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 Disjournal_title
Congenital heart diseaseauthors
Sabbaghian N,Digilio MC,Blue GM,Revil T,Winlaw DS,Foulkes WDdoi
10.1111/chd.12578subject
Has Abstractpub_date
2018-05-01 00:00:00pages
401-406issue
3eissn
1747-079Xissn
1747-0803journal_volume
13pub_type
杂志文章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
更新日期:2018-03-01 00:00:00
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
更新日期:2008-07-01 00:00:00
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
更新日期:2016-07-01 00:00:00
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
更新日期:2012-05-01 00:00:00
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
更新日期:2010-11-01 00:00:00
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
更新日期:2018-05-01 00:00:00
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
更新日期:2008-01-01 00:00:00
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
更新日期:2014-01-01 00:00:00
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
更新日期:2011-05-01 00:00:00
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
更新日期:2011-05-01 00:00:00
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
更新日期:2008-03-01 00:00:00
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
更新日期:2015-03-01 00:00:00
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
更新日期:2007-07-01 00:00:00
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
更新日期:2009-09-01 00:00:00
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
更新日期:2017-07-01 00:00:00
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
更新日期:2008-09-01 00:00:00
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
更新日期:2012-01-01 00:00:00
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
更新日期:2009-11-01 00:00:00
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
更新日期:2011-07-01 00:00:00
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
更新日期:2019-11-01 00:00:00
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
更新日期:2015-01-01 00:00:00
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
更新日期:2013-03-01 00:00:00
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
更新日期:2013-07-01 00:00:00
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
更新日期:2009-05-01 00:00:00
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
更新日期:2007-03-01 00:00:00
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
更新日期:2017-09-01 00:00:00
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
更新日期:2019-09-01 00:00:00
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
更新日期:2017-12-01 00:00:00
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
更新日期:2018-05-01 00:00:00
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
更新日期:2018-09-01 00:00:00