Abstract:
OBJECTIVE:Traditionally, karyotype and fluorescence in situ hybridization (FISH) were used for cytogenetic testing of infants with congenital heart disease (CHD) who underwent cardiac surgery at our institution. Recently, chromosome microarray analysis (CMA) has been performed in lieu of the traditional tests. A standardized approach to cytogenetic testing does not exist in this population. The purpose of this study was to assess the utility of CMA based on our current ordering practice. DESIGN:We reviewed the records of all infants (<1 year old) who underwent cardiac surgery at our institution from January 2010 to June 2013. Data included results of all cytogenetic testing performed. Diagnostic yield was calculated as the percentage of significant abnormal results obtained by each test modality. Patients were grouped by classification of CHD. RESULTS:Two hundred seventy-five (51%) of 535 infants who underwent cardiac surgery had cytogenetic testing. Of those tested, 154 (56%) had multiple tests performed and at least 18% were redundant or overlapping. The utilization of CMA has increased each year since its implementation. The diagnostic yield for karyotype, FISH and CMA was 10%, 12%, and 14%, respectively. CMA yield was significantly higher in patients with septal defects (33%, P = .01) compared with all other CHD classes. CMA detected abnormalities of unknown clinical significance in 13% of infants tested. CONCLUSIONS:In our center, redundant cytogenetic testing is frequently performed in infants undergoing cardiac surgery. The utilization of CMA has increased over time and abnormalities of unknown clinical significance are detected in an important subset of patients. A screening algorithm that risk-stratifies based on classification of CHD and clinical suspicion may provide a practical, data-driven approach to genetic testing in this population and limit unnecessary resource utilization.
journal_name
Congenit Heart Disjournal_title
Congenital heart diseaseauthors
Buckley JR,Kavarana MN,Chowdhury SM,Scheurer MAdoi
10.1111/chd.12241subject
Has Abstractpub_date
2015-05-01 00:00:00pages
E131-8issue
3eissn
1747-079Xissn
1747-0803journal_volume
10pub_type
杂志文章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: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::This review synthesizes the empirical literature on outcomes and experiences of transfer and transition from pediatric to adult care for young people with congenital heart disease. A systematic review of papers published between January 2001 and May 2013 that examined outcomes or experiences of transfer and transition...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12251
更新日期:2015-09-01 00:00:00
abstract::"Frontiers in Fontan Failure" was the title of a 2015 conference sponsored by Children's Healthcare of Atlanta and Emory University School of Medicine. In what is hoped to be the first of many such gatherings, speakers and attendees gathered to discuss the problem of long-term clinical deterioration in these patients....
journal_title:Congenital heart disease
pub_type:
doi:10.1111/chd.12407
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:Intravascular stents are now routinely used to treat young patients with vascular stenoses. Future stent redilations are often necessary to account for somatic growth. The purpose of this study was to compile a database of characteristics for stents commonly used in the treatment of congenital heart disease p...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12399
更新日期:2016-12-01 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:OBJECTIVE:Congenital cardiac defects represent the most common group of birth defects, affecting an estimated six per 1000 births. Genetic characterization of patients and families with cardiac defects has identified a number of genes required for heart development. Yet, despite the rapid pace of these advances, mutati...
journal_title:Congenital heart disease
pub_type: 杂志文章,meta分析
doi:10.1111/chd.12179
更新日期:2015-05-01 00:00:00
abstract:INTRODUCTION:The right ventricle (RV) supports the systemic circulation in patients who have had an intraatrial repair of transposition of the great arteries or have congenitally corrected transposition. There is concern about the ability of a systemic RV to support the additional volume load of pregnancy, and previous...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12001
更新日期:2013-07-01 00:00:00
abstract:OBJECTIVE:Deficient retro-aortic rim has been identified as a risk factor for device erosion following trans-catheter closure of atrial septal defects (ASDs). Transthoracic echocardiography (TTE) is the primary screening method for subjects for possible device closure of ASD, but its reliability in measuring retro-aort...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12226
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVE:Nurse practitioners (NPs) have an established role for delivering competent care to patients in the primary care setting. The aim of this study was to compare satisfaction of patients managed by NPs vs. physicians in the outpatient adult congenital heart disease (CHD) clinic. DESIGN:A prospective study condu...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12273
更新日期:2015-09-01 00:00:00
abstract::We describe a simple technique for chest wall reconstruction in pentalogy of Cantrell using split-thickness cartilage grafts. This technique provides a robust reconstruction, gives immediate and excellent cosmetic results, allows for skeletal and tissue growth, and avoids the use of synthetic material. ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2012.00697.x
更新日期:2013-01-01 00:00:00
abstract::Carditis is a common manifestation of adult patients with Lyme disease affecting 4-10% of Lyme patients in the United States. However, children with Lyme disease rarely present with acute carditis. The management of pediatric patients with complete heart block (CHB) secondary to Lyme carditis has not been well describ...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/j.1747-0803.2007.00122.x
更新日期:2007-09-01 00:00:00
abstract:BACKGROUND:Physician burnout has many undesirable consequences, including negative impact on patient care delivery and physician career satisfaction. Electronic health records (EHRs) may exacerbate burnout by increasing physician workload. OBJECTIVE:To determine burnout in adult congenital heart disease (ACHD) special...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12745
更新日期:2019-05-01 00:00:00
abstract::Singleton pregnancy in patients with single ventricle after the Fontan operation has been reported with significant offspring and maternal complications. We report a twin pregnancy and premature delivery, in a patient following the Fontan operation. ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12054
更新日期:2013-11-01 00:00:00
abstract::The Fontan operation has gone through multiple incarnations since Fontan and Baudet's initial description in 1971. Through the medical dossier of a patient with a single ventricle, we plot the history of medical, surgical, and percutaneous interventions over the past 40 years, specifically focusing on the Fontan proce...
