Abstract:
OBJECTIVE:Clinical genetic testing is expanding rapidly, but the application of new testing has not been reported in an unselected, comprehensive congenital heart disease (CHD) patient population. This study aims to identify cytogenetic testing practices and diagnostic yield in infants with CHD as an important first step toward understanding clinical utility of dedicated cytogenetic testing. We hypothesized that chromosome microarray analysis (CMA) would identify genetic abnormalities underlying both syndromic and isolated CHD. DESIGN:This is a single institution retrospective study that characterizes cytogenetic testing practices and diagnostic yield for all cytogenetic testing in each infant identified with CHD over a 32-month period. CHD was classified by type, complexity, and presence or absence of extracardiac anomalies. RESULTS:Among the 1087 infants identified with CHD by echocardiogram, 277 infants (25%) had some form of cytogenetic testing, including karyotype, fluorescence in situ hybridization, and/or CMA. Forty-one percent of infants who had cytogenetic testing had more than one test. CMA was performed in 121 patients (11%), and abnormalities (both clinically significant and variants of unknown significance) were identified in 35/121 (29%). Forty-nine percent of CMA abnormalities were in patients with apparently isolated nonsyndromic CHD. CONCLUSIONS:This single institution study identified that only 25% of infants with CHD underwent cytogenetic testing, indicating possible underutilization of testing in this age group. The high multiple testing rate indicates a need for improved guidelines for cost effective testing approaches. The diagnostic yield in this study suggests that CMA is a particularly useful first screening test when a specific syndrome is not clinically identifiable. Larger studies investigating cardiac lesion-specific diagnostic yield in isolated CHD are warranted.
journal_name
Congenit Heart Disjournal_title
Congenital heart diseaseauthors
Connor JA,Hinton RB,Miller EM,Sund KL,Ruschman JG,Ware SMdoi
10.1111/chd.12112subject
Has Abstractpub_date
2014-03-01 00:00:00pages
158-67issue
2eissn
1747-079Xissn
1747-0803journal_volume
9pub_type
杂志文章abstract:OBJECTIVE:Amiodarone is a highly effective antiarrhythmic therapy, however its toxicity profile often limits treatment. This is particularly relevant in adults with congenital heart disease (CHD), who are often young and in whom other antiarrhythmic agents commonly fail or are contraindicated. We sought to determine in...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12657
更新日期:2018-11-01 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: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:Patients with tetralogy of Fallot (TOF) undergoing surgery in adulthood represent a challenge. We report our experience with such patients in or beyond the fourth decade of life. DESIGN:Retrospective cohort. SETTING:Multispeciality tertiary level referral center PATIENTS:Forty-one (age 30-52 years) with TO...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12162
更新日期:2014-09-01 00:00:00
abstract::An 18-year-old patient with a window type of patent ductus arteriosus and acquired rheumatic mitral stenosis is reported for its rarity. The pitfalls in the diagnosis and surgical management of this condition are discussed. ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00558.x
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:The study examined parent stress and health-related quality of life (HRQOL) among families of children with congenital heart disease (CHD) referred for psychological services. METHODS:Parents of 54 children (85% boys) aged 3 to 13 (Mage = 7.48, SD = 2.38) completed measures to assess parenting stress (Paren...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12547
更新日期:2018-01-01 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::So-called heterotaxy affects lateralization of the thoracic and abdominal organs. Congenital malformations may be present in one of several organ systems. Cardiac involvement includes both structural and conduction abnormalities. Data regarding arrhythmias in heterotaxy come from case reports and small case series. We...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12288
更新日期:2016-01-01 00:00:00
abstract::In medical literature, few cases of Rasmussen's aneurysm have been reported until now, and to the best of our knowledge, there has been no description of a case of Rasmussen's aneurysm in childhood. The child described in the case report had a restrictive cardiomyopathy, complicated by pulmonary hypertension, in assoc...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00609.x
更新日期:2013-03-01 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:OBJECTIVE:We hypothesized that a right aortic arch in situs solitus, with or without an associated cardiovascular malformation, is often associated with a vascular ring. METHODS:From those born in Southern Nevada between March 2012 and March 2017, we identified 50 (3.6 per 10,000 live births) with a right aortic arch ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12487
