Abstract:
:Hypertrophic cardiomyopathy (HCM) is a rare presenting feature of congenital disorder of glycosylation type Ia (CDG-Ia). We report two female siblings with CDG-Ia and cardiomyopathy. Patient no. 1 died at 12 days of age from cardiac rupture and tamponade, which has not previously been reported in CDG-Ia. The second patient died at 2 months of age from HCM. The severe cardiac manifestations seen in our patients emphasize the importance of early cardiac assessment in all patients with CDG-Ia.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Rudaks LI,Andersen C,Khong TY,Kelly A,Fietz M,Barnett CPdoi
10.1007/s00246-012-0214-ysubject
Has Abstractpub_date
2012-06-01 00:00:00pages
827-30issue
5eissn
0172-0643issn
1432-1971journal_volume
33pub_type
杂志文章abstract::The neonatal Marfan syndrome is an autosomal dominantly inherited disease with an extremely poor prognosis. This report gives a clinical and echocardiographic description of an infant with a mutation in exon 29 of the fibrillin-1 gene (FBN1), a region in which this severe form of Marfan syndrome seems to cluster. The ...
journal_title:Pediatric cardiology
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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
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abstract::Aortic atresia and interrupted aortic arch is a rare cardiac combination. Review of the literature revealed nine cases. We present two patients with this combination and the additional finding of quadricuspid pulmonary valves, one of which was severely stenotic. In the latter patient, an aortopulmonary window was pres...
journal_title:Pediatric cardiology
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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...
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更新日期:2019-04-01 00:00:00
abstract::A two-year-old child who had had palliative surgery as a neonate for an absent right atrioventricular connection and double-inlet ventricle was shown to be developmentally retarded. Trisomy for the short arm of chromosome 8 was demonstrated, resulting from a familial 8:13 translocation, with a high risk of recurrence....
journal_title:Pediatric cardiology
pub_type: 杂志文章
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journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
pub_type: 杂志文章
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journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
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更新日期:2001-05-01 00:00:00
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journal_title:Pediatric cardiology
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更新日期:2009-10-01 00:00:00
abstract::Hammock mitral valve (MV), also known as anomalous mitral arcade, is a rare congenital anomaly. We report a case of a 10-month-old child who presented with congestive heart failure and was found to have severe mitral stenosis (MS) secondary to a hammock MV anomaly. Detailed advanced imaging with cardiac MRI and three-...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-017-1797-0
更新日期:2018-03-01 00:00:00
abstract::Ionizing radiation exposure is a necessary risk entailed during congenital cardiac catheterizations. The congenital catheterization lab at Yale New Haven Children's Hospital employed quality improvement strategies to minimize radiation exposure in this vulnerable population. In two phases, we implemented six intervent...
journal_title:Pediatric cardiology
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更新日期:2019-03-01 00:00:00
abstract::Presented is a retrospective outcome study of a 15-year single institutional experience with a contemporary cohort of patients with hypoplastic left heart syndrome and complex that underwent a "Giessen Hybrid" stage I as initial palliation. Hybrid approach consisting of surgical bilateral pulmonary artery banding and ...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-014-1015-2
更新日期:2015-02-01 00:00:00
abstract::Long-term prostaglandin use is commonly associated with side effects such as cortical proliferation of the bones, hypertrophic pyloric stenosis, and soft tissue swelling of the extremities. We report a neonate with critical coarctation of the aorta, who developed second and third degree atrioventricular blocks associa...
journal_title:Pediatric cardiology
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doi:10.1007/s00246-017-1633-6
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journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/BF02328631
更新日期:1989-01-01 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
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journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-014-0908-4
更新日期:2014-10-01 00:00:00
abstract::Congenital left ventricular diverticulum is a rare cardiac malformation. The incidence of left ventricular diverticulum is reported to be 0.05% of all congenital heart malformations. This case series comprised three infants with the diagnosis of congenital left ventricular diverticulum determined by echocardiography. ...
journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/s00246-012-0153-7
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abstract::Although liver fibrosis causes significant morbidity in the late postoperative period of the Fontan procedure, the diagnostic value of hyaluronic acid (HA), a serum marker of liver fibrosis, has not been established in Fontan patients. The purpose of this study was to determine whether increased serum HA concentration...
journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
pub_type: 杂志文章
doi:10.1007/BF02310333
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journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
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journal_title:Pediatric cardiology
pub_type: 杂志文章
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