Abstract：
:Pediatric primary cardiomyopathy is rare but serious, having high mortality; hypertrophic and dilated types are the most common. Its etiology has been mainly considered idiopathic; however, next generation sequencing techniques have revealed nearly half of idiopathic pediatric cases arose from specific genetic mutations. Therefore, our study aimed to identify the genetic causes of primary idiopathic cardiomyopathy. Newborns to 15-year old patients with this condition were recruited between March 2016 and May 2017 at Thammasat University Hospital. Complete patient history and physical examination data were collected by a geneticist with cardiac examinations and echocardiograms by pediatric cardiologists. Whole exome sequencing was performed for all. Of the 12 patients enrolled, 5 cases were dilated type and 7 hypertrophic. Two with dilated type were excluded during follow-up as cause was determined (hypocalcemia and pacemaker induced). A list of 118 genes for cardiomyopathy was analyzed in the remaining 10 cases. Pathogenic and likely pathogenic mutations were identified in 5 patients: HRAS, PTPN11, SOS1, FLNC and TXNRD2; half our patients were not actually idiopathic. Despite its high cost, genetic testing is useful for determining familial risk as well as predicting patient cardiomyopathy progress.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Rojnueangnit K,Sirichongkolthong B,Wongwandee R,Khetkham T,Noojarern S,Khongkraparn A,Wattanasirichaigoon Ddoi
10.1007/s00246-019-02240-xsubject
Has Abstractpub_date
2020-01-01 00:00:00pages
165-174issue
1eissn
0172-0643issn
1432-1971pii
10.1007/s00246-019-02240-xjournal_volume
41pub_type
杂志文章abstract：:This report describes an unusual case with tortuosity of the great vessels in a neonate who presented at birth with cyanosis. The diagnosis was made with magnetic resonance imaging (MRI), then confirmed by genetic analysis. ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-009-9486-2
更新日期：2009-11-01 00:00:00
abstract：:A five-day-old infant with transposition of the great arteries, ventricular septal defect, and an interrupted right aortic arch underwent successful balloon septostomy, pulmonary artery banding, and aortic arch repair. The infant also had abnormal facies with severe refractory hypocalcemia and depressed T-lymphocyte n...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02427049
更新日期：1984-07-01 00:00:00
abstract：:The primary objective was to create a clinically relevant model of right ventricular hypertension and to study right ventricular myocardial pathophysiology in growing organism. The secondary objective was to analyse the effect of oral enoximone (phosphodiesterase inhibitor) therapy on right ventricular haemodynamic pa...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-016-1463-y
更新日期：2016-12-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-015-1327-x
更新日期：2016-04-01 00:00:00
abstract：:The slip ring and nutate/rotate configuration of the new, fourth-generation, computed tomography (CT) (TCT-900S, Toshiba Medical Company) makes it possible to scan consecutively 25 slices every 75 s. This scanner also rapidly provides hemodynamic and multiplanar reconstruction images. Studies were performed on 13 chil...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02309917
更新日期：1989-04-01 00:00:00
abstract：:Cardiopulmonary bypass (CPB) reduces coagulation factor levels through hemodilution and consumption. Differences in CPB-induced alterations of factor XIII (FXIII) levels in children with cyanotic and acyanotic congenital heart defects (CHDs) are not well characterized. FXIII activity (determined by Berichrom assay), p...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-014-0903-9
更新日期：2014-10-01 00:00:00
abstract：:Transcatheter pulmonary valve implantation in the setting of right ventricle-to-pulmonary artery conduit dysfunction is a relatively new procedure with encouraging early and midterm results. Malpositioning of the valve during implantation is a potentially serious complication. This report describes a case in which val...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0224-9
更新日期：2012-06-01 00:00:00
abstract：BACKGROUND:The purpose of this study was to investigate the associations between clinical factors and cardiac function as measured by pressure-volume loops (PVLs) in a pediatric heart transplant cohort. METHODS:Patients (age < 20 years) who underwent heart transplantation presenting for a clinically indicated catheter...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-017-1758-7
更新日期：2018-02-01 00:00:00
abstract：:Ultrasound Doppler was used to establish time of ductal closure, normal values for blood flow velocity in the pulmonary artery (PA), and time interval between pulmonary valve closure (Pc) and tricuspid valve opening (To) in 37 healthy neonates. Ductal closure had occurred in 23% of the children within 12 h after deliv...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：:Congenital diverticulum of the left ventricle, a rare malformation, is usually associated with midline thoracoabdominal defect. We describe a case with congenital left ventricular diverticulum presenting as an isolated lesion. The lesion was suspected on two-dimensional echocardiography and was confirmed by cardiac ca...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02524804
更新日期：1996-07-01 00:00:00
abstract：:A methodology that would allow for comparison of charges across institutions has not been developed for catheterization in congenital heart disease. A single institution catheterization database with prospectively collected case characteristics was linked to hospital charges related and limited to an episode of care i...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-014-0994-3
更新日期：2015-02-01 00:00:00
abstract：:The authors hypothesized that prospective, systematic Internet searches could identify occurrences of sudden cardiac death (SCD) in athletes and would be useful for establishing a system of active surveillance. Weekly advanced Google searches of the Internet were conducted for cases of SCD in young athletes during a 1...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-013-0717-1
更新日期：2013-01-01 00:00:00
abstract：:We sought to document morbidities and growth for patients with hypoplastic left heart syndrome (HLHS) to inform the initial surgical decision and understand healthcare needs. Data were obtained on 137 patients with HLHS, born between 1989 and 1994, who survived staged surgery ( n = 62) or transplantation ( n = 75) and...
