Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.

Abstract:

OBJECTIVE:We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a report linking Dicer1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in transposition of the great arteries. DESIGN:We used Fluidigm access array followed by next generation sequencing to screen for variants in the coding exons, their exon/intron boundaries and the 3' untranslated region of DICER1 in patient DNA. CASES:Germline DNA was collected from 129 patients with either sporadic or familial forms of transposition of the great arteries from two sites in Australia and Italy. RESULTS:Most cases (85%) did not have any germline DICER1 variants. In the remaining 15% of cases, we identified 16 previously reported variants (5 synonymous, 6 intronic, and 5 missense) and 2 novel variants (1 intronic and 1 missense). None of the identified variants were predicted to be pathogenic. CONCLUSIONS:Here, we report that neither likely pathogenic nor pathogenic variants in DICER1 appear to play a major role in transposition of the great arteries.

journal_name

Congenit Heart Dis

journal_title

Congenital heart disease

authors

Sabbaghian N,Digilio MC,Blue GM,Revil T,Winlaw DS,Foulkes WD

doi

10.1111/chd.12578

subject

Has Abstract

pub_date

2018-05-01 00:00:00

pages

401-406

issue

3

eissn

1747-079X

issn

1747-0803

journal_volume

13

pub_type

杂志文章
  • Fetal heart size measurements as new predictors of homozygous α-thalassemia-1 in mid-pregnancy.

    abstract:OBJECTIVE:To evaluate the efficacy of using fetal heart size measurements derived from axial echocardiography to predict homozygous α-thalassemia-1. DESIGN:Prospective diagnostic study. SETTING:The carrier rate of α-thalassemia-1 (-/αα) in China's Guangxi Zhuang Autonomous Region is approximately 15%. If both parents...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12568

    authors: Li X,Qiu X,Huang H,Zhao Y,Li X,Li M,Tian X

    更新日期:2018-03-01 00:00:00

  • Protein-losing enteropathy after the Fontan operation: associations and predictors of clinical outcome.

    abstract:OBJECTIVE:We sought to define what clinical parameters were related to the ultimate outcome in Fontan patients who had developed protein-losing enteropathy (PLE). BACKGROUND:PLE is a serious complication of the Fontan operation. Several preoperative and perioperative findings are associated with later PLE. However, th...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2008.00200.x

    authors: Silvilairat S,Cabalka AK,Cetta F,Grogan M,Hagler DJ,O'Leary PW

    更新日期:2008-07-01 00:00:00

  • Clinical Experience of Transcatheter Closure for Residual Ventricular Septal Defect in Pediatric Patients.

    abstract:BACKGROUND:Open cardiac surgery has traditionally been the gold standard for repair of ventricular septal defect (VSD). The inherent risks and complications associated with open surgery and the incidence of postoperative residual VSD are significant disadvantages of the open surgical approach. OBJECTIVE:To evaluate th...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12357

    authors: Zhou W,Li F,Fu L,Gao W,Guo Y,Liu T,Huang M,Zhang Y

    更新日期:2016-07-01 00:00:00

  • Hydrogel expandable coils for vascular occlusion in congenital cardiovascular disease: a single center experience.

    abstract:OBJECTIVE:  The objective of this study is to evaluate the safety and feasibility of the AZUR hydrogel-polymer coated platinum coil (hydrocoil) for vascular occlusion in patients with congenital cardiovascular disease (CCVD). DESIGN:  Retrospective case review. PATIENTS:  Eight patients with CCVD who underwent attemp...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2011.00583.x

    authors: Goldstein BH,Aiyagari R,Bocks ML,Armstrong AK

    更新日期:2012-05-01 00:00:00

  • An unusual case of Brugada syndrome in a 10-year-old child with fevers.

    abstract::Brugada syndrome is an arrhythmogenic disease characterized by a pattern of ST segment elevation in the right precordial leads on an electrocardiogram with an increased risk of sudden cardiac death. It is primarily reported in adults with limited data about the prevalence, prognosis, and long-term management in childr...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2010.00382.x

    authors: Zaidi AN

    更新日期:2010-11-01 00:00:00

  • Decreased inappropriate shocks with new generation ICDs in children and patients with congenital heart disease.

    abstract:OBJECTIVE:Inappropriate implantable cardioverter defibrillator (ICD) shocks in children and patients with congenital heart disease (CHD) remain a major complication of device therapy, occurring in as many as 50% of children with ICDs. New generation devices include algorithms designed to minimize inappropriate shocks. ...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12585

    authors: Goldstein SA,LaPage MJ,Dechert BE,Serwer GA,Yu S,Lowery RE,Bradley DJ

    更新日期:2018-05-01 00:00:00

  • Endovascular stenting for native coarctation of the aorta is an effective alternative to surgical intervention in older children.