journal_title:Congenital heart disease
pub_type: 历史文章,杂志文章,评审
doi:10.1111/j.1747-0803.2007.00065.x
更新日期:2007-01-01 00:00:00
abstract:AIMS:To outline the etiology, clinical course, short-term survival to discharge and neurological outcome of infants (<1 yr) with new cardiac diagnoses presenting to a pediatric intensive care (PICU) unit with acute cardiac compromise. METHODS:Retrospective search of a computerized database and medical case notes for a...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2010.00430.x
更新日期:2010-09-01 00:00:00
abstract:BACKGROUND:Robust risk-adjustment algorithms are often necessary if data from clinical registries is to be used to compare rates of important clinical outcomes between participating centers. Although such algorithms have been successfully developed for surgical and catheter-based cardiac interventions in children, outc...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12050
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVE:This study aimed to quantitatively compare findings of emotional functioning across studies of adolescents and adults with congenital heart disease (CHD) through meta-analysis. DESIGN:The current meta-analysis included 22 studies of adolescent and adult survivors of CHD who completed measures of emotional fu...
journal_title:Congenital heart disease
pub_type: 杂志文章,meta分析,评审
doi:10.1111/chd.12178
更新日期:2015-01-01 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:OBJECTIVE:The surgical management of adults with congenital heart disease (ACHD) offers a great challenge, with a large number of anomalies with complex pathophysiology necessitating specific treatments. Pre- and postoperative morbidity has been relatively high, and the influencing factors are not completely identified...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12000
更新日期:2013-07-01 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::Marfan syndrome is a well-described autosomal dominant syndrome with widely variable clinical manifestations. Cardiovascular complications include mitral valve prolapse with or without associated mitral valve insufficiency, aortic root dilatation, and most importantly the occasional development of aortic aneurysms or ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2006.00040.x
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVE:The National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) was established in 2008 to improve outcomes of hypoplastic left heart syndrome (HLHS) during the interstage period. They evaluated changes in patient variables and practice variation between early and late eras. DESIGN:Data includi...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12442
更新日期:2017-05-01 00:00:00
abstract::The origin of pulmonary artery branches (particularly the left pulmonary artery) from the ascending aorta is a rare condition. We detected prominent hypoplasia of the main and right pulmonary arteries in a 3.5-month-old 3.7 kg female infant who had tetralogy of Fallot with origin of the left pulmonary artery in the as...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00542.x
更新日期:2012-05-01 00:00:00
abstract:OBJECTIVE:Obesity affects adults with congenital heart disease (CHD). The effect of an increased body mass index (BMI) with respect to morbidity and mortality has not been evaluated in adults with complex CHD. Our objective was to evaluate the effects of increased BMI on heart failure and mortality in univentricular pa...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12296
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:The aims of this study were to compare the level of posttraumatic stress disorder between adults with and without congenital heart disease, and to examine the correlates of posttraumatic stress disorder (e.g., sociodemographics). DESIGN:Cross-sectional. SETTING:Two university-affiliated heart hospitals in T...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/chd.12452
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to compare the effects of anesthesia by dexmedetomidine and propofol on the hemodynamics and oxygen balance in children with complex congenital heart disease who were undergoing cardiac surgery. METHODS:Fifty-seven children were randomized to receive either a continuous infusion of ...
journal_title:Congenital heart disease
pub_type: 杂志文章,随机对照试验
doi:10.1111/chd.12228
更新日期:2015-05-01 00:00:00
abstract:BACKGROUND:Pulmonary atresia with intact ventricular septum is a unique congenital malformation of the heart in which patients may undergo single-, two- or 1½- ventricle repair. Size of the tricuspid valve annulus, morphology of the right ventricle and presence of ventriculocoronary connections can all impact the selec...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12510
更新日期:2018-01-01 00:00:00
abstract:INTRODUCTION:Cardiovascular diseases in pediatric pathologies have emerged in the recent years in sub-Saharan Africa (SSA), with congenital heart diseases (CHDs) being the most frequent. Unfortunately, their diagnosis is usually delayed, thereby increasing childhood morbidity and mortality. OBJECTIVES:Describe the cli...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12529
更新日期:2018-01-01 00:00:00
abstract::A 52-year-old male patient, with a medical history of surgically repaired double outlet right ventricle presented with severe aortic stenosis (AS) and hepatitis C with cirrhosis, presented with New York Heart Association Class IV heart failure. During evaluation for a liver transplant, he was deemed a poor surgical ca...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12114
更新日期:2014-09-01 00:00:00