Lack of association of the 3'-UTR polymorphism (rs1017) in the ISL1 gene and risk of congenital heart disease in the white population.

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 Cardiol

journal_title

Pediatric cardiology

authors

Cresci M,Vecoli C,Foffa I,Pulignani S,Ait-Ali L,Andreassi MG

doi

10.1007/s00246-012-0578-z

subject

Has Abstract

pub_date

2013-04-01 00:00:00

pages

938-41

issue

4

eissn

0172-0643

issn

1432-1971

journal_volume

34

pub_type

杂志文章
  • The Use and Outcomes of Small, Medium and Large Premounted Stents in Pediatric and Congenital Heart Disease.

    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

    authors: Boe BA,Zampi JD,Schumacher KR,Yu S,Armstrong AK

    更新日期:2016-12-01 00:00:00

  • Health-related quality of life assessment in children followed in a cardiomyopathy clinic.

    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

    authors: Friess MR,Marino BS,Cassedy A,Wilmot I,Jefferies JL,Lorts A

    更新日期:2015-03-01 00:00:00

  • Reducing Radiation Exposure in Cardiac Catheterizations for Congenital Heart Disease.

    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

    authors: Patel C,Grossman M,Shabanova V,Asnes J

    更新日期:2019-03-01 00:00:00

  • Lipoprotein (a): Examination of Cardiovascular Risk in a Pediatric Referral Population.

    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

    authors: Qayum O,Alshami N,Ibezim CF,Reid KJ,Noel-MacDonnell JR,Raghuveer G

    更新日期:2018-12-01 00:00:00

  • Incidence of femoral vein occlusion after catheter ablation in children: evaluation with magnetic resonance angiography.

    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

    authors: Miga DE,McKellar LF,Denslow S,Wiles HB,Case CL,Gillette PC

    更新日期:1997-05-01 00:00:00

  • Transcatheter management of subtotal cor triatriatum sinister: a rare anomaly.

    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

    authors: Sivakumar K,Satish R,Tailor K,Coelho R

    更新日期:2008-07-01 00:00:00

  • Ultrasound assessment of ductal closure, pulmonary blood flow velocity, and systolic pulmonary arterial pressure in healthy neonates.

    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:

    authors: Freund M,Wranne B

    更新日期:1986-01-01 00:00:00

  • Congenital giant aneurysm of the left innominate vein: is surgical treatment required?

    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

    authors: Tsuji A,Katada Y,Tanimoto M,Fujita I

    更新日期:2004-07-01 00:00:00

  • Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.

    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

    authors: Burn J,Baraitser M,Hughes DT,Saldana-Garcia P,Taylor JF

    更新日期:1984-01-01 00:00:00

  • The Action of Smooth Muscle Cell Potassium Channels in the Pathology of Pulmonary Arterial Hypertension.

    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

    authors: Hayabuchi Y

    更新日期:2017-01-01 00:00:00

  • Successful emergent coronary thrombolysis in a neonate with Kawasaki's disease.

    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

    authors: Karia VR,Hescock GC,Gedalia A,Ross-Ascuitto N

    更新日期:2010-11-01 00:00:00

  • Cardiac Rhythm Disturbances in Heterotaxy Syndrome.

    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

    authors: Ozawa Y,Asakai H,Shiraga K,Shindo T,Hirata Y,Hirata Y,Inuzuka R

    更新日期:2019-06-01 00:00:00

  • Isolated congenital left ventricular diverticulum.

    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

    authors: Wu JM,Yu CY

    更新日期:1996-07-01 00:00:00

  • Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D): Review of 16 Pediatric Cases and a Proposal of Modified Pediatric Criteria.

    abstract::Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heritable cardiomyopathy characterized by fibro-fatty replacement of right ventricular myocardium. Diagnostic criteria, established in 1994 and modified in 2010, are based on predominately adult manifestations of ARVC/D. The goal of this paper is ...

    journal_title:Pediatric cardiology

    pub_type: 杂志文章

    doi:10.1007/s00246-015-1327-x

    authors: Deshpande SR,Herman HK,Quigley PC,Shinnick JK,Cundiff CA,Caltharp S,Shehata BM

    更新日期:2016-04-01 00:00:00

  • Ventricular Arterial Coupling: A Novel Echocardiographic Risk Factor for Disease Progression in Pediatric Dilated Cardiomyopathy.

