Abstract：
:Barth syndrome (BTHS) is an X-linked disorder characterised by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. This study describes the UK national clinical experience and outcome of cardiomyopathy in BTHS. The clinical course and echocardiographic changes of all patients with BTHS in the UK were reviewed from 2004 to 2014. In addition, strain analysis using 2D speckle tracking echocardiography was performed to further assess left ventricular function in the most recent follow-up. At last follow-up, 22 of 27 patients were alive with a median age of 12.6 (2.0-23.8) years; seven underwent cardiac transplantation at a median age of 2 (0.33-3.6) years, and five died (18.5%) at a median age of 1.8 (0.02-4.22) years. All deaths were related to cardiomyopathy or its management. Left ventricular diastolic dimension and systolic function measured by fractional shortening tended to normalise and stabilise after the first 3 years of life in the majority of patients. However, patients with BTHS (n = 16) had statistically significant reduction in global longitudinal and circumferential strain compared to controls (n = 18), (p < 0.001), despite apparent normal conventional measures of function. There was also reduced or reversed apical rotation and reduced left ventricular twist. Sustained ventricular arrhythmia was not seen at follow-up. Cardiac phenotype in BTHS is variable; however, longer-term outcome in our cohort suggests good prognosis after the first 5 years of life. Most patients appeared to have recovered near normal cardiac function by conventional echocardiographic measures, but strain analysis showed abnormal myocardial deformation and rotational mechanics.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Kang SL,Forsey J,Dudley D,Steward CG,Tsai-Goodman Bdoi
10.1007/s00246-015-1260-zsubject
Has Abstractpub_date
2016-01-01 00:00:00pages
167-76issue
1eissn
0172-0643issn
1432-1971pii
10.1007/s00246-015-1260-zjournal_volume
37pub_type
杂志文章abstract：:A rare form of endocardial cushion defect is an atrioventricular (AV) canal-type ventricular septal defect with cleft mitral valve in the absence of a primum atrial septal defect. In two infants with Down's syndrome, preoperative delineation of this entity was accomplished. M-mode echocardiographic features included p...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02426975
更新日期：1982-01-01 00:00:00
abstract：:With the advent of cardiac magnetic resonance imaging and high-resolution echocardiography, cardiac catheterization is unnecessary in clinical protocols in the "routine" single ventricle patient. Catheterization adds little to clinical care in these cases, and there are significant risks and costs associated with it. ...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/s00246-004-0960-6
更新日期：2005-03-01 00:00:00
abstract：:We present a neonatal case with intractable atrial flutter that did not respond to digitalization and electrical cardioversion. Intravenous flecainide administration completely resolved the atrial flutter. Proarrhythmic effects were not induced by flecainide administration. Although the efficacy of flecainide for atri...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-003-0226-8
更新日期：2004-03-01 00:00:00
abstract：:We studied the safety and efficacy of closing patent ductus arteriosus by Nit-Occlud coils via retrograde approach. This is a retrospective study of 46 attempts to close ducts by this method in two hospitals in Egypt and Iran. Ductus arteriosus was crossed by left or right Judkins or endhole catheters. The coil was de...