更新日期:2017-09-01 00:00:00
abstract:OBJECTIVES:To determine if patients evaluated using the pediatric chest pain standardized clinical assessment and management plan (SCAMP) in cardiology clinic were later diagnosed with unrecognized cardiac pathology, and to determine if other patients with cardiac pathology not enrolled in the SCAMP would have been ide...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12335
更新日期:2016-09-01 00:00:00
abstract::As physicians and caregivers of children with congenital heart disease, we are aware of the increasing need for procedures requiring anesthesia. While these procedures may be ideal for medical and cardiac surgical management, the risks and benefits must be assessed carefully. There are well known risks of cardiovascul...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12352
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:It has been reported that gender differences in cardiovascular outcomes found in adults also are present in children who undergo surgical repair for congenital heart disease. METHODS:California statewide hospital discharge data 1989-99 were used to study outcomes in children <18 years undergoing cardiac sur...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2006.00013.x
更新日期:2006-05-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to compare neurological development of children with cyanotic or hemodynamically impaired congenital heart disease (CHD) and healthy controls by using "Bayley Scales of Infant and Toddler Development Screening Test, Third Edition" (Bayley-III). PATIENTS:Children with CHD (n = 37...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12269
更新日期:2015-11-01 00:00:00
abstract::Clinically significant patent ductus arteriosus (PDA) has been associated with significant morbidity in extremely low birth weight (ELBW) infants. Current management of ELBW infants with hemodynamically significant PDA includes supportive treatment, pharmacological therapy, and surgical ligation. All of these therapeu...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12712
更新日期:2019-01-01 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::Down syndrome (DS) patients are prone to pulmonary hypertension (PHTN) due to various cardiopulmonary causes. However, the association of DS with pulmonary vein stenosis (PVS) is not adequately described. We illustrate three cases from our center and an additional 13 cases from an extensive review of the literature of...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12088
更新日期:2014-05-01 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::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::Protein-losing enteropathy (PLE) is a rare, but serious complication in single ventricle patients after Fontan palliation, and is associated with a 5-year mortality of 46%. We describe a patient with PLE after Fontan palliation who achieved remission with high-dose spironolactone (an aldosterone antagonist), but had t...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2009.00320.x
更新日期:2010-03-01 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:OBJECTIVE:We aimed to study the efficiency and safety of once-a-week outpatient rehabilitation followed by home program with tele-monitoring in patients with complex cyanotic congenital heart disease. DESIGN:Prospective nonrandomized study. METHOD:Patients who have been diagnosed either Eisenmenger's syndrome or inop...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12659
更新日期:2018-11-01 00:00:00
abstract:UNLABELLED:BACKGROUND; Several studies have demonstrated the utility of B-type natriuretic peptide (BNP) in the months following cardiac transplant. The purpose of this study was to analyze longitudinal BNP data in pediatric cardiac transplant patients and determine the efficacy of BNP in routine follow-up of transplan...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2010.00417.x
更新日期:2010-05-01 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:INTRODUCTION:Pectus excavatum is commonly viewed as a benign condition. Associated alterations in hemodynamics are rare. We present an unusual case of right ventricular inflow obstruction and hemodynamic compromise as a consequence of pectus excavatum encountered during surgical intervention. CASE:a 15-year-old male w...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2008.00231.x
更新日期:2009-05-01 00:00:00
abstract::We report the case of a 30 year-old male with congenitally corrected transposition of the great arteries, atrial, and ventricular septal defects (VSD), and pulmonary stenosis. He previously underwent three palliative surgical procedures before undergoing intracardiac repair at age 20 with a left ventricular to pulmona...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2009.00339.x
更新日期:2010-01-01 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: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: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