journal_title：Pediatric cardiology
pub_type： 杂志文章,多中心研究
doi：10.1007/s00246-003-0471-x
更新日期：2004-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-020-02449-1
更新日期：2020-11-21 00:00:00
abstract：:To determine the influence of heart rate (HR) on systolic time intervals (STI) in neonates, serial measurements of right ventricular (RVSTI) and left ventricular systolic time intervals (LVSTI) were made on 30 healthy term newborn infants at age 4-8 h, 24-30 h, eight days, and four weeks. STI was related to HR and age...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02336549
更新日期：1985-01-01 00:00:00
abstract：:Embryonic development is a tightly regulated process, and many families of genes functions to provide a regulatory genetic network to achieve such a program. The homeobox genes are an extensive family that encodes transcription factors with a characteristic 60-amino acid homeodomain. Mutations in these genes or in the...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0179-x
更新日期：2012-08-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-016-1362-2
更新日期：2016-06-01 00:00:00
abstract：:The case of a transient third degree atrioventricular block in a 4-year-old patient with familial dysautonomia is reported. A review of the literature follows with analysis of the significance of arrhythmias in the natural history of the patient with familial dysautonomia. ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF00793955
更新日期：1992-07-01 00:00:00
abstract：:The patient safety movement and human factors studies are becoming an increasingly important part of everyday clinical practice. Pediatric cardiac surgery is a high-risk field that is very much dependent on safe practices and continuous research into improvement of outcomes. This article reviews the main research fram...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/s00246-006-1448-3
更新日期：2007-03-01 00:00:00
abstract：:The most common modes of medical education for congenital heart disease (CHD) rely heavily on 2-dimensional imaging. Three-dimensional (3D) printing technology allows for the creation of physical cardiac models that can be used for teaching trainees. 3D printed cardiac models were created for the following lesions: pu...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-019-02146-8
更新日期：2019-08-01 00:00:00
abstract：:We sought to describe the use and outcomes of small, medium and large premounted stents in patients with congenital heart disease, including incidence of and risk factors for re-intervention and development of in-stent stenosis. Premounted stents offer several advantages over traditional manually crimped bare-metal st...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-016-1466-8
更新日期：2016-12-01 00:00:00
abstract：:Ischemic myocardial damage was identified as a complicating feature in the clinical course of 12 newborn infants who died in congestive failure with cerebral arteriovenous malformation. Electrocardiograms of 11 patients showed signs of chamber hypertrophy and T wave and ST segment features of varying degree compatible...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02281003
更新日期：1983-01-01 00:00:00
abstract：:The purpose of this study was to describe the long-term outcome of infants with hypoplastic left heart syndrome (HLHS) who underwent placement of internal pulmonary artery bands as part of a transcatheter palliation procedure followed by primary heart transplantation. Transcatheter palliation included stenting of the ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-009-9424-3
更新日期：2009-05-01 00:00:00
abstract：:The epidemiologic data for pediatric hypertrophic cardiomyopathy (HCM) needs to be periodically updated as diagnostic techniques and management strategies improve. Herein, the incidence, prevalence, and mortality rates of pediatric HCM in a population-based treatment system are described. Patients aged ≤ 17 years and ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-020-02472-2
更新日期：2020-10-03 00:00:00
abstract：:Marfan syndrome (MS) is a connective tissue disease involving the cardiovascular, ocular, and the musculoskeletal systems. MS has variable phenotypic expression and is most often diagnosed in adult life. Infantile-onset MS is rare and is associated with severe cardiovascular manifestations; there is an extremely high ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-006-0066-4
更新日期：2007-09-01 00:00:00
abstract：:In this report, we describe a case of coarctation of the aorta, congenital aortic stenosis with bicuspid valve, and supravalvar aortic stenosis with left coronary artery ostial stenosis. The child underwent staged treatment using a hybrid approach employing both surgical and interventional cardiology methods. A single...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002460010164
更新日期：2001-01-01 00:00:00
abstract：:We report our experience with asymptomatic valvar aortic stenosis diagnosed during infancy. During the period between November 1, 1986 and October 31, 1992 a total of 13 infants were diagnosed with asymptomatic aortic stenosis, 5 of whom showed rapid progression over the first 2 years of life. Two of these asymptomati...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002469900105
更新日期：1997-01-01 00:00:00
abstract：:Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder characterized by large-scale deletions of mitochondrial DNA. Neuromuscular and cardiac conduction systems are most commonly involved in these patients. Here, we discuss a 10-year-old patient with diabetes mellitus who presented in complete heart block leadin...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-007-9040-z
更新日期：2008-05-01 00:00:00
abstract：:The cardiac NK-2 transcription factors are the vertebrate relatives of the Drosophila tinman gene. Without the Drosophila tinman gene, fruit flies fail to form their heart ("dorsal vessel"), and mutations or altered expression of cardiac NK-2 genes may lead to abnormal heart formation in vertebrates. Although the card...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/s00246-009-9605-0
更新日期：2010-04-01 00:00:00
abstract：:Ectopic atrial tachycardia (EAT) is often resistant to medical therapy, with radiofrequency ablation (RFA) being a preferred treatment option. Three-dimensional (3-D) electroanatomic mapping was introduced as a tool for improved substrate localization, although there are no published data with this technology in pedia...
journal_title：Pediatric cardiology
pub_type： 杂志文章,多中心研究
doi：10.1007/s00246-007-9137-4
更新日期：2008-03-01 00:00:00