    abstract:OBJECTIVE:Assess the early and intermediate results with respect to blood pressure control in older children undergoing endovascular stenting for native coarctation of the aorta. DESIGN:Eleven hypertensive patients (10 +/- 3 years of age) underwent endovascular stenting via standard techniques for native coarctation o...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2007.00148.x

    authors: Weber HS,Cyran SE

    更新日期:2008-01-01 00:00:00

  • Long QT syndrome unmasked by dexmedetomidine: a case report.

    abstract::Dexmedetomidine is a selective alpha-2 adrenergic agonist that is used frequently for short-term sedation in children. It has been noted to cause hypertension, hypotension, bradycardia, and sinus pauses; however, QTc prolongation has not been reported with dexmedetomidine administration. We describe a case of marked Q...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12055

    authors: Burns KM,Greene EA

    更新日期:2014-01-01 00:00:00

  • Transhepatic approach for extracardiac inferior cavopulmonary connection stent fenestration.

    abstract::We report on a 3-year-old male who underwent transcatheter stent fenestration of the inferior portion of an extracardiac total cavopulmonary connection in the setting of hypoplastic left heart syndrome. Transhepatic approach, following an unsuccessful attempt from the femoral vein facilitated delivery of a diabolo-sha...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2011.00488.x

    authors: Kenny D,McMahon C,Walsh KP

    更新日期:2011-05-01 00:00:00

  • Atresia of abdominal aorta in neonate with recanalization and development of normal aortic architecture: case report and review of literature.

    abstract::This is a case report reviewing the presentation and clinical course of a patient diagnosed with abdominal aortic atresia at the level caudal to the superior mesenteric artery. Patients with abdominal aortic atresia need to be evaluated for associated underlying syndromes or diseases. Although the prognosis for this d...

    journal_title:Congenital heart disease

    pub_type: 杂志文章,评审

    doi:10.1111/j.1747-0803.2010.00454.x

    authors: Brown J,Shehata BM,Campbell R

    更新日期:2011-05-01 00:00:00

  • Diagnostic role of magnetic resonance imaging in identifying aortic arch anomalies.

    abstract:PURPOSE:The aim of this article was to assess the role of MRI in the diagnosis and management of a variety of complex aortic arch anomalies. MATERIALS AND METHODS:Imaging was performed on a 1.5T Philips Gyroscan Intera. We retrospectively reviewed all cardiac MR scans performed from November 2003 to February 2007 at o...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2008.00174.x

    authors: Cantinotti M,Hegde S,Bell A,Razavi R

    更新日期:2008-03-01 00:00:00

  • Caregiver anxiety due to interstage feeding concerns.

    abstract:INTRODUCTION:Improved weight gain during the interstage (IS) period has been shown to improve overall outcomes in patients with single ventricle physiology (SVP). This emphasis on nutrition may have untoward effects, such as increasing anxiety/stress levels in caregivers, who are already known to be at risk for increas...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12257

    authors: Stewart J,Dempster R,Allen R,Miller-Tate H,Dickson G,Fichtner S,Principe AJ,Fonseca R,Nicholson L,Cua CL

    更新日期:2015-03-01 00:00:00

  • Congenital left ventricular splint in an adult patient with unrepaired anomalous left coronary artery from the pulmonary artery.

    abstract::A 24-year-old woman presented with a recent increase in dyspnea on exertion and development of presyncope. The patient stated that she has reproducible episodes of dizziness and near fainting when she climbs a flight of stairs and activity is limited to a slow gait. ...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2007.00110.x

    authors: Sabbath AM,Trivedi K,Klewer SE,Sorrell VL

    更新日期:2007-07-01 00:00:00

  • Acute effects of single-site pacing from the left and right ventricle on ventricular function and ventricular-ventricular interactions in children with normal hearts.

    abstract:OBJECTIVE:We studied, as a physiological benchmark, acute effects of right ventricular (RV) apical, RV outflow, and left ventricular (LV) pacing in children with normal cardiac function on LV and RV function and ventricular-ventricular interactions. DESIGN:The design of the study was a prospective, acute intervention....

