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:BACKGROUND:Surgical management of tetralogy of Fallot (TOF) is increasingly moving toward valve-sparing approaches rather than transannular patch (TAP). We evaluate whether fetal pulmonary valve (PV) size is predictive of postnatal course and surgical approach in TOF. METHODS:In this retrospective study, fetal and pos...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12120
更新日期:2014-05-01 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::Pulmonary hypertension (PH) is a complex condition with a broad range of etiologies that result in a common outcome--elevated pulmonary arterial pressure. For the pediatric cardiologist, this entity provides a manifest demonstration of the interrelationship of cardiac and pulmonary physiology. A thoughtful approach mu...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12012
更新日期:2012-11-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to identify factors that influence postoperative intensive care unit length of stay (ICULOS) in infants less than 6 months of age undergoing congenital heart surgery. METHODS:Records from a single institution, from January 2000 to December 2000, were reviewed. For analysis, surg...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2006.00027.x
更新日期:2006-07-01 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::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:OBJECTIVES:The primary objective of this study was to demonstrate that pulmonary artery (PA) debanding via cardiac catheterization using balloon angioplasty is feasible and safe in swine. The secondary objectives were to determine the acute and long-term effects of this therapy. DESIGN:This is a chronic survival exper...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12449
更新日期:2017-05-01 00:00:00
abstract::Iron deficiency state in patients with cyanotic congenital heart disease can mimic as well as aggravate hyperviscosity symptoms. Correction of iron deficiency in these cases is expected to improve symptoms. We report an unexpected occurrence of refractory cyanotic spell in a child with tetralogy of Fallot due to throm...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00608.x
更新日期:2012-07-01 00:00:00
abstract::This case report demonstrated an apical muscular ventricular septal defect (VSD) that was a large defect but behaved like a small defect because of the restrictive flow across the anomalous muscle bundles in the right ventricular (RV) apex. The anomalous muscle bundles separated the RV sinus into two parts: the RV ape...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2007.00075.x
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Deficits in swallowing physiology are a leading morbidity for infants with functional single ventricles and systemic outflow tract obstruction following stage 1 palliation. Despite the high prevalence of this condition, the underlying deficits that cause this post-operative impairment remain poorly understoo...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12456
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:Patients undergoing surgical repair of aortic coarctation have a 50% risk of pathologic left ventricular remodeling (increased left ventricular mass or relative wall thickness). Endothelin 1, ST2, galectin 3, norepinephrine and B-natriuretic peptide are biomarkers that have been associated with pathologic LV ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12744
更新日期:2019-05-01 00:00:00
abstract::A male infant presented at birth with severe coarctation of the aorta and marginal left ventricular and mitral valve dimensions associated with a large secundum atrial septal defect. Following successful arch repair, the left ventricle remained small with preferential left-to-right atrial shunting and a dilated right ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2007.00140.x
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVE:It was examined whether women and men (17-45 years) with operated congenital heart disease differ with respect to chances of employment. Patients were compared with the general population. DESIGN:Patients (n = 314) were classified by type of surgery (curative, reparative, palliative) as indicator of initial ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2008.00239.x
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:To provide data on the value of fused cardiac hybrid imaging with coronary computed tomography angiography (CCTA) and positron emission tomography myocardial perfusion imaging (PET-MPI) in patients with complex coronary artery anomalies (CCAA). DESIGN/SETTING:This is a retrospective, single-center study. PA...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12402
更新日期:2017-01-01 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:OBJECTIVE:Determine the accuracy of echocardiography to diagnose coronary anatomy in transposition of the great arteries and to evaluate the effect of accuracy on surgical outcomes and changes in accuracy over time. DESIGN:Retrospective chart review of neonates admitted February 1999 to March 2013 with transposition. ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12338
更新日期:2016-12-01 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::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: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: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::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:Transient elastography (TE) offers a noninvasive correlate with the degree of hepatic fibrosis. However, factors other than fibrosis affect liver stiffness. We sought to determine whether hepatic congestion related to hemodynamics in Fontan circulation influences liver stiffness measurement (LSM) assessed by...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12159
更新日期:2014-09-01 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:OBJECTIVE:Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current st...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12461
更新日期:2017-07-01 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::Crisscross heart is a rare congenital cardiac anomaly in which systemic and pulmonary venous streams cross without mixing at atrioventricular level. We report a case of crisscross heart with tricuspid atresia, double outlet right ventricle, and pulmonary stenosis, which was diagnosed prenatally. ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2012.00716.x
更新日期:2013-09-01 00:00:00
abstract::Scimitar syndrome is characterized by anomalous pulmonary venous drainage of a part or the whole of the right lung into the inferior vena cava (IVC). It is extremely uncommon in scimitar syndrome for the pulmonary veins to drain anomalously to a site other than the IVC. The following case report describes an otherwise...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00513.x
更新日期:2012-01-01 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: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::While right ventricle to pulmonary artery homograft is the surgical procedure of choice for relieving right ventricle outflow tract obstruction; it is limited by the need for multiple surgical replacements owing to progressive conduit obstruction, valve dysfunction, or patient growth. Since January 2010, percutaneous ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12013
更新日期:2013-11-01 00:00:00