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, mutations affecting known genes still account for only a small fraction of congenital heart defects suggesting that many more genes and developmental mechanisms remain to be identified. DESIGN:In this study, we reviewed 1694 described cases of patients with cardiac defects who were determined to have a significant chromosomal imbalance (a deletion or duplication). The cases were collected from publicly available databases (DECIPHER, ISCA, and CHDWiki) and from recent publications. An additional 68 nonredundant cases were included from the University of Michigan. Cases with multiple chromosomal or whole chromosome defects (trisomy 13, 18, 21) were excluded, and cases with overlapping deletions and/or insertions were grouped to identify regions potentially involved in heart development. RESULTS:Seventy-nine chromosomal regions were identified in which 5 or more patients had overlapping imbalances. Regions of overlap were used to determine minimal critical domains most likely to contain genes or regulatory elements involved in heart development. This approach was used to refine the critical regions responsible for cardiac defects associated with chromosomal imbalances involving 1q24.2, 2q31.1, 15q26.3, and 22q11.2. CONCLUSIONS:The pattern of chromosomal imbalances in patients with congenital cardiac defects suggests that many loci may be involved in normal heart development, some with very strong and direct effects and others with less direct effects. Chromosomal duplication/deletion mapping will provide an important roadmap for genome-wide sequencing and genetic mapping strategies to identify novel genes critical for heart development.
journal_name
Congenit Heart Disjournal_title
Congenital heart diseaseauthors
Thorsson T,Russell WW,El-Kashlan N,Soemedi R,Levine J,Geisler SB,Ackley T,Tomita-Mitchell A,Rosenfeld JA,Töpf A,Tayeh M,Goodship J,Innis JW,Keavney B,Russell MWdoi
10.1111/chd.12179subject
Has Abstractpub_date
2015-05-01 00:00:00pages
193-208issue
3eissn
1747-079Xissn
1747-0803journal_volume
10pub_type
杂志文章,meta分析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: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 tra...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12578
更新日期:2018-05-01 00:00:00
abstract::Williams-Beuren syndrome (WBS) is a multisystem genetic disorder comprising of craniofacial, developmental, and cardiac malformations. The most common cardiac defects found are supravalvar aortic stenosis and peripheral pulmonary stenosis. However, WBS should be regarded as a general arteriopathy consisting of stenose...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12087
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: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:OBJECTIVE:Management of the patients with transposition of the great arteries and intact ventricular septum may be challenging beyond the newborn period. Herein, we would like to present our alternative strategy for training the left ventricle in these patients. METHODS:Six patients with transposition of the great art...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12749
更新日期:2019-05-01 00:00:00
abstract:OBJECTIVE:This study aims to assess and compare the early and long-term effects of extracardiac conduit (EC) and lateral tunnel (LT) in patients with a functional single ventricle through meta-analysis. DESIGN:A systematic search was performed in PubMed, Embase, Cochrane Library, CNKI, VIP, CBM, and WanFang databases ...
journal_title:Congenital heart disease
pub_type: 杂志文章,meta分析,评审
doi:10.1111/chd.12503
更新日期:2017-12-01 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::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::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:OBJECTIVE:The objective of this study was to characterize the natural history of metabolic uncoupling (type B hyperlactemia and hyperglycemia) following cardiopulmonary bypass (CPB), and to determine the impact of insulin therapy on time to lactate normalization in patients without low cardiac output. DESIGN:The desig...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12285
更新日期:2015-11-01 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: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: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::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:OBJECTIVE:To assess how obesity or diabetes mellitus impacts outcomes in patients undergoing cardiac surgery in pediatric hospitals. DESIGN:A multi-institutional, matched case-control study of the Pediatric Health Information System database was performed. SETTING:Tertiary children's hospitals in the United States. ...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12325
更新日期:2016-09-01 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:To examine the knowledge and attitudes of anesthesia providers in relation to the care of adult congenital heart disease (ACHD) patients presenting for noncardiac surgery. DESIGN/SETTING:A novel survey was designed and administered to 168 anesthesiologists across a single academic department in a range of pr...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12076
更新日期:2014-01-01 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::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: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::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:Published case reports suggest that congenital portosystemic venous connections (PSVC) and other abdominal venous anomalies may be relatively frequent and potentially important in patients with polysplenia syndrome. Our objective was to investigate the frequency and range of portal and other abdominal systemi...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/j.1747-0803.2010.00478.x
更新日期:2011-01-01 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:OBJECTIVE:The current study aims to identify the rates of lapses in care and loss to follow-up before age one through age five for white and nonwhite congenital heart disease (CHD) survivors. Nonwhite CHD survivors were hypothesized to experience an earlier lapse in care and be lost to follow-up than whites. DESIGN:Pa...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12732
更新日期:2019-03-01 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: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: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: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::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