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2009.00327.x

    authors: Friedberg MK,Dubin AM,Van Hare GF,McDaniel G,Niksch A,Rosenthal DN

    更新日期:2009-09-01 00:00:00

  • Impaired atrioventricular transport in patients with transposition of the great arteries palliated by atrial switch and preserved systolic right ventricular function: A magnetic resonance imaging study.

    abstract:OBJECTIVES:We aimed (1) determine if systemic right ventricle filling parameters influence systemic right ventricle stroke volume in adult patients with D-transposition of the great arteries (D-TGA) palliated by atrial switch, using cardiac magnetic resonance imaging and echocardiography, and (2) to study relationship ...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12472

    authors: Ladouceur M,Kachenoura N,Soulat G,Bollache E,Redheuil A,Azizi M,Delclaux C,Chatellier G,Boutouyrie P,Iserin L,Bonnet D,Mousseaux E

    更新日期:2017-07-01 00:00:00

  • Echocardiography and management of sick neonates in the intensive care unit.

    abstract::To evaluate the influence of echocardiographic examination in the clinical management of the sick neonate, 241 patients, admitted to the neonatal intensive care unit of a tertiary referral center that had echocardiograms with data available for review, were enrolled in a retrospective study. Asymptomatic murmurs (45%)...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2008.00209.x

    authors: Kadivar M,Kiani A,Kocharian A,Shabanian R,Nasehi L,Ghajarzadeh M

    更新日期:2008-09-01 00:00:00

  • Pathologic features of dilated cardiomyopathy with localized noncompaction in a child with deletion 1p36 syndrome.

    abstract::Dilated cardiomyopathy and ventricular noncompaction have been reported in association with deletion 1p36 syndrome. Previous descriptions include echocardiographic and/or gross pathologic descriptions. There are no previous reports of microscopic findings. We report a case with descriptions of echocardiographic, gross...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2011.00514.x

    authors: Pearce FB,Litovsky SH,Dabal RJ,Robin N,Dure LJ,George JF,Kirklin JK

    更新日期:2012-01-01 00:00:00

  • Population-based assessment of familial inheritance and neurologic comorbidities among patients with an isolated atrial septal defect.

    abstract:BACKGROUND:Interatrial shunts, caused by either atrial septal defect (ASD) or patent foramen ovale, have been reported to have a familial association. We sought to examine the familial risk of isolated interatrial shunt and explore associated comorbidities of stroke, transient ischemic attack (TIA), and migraine using ...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2009.00340.x

    authors: Steenblik MH,Mineau GP,Pimentel R,Michaels AD

    更新日期:2009-11-01 00:00:00

  • Hyponatremia and its association with the neurohormonal activity and adverse clinical events in children and young adult patients after the Fontan operation.

    abstract:BACKGROUND:Hyponatremia (HN) is relatively common in adults with congenital heart disease and is a powerful predictor of mortality. However, the precise relationship of HN to the Fontan pathophysiology remains unknown. PURPOSE:Our study aimed to clarify the association of HN to the Fontan pathophysiology. METHODS AND...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2011.00503.x

    authors: Ohuchi H,Negishi J,Ono S,Miyake A,Toyota N,Tamaki W,Miyazaki A,Yamada O

    更新日期:2011-07-01 00:00:00

  • Exercise responses in children and adults with a Fontan circulation at simulated altitude.

    abstract:BACKGROUND:Traveling to high altitude has become more popular. High-altitude exposure causes hypobaric hypoxia. Exposure to acute high altitude, during air travel or mountain stays, seems to be safe for most patients with congenital heart disorders (CHD). Still, current guidelines for CHD patients express concerns rega...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12850

    authors: Takken T,Evertse A,de Waard F,Spoorenburg M,Kuijpers M,Schroer C,Hulzebos EH

    更新日期:2019-11-01 00:00:00

  • Outcomes of tracheostomy following congenital heart surgery: a contemporary experience.

    abstract:INTRODUCTION:Following congenital heart surgery, pediatric patients may experience persistent respiratory failure that requires tracheostomy placement. Currently, definitive knowledge of the optimal timing for tracheostomy placement in this patient population is lacking. METHODS:An 8-year retrospective review of 17 pe...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12192

    authors: Costello JP,Emerson DA,Shu MK,Peer SM,Zurakowski D,Reilly BK,Klugman D,Jonas RA,Nath DS

    更新日期:2015-01-01 00:00:00

  • Repair and follow-up of Tetralogy of Fallot with pulmonary stenosis.

    abstract::Tetralogy of Fallot is the most common cyanotic congenital heart defect. Advances in surgical technique and postoperative care have improved survival which is now very good. Patients now face long-term morbidities such as reduced exercise tolerance and arrthymias. Cardiologists caring for these patients are confronted...

    journal_title:Congenital heart disease

    pub_type: 杂志文章,评审

    doi:10.1111/chd.12042

    authors: Hill G

    更新日期:2013-03-01 00:00:00

  • Cardiovascular magnetic resonance imaging in congenital heart disease as an alternative to diagnostic invasive cardiac catheterization: a single center experience.

