysfunction in patients after Fontan-like operations (FLOs) is a serious complication that might contribute to poor long-term results. Ischemic heart disease will have debilitating consequences on a Fontan heart. Ten patients (15.8 +/- 5.01 years) after FLO had transesophageal echocardiography and cardiac ...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-002-0355-5
更新日期:2003-07-01 00:00:00
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journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-008-9234-z
更新日期:2008-07-01 00:00:00
abstract::Congenitally corrected transposition of the great arteries is a rare anomaly that is thought to arise from a defect in looping of the primitive cardiac tube. Cor triatriatum is another rare congenital cardiac anomaly due to faulty incorporation of the common pulmonary vein into the left atrium. We present a rare case ...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-011-9912-0
更新日期:2011-04-01 00:00:00
abstract::Non-invasive evaluation of right ventricular (RV) systolic function in neonates with pulmonary hypertension (PH) with traditional metrics including RV fractional area change (FAC) and tricuspid annular systolic plane excursion (TAPSE) has improved outcomes. Apical three-chamber (3C) RV-FAC, a novel tripartite assessme...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-020-02376-1
更新日期:2020-08-01 00:00:00
abstract::The nuclear cross-sectional area of the muscular fibers from a series of myocardial bridges was analyzed and compared to both the adjacent and underlying myocardial fibers. The series came from 12 hearts of children, ranging in age from 24 h to 2 years, with diverse forms of congenital heart disease, which caused left...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/BF02238364
更新日期:1990-10-01 00:00:00
abstract::We sought to document morbidities and growth for patients with hypoplastic left heart syndrome (HLHS) to inform the initial surgical decision and understand healthcare needs. Data were obtained on 137 patients with HLHS, born between 1989 and 1994, who survived staged surgery ( n = 62) or transplantation ( n = 75) and...
journal_title:Pediatric cardiology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00246-003-0471-x
更新日期:2004-01-01 00:00:00
abstract::Fifty infants with interrupted aortic arch (IAA), admitted between 1979 and 1988, were reviewed. They usually presented early in severe cardiac failure or shock. In the initial 5-year period, 17 of the 21 infants underwent diagnostic or confirmatory cardiac catheterization, in contrast with the latter 5 years when onl...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/BF00838779
更新日期:1992-10-01 00:00:00
abstract::Fetal atrioventricular dissociation is a dysrhythmia associated with significant antenatal and postnatal morbidity and mortality. We present a case of a 19-week-old fetus with atrioventricular dissociation, which spontaneously resolved. The mother had no signs of autoimmune disease. The fetus had an uneventful gestati...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s002469900366
更新日期:1998-11-01 00:00:00
abstract::M-mode and 2-dimensional (2D) echocardiographic imaging are routinely used to quantify left-ventricular (LV) size and function in pediatric patients with dilated cardiomyopathy (DCM). The reproducibility of and correlation between these techniques are unknown. This analysis sought to compare interreader, intrareader, ...
journal_title:Pediatric cardiology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00246-013-0835-9
更新日期:2014-04-01 00:00:00