journal_title：Pediatric cardiology
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1007/s00246-017-1589-6
更新日期：2017-04-01 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：:We analyzed early and late results of surgical treatment of 100 consecutive children with Down's syndrome (DS) and congenital heart defect (CHD) who were operated on between 1990 and 1997. Fifty had common atrioventricular canal (CAVC), 24 ventricular septal defect, 8 the ostium primum atrial septal defect, 8 tetralog...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002469900483
更新日期：1999-09-01 00:00:00
abstract：:Contrary to acquired arteriovenous fistulas, the congenital malformations are very rare. Here we report a case of congenital arteriovenous fistula forming a communication between the right subclavian artery to subclavian vein. To our knowledge, there is no similar case in which an infant has been successfully operated...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002460010056
更新日期：2000-05-01 00:00:00
abstract：:To reveal the association between DNMT1 polymorphisms and congenital heart disease (CHD) in child patients, a total of 224 CHD child patients as well as 199 healthy individuals were enrolled in the present study. The DNA was extracted from whole blood, and four SNPs including rs16999593, rs2228612, rs2288349 and rs104...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-015-1093-9
更新日期：2015-06-01 00:00:00
abstract：:Midodrine hydrochloride is a potent peripherally-acting alpha1 agonist that is well absorbed and rapidly metabolized to its active metabolite. It has been used for the treatment of refractory syncope but has the important side effect of supine hypertension. A 10-year-old boy with severe symptomatic orthostatic hypoten...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-006-0169-y
更新日期：2007-07-01 00:00:00
abstract：:The genetic basis of congenital heart disease remains unknown in most of the cases. Recently, a novel mouse model shed new light on the role of CCN1/CYR61, a matricellular regulatory factor, in cardiac morphogenesis. In a candidate gene approach, we analyzed a cohort of 143 patients with atrial septal defects (ASD) by...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-014-1001-8
更新日期：2015-02-01 00:00:00
abstract：:The HOXA1 gene plays a fundamental role in embryonic morphogenesis. Recent studies in humans and mice have indicated that HOXA1 plays a previously unrecognized role in cardiovascular system development. Congenital heart disease (CHD), particularly ventricular septal defect (VSD), might be a clinically isolated manifes...
journal_title：Pediatric cardiology
pub_type： 杂志文章,多中心研究
doi：10.1007/s00246-012-0418-1
更新日期：2013-02-01 00:00:00
abstract：:A premature child with congenital complete heart block had an epicardial single-chamber pacemaker implanted at 2 days of age. At 21 months of age, while sitting or standing, the patient's right anterior thigh muscles contracted at her pulse rate. Surgical exploration revealed a free-floating pacemaker in her peritoneu...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002469900430
更新日期：1999-03-01 00:00:00
abstract：:Sinus node disease is a problem encountered in patients after the Mustard surgery, requiring a pacemaker implantation. The knowledge of the complexity anatomy is crucial because of the possible challenges associated with this procedure. We report a case of a 24-year-old woman presented with symptomatic bradycardia, in...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-015-1155-z
更新日期：2015-08-01 00:00:00
abstract：:The spectrum of cardiac anomalies in trisomy 18 typically includes septal defects and polyvalvular disease and only rarely complex malformations. We report the first case of trisomy 18 with truncus arteriosus type II. ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF00796330
更新日期：1994-05-01 00:00:00
abstract：:Children with congenital heart defects often demonstrate a reduced capacity for exercise, even after surgical intervention. Forty subjects, with various heart defects, completed a 5-year study to evaluate the impact of a postoperative training program on their physical exercise capacity. All of the patients were signi...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02238841
更新日期：1990-07-01 00:00:00
abstract：:When the common pulmonary vein fails to develop, the embryonic connections of the pulmonary veins to one or more of the systemic veins almost always persist. Anomalous pulmonary venous connections to the inferior vena cava (IVC) are typically characterized by hypoplasia of the involved pulmonary veins and pulmonary ar...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-005-0920-9
更新日期：2005-11-01 00:00:00
abstract：:Recurrent congenital left atrial aneurysm presenting in a newborn as cardiac tamponade is described. Such a presentation has not been previously reported. ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002469900269
更新日期：1998-03-01 00:00:00
abstract：:With improvements in technology and surgical technique, pediatric cardiologists are challenging surgeons to close symptomatic ventricular septal defects (VSDs) in ever smaller patients. Although delaying surgery may facilitate operative repair, early intervention decreases the period of time these patients require the...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-007-9016-z
更新日期：2008-01-01 00:00:00
abstract：:We measured the coronary flow reserve in a 13-year-old girl with the rare anomaly of an absent left circumflex coronary artery. Although the coronary flow volume of the right coronary artery was at the same level as that of the left anterior descending coronary artery, the coronary flow reserve of the patient's right ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002460010188
更新日期：2001-03-01 00:00:00
abstract：:Novel COstatus system (Transonic Systems, Inc., NY), based on ultrasound dilution (UD), works off in situ arterial and central venous catheters in pediatric patients to measure cardiac output (CO). The purpose of the present study was to validate CO measurement by UD (COUD) with pulmonary artery (PA) thermodilution (C...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-011-9915-x
更新日期：2011-06-01 00:00:00
abstract：:Over the past decade, revolutionary advances in ultrasound imaging technology have allowed the study of the evolution of congenital heart disease during fetal life. The frustration arising from watching the prenatal progression of severe semilunar valve obstructions and therapy-refractory fetal arrhythmias has prompte...
journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/s00246-001-0197-6
更新日期：2002-05-01 00:00:00
abstract：:We describe a patient diagnosed with a small atrial septal defect (3-4 mm) that had grown to 24 mm in diameter over a six-year period. Timing of transcatheter intervention may be affected by growth of the atrial septal defect and this reports the first case of an atrial septal defect outgrowing the possibility of tran...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-001-0068-1
更新日期：2002-09-01 00:00:00
abstract：:Beta-blocker therapy is one of the principal therapies for congenital long-QT syndrome (LQTS). However, breakthrough cardiac events occur while being treated with beta-blockers. We sought to determine the frequency of and clinical correlates underlying beta-blocker therapy failures in genotyped, symptomatic LQTS proba...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-003-0567-3
更新日期：2004-09-01 00:00:00
abstract：:Coronary artery anatomy represents a challenging and, often, determining predictor of outcome in an arterial switch operation (ASO). Impact of specific coronary artery variants, such as single, intramural and inverted, on time-related events following ASO, is, yet, to be determined. We sought to compare early and late...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-016-1543-z
更新日期：2017-03-01 00:00:00
abstract：:We describe two cases of left-side pulmonary vein obstruction observed after the arterial switch operation (Jatene) for D-transposition of the great arteries. This appears to be related to left-sided pulmonary vein obstruction occurring coincidently with D-transposition of the great arteries, rather than a consequence...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s002469900180
更新日期：1997-07-01 00:00:00
abstract：:This report aims to summarize and evaluate the efficacy and experience of reintervention for children with postoperative pulmonary venous restenosis. Clinical data from 61 patients with postoperative pulmonary venous restenosis who underwent reintervention at Shanghai Children's Medical Center (SCMC) from September 20...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-019-02098-z
更新日期：2019-06-01 00:00:00
abstract：:This study aimed to clarify the characteristics of pulmonary arterial resistance (Rp)-compliance (Cp) coupling in individuals with Down syndrome (DS), who have increased risks of pulmonary arterial hypertension (PAH). We performed cardiac catheterization before and after corrective surgery in 85 DS infants and 85 cont...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-019-02080-9
更新日期：2019-04-01 00:00:00
abstract：:Ejection fraction (EF) and fractional shortening (FS) are standard methods of quantifying left ventricular (LV) systolic function. 2D global longitudinal strain (2D GLS) is a well-established, but underutilized method for LV function quantification. The aim of this study was to assess precision of GLS compared to EF &...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-019-02243-8
更新日期：2020-01-01 00:00:00
abstract：:We describe the first report of an infant who was born with hypoplastic left heart syndrome and significant pulmonary stenosis. He was successfully palliated with multiple cardiac catheterization interventions while waiting for cardiac transplantation. This unusual constellation of heart defects is an entity that is r...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-004-0856-5
更新日期：2005-09-01 00:00:00
abstract：:Our purpose was to evaluate the impact of suspicion or confirmation of heart disease on the physical and psychosocial health of children. We utilized the Child Health Questionnaire (CHQ PF-50). Children ages 5 to 18 years attending a general cardiology clinic were eligible. Those with primary noncardiac diagnoses unre...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-003-0348-z
更新日期：2004-01-01 00:00:00
