Abstract:
INTRODUCTION:Perturbations in the CACNA1C-encoded L-type calcium channel α-subunit have been linked recently to heritable arrhythmia syndromes, including Timothy syndrome, Brugada syndrome, early repolarization syndrome, and long QT syndrome. These heritable arrhythmia syndromes may serve as a pathogenic basis for autopsy-negative sudden unexplained death in the young (SUDY). However, the contribution of CACNA1C mutations to SUDY is unknown. OBJECTIVE:We set out to determine the spectrum, prevalence, and pathophysiology of rare CACNA1C variants in SUDY. METHODS:Mutational analysis of CACNA1C was conducted in 82 SUDY cases using polymerase chain reaction, denaturing high-performance liquid chromatography, and direct sequencing. Identified variants were engineered using site-directed mutagenesis, and heterologously expressed in TSA-201 or HEK293 cells. RESULTS:Two SUDY cases (2.4%) harbored functional variants in CACNA1C. The E850del and N2091S variants involve highly conserved residues and localize to the II-III linker and C-terminus, respectively. Although observed in publically available exome databases, both variants confer abnormal CaV 1.2 electrophysiological characteristics. Examination of the electrophysiological properties revealed the E850del mutation in CACNA1C led to a 95% loss-of-function in ICa , and the N2091S variant led to a 105% gain-of-function in ICa. Additionally, N2091S led to minor kinetic alterations including a -3.4 mV shift in V1/2 of activation. CONCLUSION:This study provides molecular and functional evidence that rare CACNA1C genetic variants may contribute to the underlying pathogenic basis for some cases of SUDY in either a gain or loss-of-function mechanism.
journal_name
Congenit Heart Disjournal_title
Congenital heart diseaseauthors
Sutphin BS,Boczek NJ,Barajas-Martínez H,Hu D,Ye D,Tester DJ,Antzelevitch C,Ackerman MJdoi
10.1111/chd.12371subject
Has Abstractpub_date
2016-12-01 00:00:00pages
683-692issue
6eissn
1747-079Xissn
1747-0803journal_volume
11pub_type
杂志文章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: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
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::Isolated left ventricular (LV) apical hypoplasia is a recently described congenital abnormality characterized by: (1) a truncated and spherical LV configuration with rightward bulging of the interventricular septum, (2) deficiency of the myocardium within the LV apex with adipose tissue infiltrating the apex, (3) orig...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00489.x
更新日期:2011-11-01 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:The electrocardiogram (ECG) is used to detect left ventricular hypertrophy (LVH) in children and young adults, and it is considered an important screening tool for the most common causes of sudden cardiac arrest in the United States. However, the reliability and accuracy of the ECG in the detection of LVH are...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12249
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVE:The need for conduit replacement in the growing child remains a major problem after right ventricular outflow tract reconstruction. We compared two diverse surgical centers with considerable practice variation in Europe and the United States to identify modifiable risk factors that can increase conduit longev...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2008.00190.x
更新日期:2008-05-01 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::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 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::We report the use of the Amplatzer Duct Occluder for transcatheter closure of a rare subclavian artery to innominate vein fistula in a neonate. ...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2006.00008.x
更新日期:2006-01-01 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:OBJECTIVES:To investigate functional health status among adults previously operated for aortic coarctation (CoA) compared with healthy subjects; to assess the influence of medication and exercise capacity on patients' functional health. DESIGN:Questionnaire-based investigation among 119 patients who underwent surgical...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/j.1747-0803.2011.00595.x
更新日期:2011-11-01 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:INTRODUCTION:Ketamine is a drug often used for procedural sedation or as adjunct agent for general sedation in children with congenital heart disease. In the clinical realm, there is often confusion regarding the effects of ketamine on hemodynamics, particularly pulmonary vascular resistance and systemic vascular resis...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12662
更新日期:2018-09-01 00:00:00
abstract:BACKGROUND:Patients with a Fontan circulation are at risk of renal dysfunction. We analyzed cross-sectional data in pediatric and adult Fontan patients in order to assess the accuracy of commonly used serum creatinine-based methods in estimating glomerular filtration rate (GFR). METHODS:A total of 124 Fontan patients ...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12746
更新日期:2019-05-01 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::Appropriate interpretation of a screening test's validity poses a challenge to the clinician. The purpose of this review is to revisit the terms sensitivity, specificity, likelihood ratio, and pre- and posttest probability and their application to the clinical setting. For illustration, we use a recently published art...
journal_title:Congenital heart disease
pub_type: 杂志文章,评审
doi:10.1111/chd.12083
更新日期:2013-09-01 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: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:Arterial switch operation has become the treatment of choice for neonates with transposition of the great arteries. The most important step of the procedure is transferring the coronary arteries to the neoaorta successfully. This study shows the impact of coronary anatomy on early mortality and morbidity afte...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12295
更新日期:2016-03-01 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: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::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:OBJECTIVE:Enteral feeding is associated with decreased infection rates, decreased mechanical ventilation, decreased hospital length of stay, and improved wound healing. Enteral feeding difficulties are common in congenital heart disease. Our objective was to develop experience-based newborn feeding guidelines for the i...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12435
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND:Mean platelet volume (MPV), platecrit, and platelet distribution width (PDW) are markers of platelet activation. Previous studies have found that platelet activation occurs in patients with pulmonary arterial hypertension. Platelet indices including MPV, PDW, and platecrit have not been studied in children w...
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12616
更新日期:2018-07-01 00:00:00
abstract:OBJECTIVE:The aim is to present current clinical practice of thoracic aorta screening in a tertiary referral center. We identified how often imaging techniques were used for screening and established the value of transthoracic echocardiography (TTE) in comparison with computed tomography (CT) to detect aortic dilation....
journal_title:Congenital heart disease
pub_type: 杂志文章
doi:10.1111/chd.12663
更新日期:2018-11-01 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 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:BACKGROUND AND AIMS:Patients who underwent a successful repair of the aortic coarctation show chronic hyperdynamic state and normal left ventricular (LV) geometry; however, there are few data regarding the LV systolic function in the long term. Accordingly, we assessed LV systolic mechanics and factors associated with ...
journal_title:Congenital heart disease
pub_type: 杂志文章,多中心研究
doi:10.1111/chd.12310
更新日期:2016-05-01 00:00:00