    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

    authors: Capone CA,Lamour JM,Lorenzo J,Tria B,Ye K,Hsu DT,Mahgerefteh J

    更新日期:2019-02-01 00:00:00

  • Vertically oriented intramural right coronary artery in complete transposition of the great arteries: prospective recognition and surgical implications.

    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

    authors: Johnson JA,Burkhart HM,O'Leary PW

    更新日期:2012-01-01 00:00:00

  • Isolated left-sided scimitar vein connecting all left pulmonary veins to the right inferior vena cava.

    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

    authors: Juraszek AL,Cohn H,Van Praagh R,Van Praagh S

    更新日期:2005-11-01 00:00:00

  • Congenital mitral regurgitation caused by a perforation in the anterior leaflet: perioperative evaluation by color-coded Doppler echocardiography.

    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

    authors: Schranz D,Oelert H,Iversen S,Schuind A,Huth R,Jüngst BK,Stopfkuchen H,Erbel R

    更新日期:1990-04-01 00:00:00

  • Pre-Fontan Cardiac Catheterization Data as a Predictor of Prolonged Hospital Stay and Post-Discharge Adverse Outcomes Following the Fontan Procedure: A Single-Center Study.

    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

    authors: Guruchandrasekar SH,Dakin H,Kadochi M,Bhatia A,Bardales L,Johnston M,Piggott KD

    更新日期:2020-12-01 00:00:00

  • Radiofrequency catheter ablation of tachycardia in patients with congenital heart disease.

    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

    authors: Hebe J,Hansen P,Ouyang F,Volkmer M,Kuck KH

    更新日期:2000-11-01 00:00:00

  • Tricuspid atresia with progressive ductal restriction in a fetus.

    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

    authors: Lowenthal A,Lal A,Selamet Tierney ES,Tacy TA

    更新日期:2013-08-01 00:00:00

  • Myocardial perfusion and coronary flow reserve assessed by positron emission tomography in patients after Fontan-like operations.

    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

    authors: Hauser M,Bengel FM,Kühn A,Sauer U,Nekolla SG,Eicken A,Schwaiger M,Hess J

    更新日期:2003-07-01 00:00:00

  • Anomalous origin of left pulmonary artery from aorta with atrial septal defect.

    abstract::Anomalous origin of left pulmonary artery (ALPA) from aorta with atrial septal defect (ASD) is a rare congenital cardiac malformation. We report a case of ALPA from the aorta with ASD in a 1.8-kg baby. Repair was needed at an early age due to progressive congestive heart failure. Surgical correction was performed with...

    journal_title:Pediatric cardiology

    pub_type: 杂志文章

    doi:10.1007/s00246-008-9234-z

    authors: Lee JH,Jung TE,Lee YH

    更新日期:2008-07-01 00:00:00

  • Congenitally corrected transposition of the great arteries in a patient with cor triatriatum: a rare combination.

    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

    authors: Jayranganath M,Subramanian A,Manjunath CN

    更新日期:2011-04-01 00:00:00

  • Tripartite Assessment of Right Ventricular Systolic Function in Persistent Pulmonary Hypertension of the Newborn.

    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

    authors: Chikkabyrappa SM,Critser P,Roane J,Buddhe S,Tretter JT

    更新日期:2020-08-01 00:00:00

  • Morphometric analysis of myocardial bridges in children with ventricular hypertrophy.

    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

    authors: Reig J,Ruiz de Miguel C,Moragas A

    更新日期:1990-10-01 00:00:00

  • Morbidities in patients with hypoplastic left heart syndrome.

    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

    authors: Jenkins PC,Flanagan MF,Jenkins KJ,Sargent JD,Canter CE,Chinnock RE,Vincent RN,O'Connor GT

    更新日期:2004-01-01 00:00:00

  • Interrupted aortic arch in infancy: a 10-year experience.

    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

    authors: Menahem S,Rahayoe AU,Brawn WJ,Mee RB

    更新日期:1992-10-01 00:00:00

  • Spontaneous resolution of atrioventricular dissociation in utero.

    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

    authors: Boris JR,Drose JA,Schaffer MS,Shaffer EM

    更新日期:1998-11-01 00:00:00

  • Variability of M-mode versus two-dimensional echocardiography measurements in children with dilated cardiomyopathy.

    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

    authors: Lee CK,Margossian R,Sleeper LA,Canter CE,Chen S,Tani LY,Shirali G,Szwast A,Tierney ES,Campbell MJ,Golding F,Wang Y,Altmann K,Colan SD,Pediatric Heart Network Investigators.

    更新日期:2014-04-01 00:00:00