    abstract:OBJECTIVE:The study aims to assess whether the increasing use of cardiovascular magnetic resonance imaging in place of diagnostic cardiac catheterization in the management of pediatric patients with congenital heart disease has had an impact on pediatric cardiac care. DESIGN:Retrospective analysis of data was used. S...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12032

    authors: Heathfield E,Hussain T,Qureshi S,Valverde I,Witter T,Douiri A,Bell A,Beerbaum P,Razavi R,Greil GF

    更新日期:2013-07-01 00:00:00

  • Adults with congenital heart disease: psychological needs and treatment preferences.

    abstract:OBJECTIVE:Approximately one-third of adult congenital heart disease (ACHD) patients have mood or anxiety disorders, the majority of which go untreated. The extent to which this group of patients is interested in psychological services is, however, unknown. This study investigated the perceived psychological needs of pa...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2009.00280.x

    authors: Kovacs AH,Bendell KL,Colman J,Harrison JL,Oechslin E,Silversides C

    更新日期:2009-05-01 00:00:00

  • Video-assisted thoracoscopic surgery: is it a superior technique for the division of vascular rings in children?

    abstract:OBJECTIVE:The use of video-assisted thoracoscopic surgery (VATS) is becoming increasingly common in the treatment of congenital heart defects, particularly for the division of vascular rings. We compare the short-term outcomes of vascular ring division by VATS as opposed to open thoracotomy and discuss new issues raise...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/j.1747-0803.2007.00086.x

    authors: Kogon BE,Forbess JM,Wulkan ML,Kirshbom PM,Kanter KR

    更新日期:2007-03-01 00:00:00

  • Stress echocardiography: An overview for use in pediatric and congenital cardiology.

    abstract::Currently, the role of stress echocardiography primarily resides in diagnosing acquired coronary artery disease (CAD) in adults. Besides an increasing concern for traditional CAD in young patients due to obesity and other chronic pediatric diseases, there is also a growing population of adolescents and young adults wi...

    journal_title:Congenital heart disease

    pub_type: 杂志文章,评审

    doi:10.1111/chd.12495

    authors: Ermis P

    更新日期:2017-09-01 00:00:00

  • Health care-associated infections are associated with increased length of stay and cost but not mortality in children undergoing cardiac surgery.

    abstract:INTRODUCTION:Health care-associated infections (HAIs) increase mortality, length of stay, and cost in hospitalized patients. The incidence of and risk factors for developing HAIs in the pediatric population after cardiac surgery have been studied. This study evaluates the impact of HAIs on length of stay, inpatient mor...

    journal_title:Congenital heart disease

    pub_type: 杂志文章,多中心研究

    doi:10.1111/chd.12779

    authors: Tweddell S,Loomba RS,Cooper DS,Benscoter AL

    更新日期:2019-09-01 00:00:00

  • Epigenetics for the pediatric cardiologist.

    abstract::A genetic basis of congenital heart disease (CHD) has been known for decades. In addition to the sequence of the genome, the contribution of epigenetics to pediatric cardiology is increasingly recognized. Multiple epigenetic mechanisms, including DNA methylation, histone modification, and RNA-based regulation, are kno...

    journal_title:Congenital heart disease

    pub_type: 杂志文章,评审

    doi:10.1111/chd.12543

    authors: Spearman AD

    更新日期:2017-12-01 00:00:00

  • Preoperative echocardiographic measures in interrupted aortic arch: Which ones best predict surgical approach and outcome?

    abstract:OBJECTIVE:It is unclear whether neonates with interrupted aortic arch (IAA) and a smaller left ventricular outflow tract may have improved outcomes with a Yasui operation (ventricular outflow bypass procedure) over a primary complete repair. This study sought to identify preoperative echocardiographic parameters to dif...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12599

    authors: Abarbanell G,Border WL,Schlosser B,Morrow G,Kelleman M,Sachdeva R

    更新日期:2018-05-01 00:00:00

  • A qualitative assessment of pediatric cardiology core content: Comments from Kentucky trainees, pediatricians, and pediatric cardiologists.

    abstract:OBJECTIVE:The 2016 American Board of Pediatrics (ABP) content outline is comprehensive, including more than 50 cardiology-specific objectives within eight content areas. This study complements the quantitative analysis of a Kentucky-wide survey of trainees, pediatricians, and pediatric cardiologists asking them to iden...

    journal_title:Congenital heart disease

    pub_type: 杂志文章

    doi:10.1111/chd.12626

    authors: Neal AE,Lehto E,Miller KH,Davis E,Ziegler C

    更新日期:2018-09-01 00:00:00