Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods: The medical records of 5 Korean... |
Purpose: Transcatheter device closure of patent ductus arteriosus (PDA) is challenging in early infancy. We evaluated PDA closure in infants less than 6 months old. Methods: We performed a retrospective review of infants less than 6 months of age who underwent attempted transcatheter device closure in our institution since 2004. To compare clinical outcomes between age groups, infants aged 6–12 months... |
The presence of a single coronary artery is a rare congenital anomaly; such patients often present with severe myocardial ischemia. We experienced the case of a 13-year-old girl with the right coronary artery originating from the left circumflex artery. She visited our Emergency Department owing to severe chest pain; her cardiac enzyme levels were elevated, but her initial electrocardiogram (ECG)... |
Brugada syndrome is a rare channelopathy associated with the |
The purpose of this study was to share our experience of transcatheter closure of small patent ductus arteriosus (PDA) by using an Amplatzer vascular plug (AVP). We reviewed the medical records of 20 patients who underwent transcatheter closure at Samsung Medical Center and Sejong General Hospital from January 2008 to August 2012. The size and shape of the PDAs were evaluated... |
Apical muscular ventricular septal defects (MVSDs), especially in small infants, can be difficult to manage using surgical and percutaneous closure. An intraoperative perventricular procedure is a good option for closing apical MVSDs in small children with or without associated cardiac anomalies. We evaluated the results of hybrid perventricular closure of apical MVSDs performed using an Amplatzer duct occluder (ADO). We retrospectively... |
We report a case of a 13-year-old girl with acute lymphoblastic lymphoma-leukemia, who presented with a cardiac metastasis in the right ventricle, resulting in a pulmonary embolism. At the time of her leukemia diagnosis, a cardiac mass was incidentally found. The differential diagnosis for this unusual cardiac mass included cardiac tumor, metastasis, vegetation, and thrombus. Empirical treatment was initiated, including... |
Patients with congenital heart diseases (CHD) are confronted with early- and late-onset complications, such as conduction disorders, arrhythmias, myocardial dysfunction, altered coronary flow, and ischemia, throughout their lifetime despite successful hemodynamic and/or anatomical correction. Rhythm disturbance is a well-known and increasingly frequent cause of morbidity and mortality in patients with CHD. Predisposing factors to rhythm disturbances include underlying cardiac defects,... |
Purpose : Despite recent advances in pulmonary hypertension management and surgery, appropriate guidelines remain to be developed for operability in congenital heart disease with pulmonary artery hypertension (PAH). Our aim was to evaluate clinical outcomes of patients with severe PAH who underwent surgical closure of left-to-right shunt lesions (LRSL) on the basis of pulmonary reactivity. Methods : We retrospectively reviewed 21... |
Purpose : This study investigated the clinical course and prognostic factor of very low birth weight infants (VLBWI) with hemodynamically significant congenital heart defects (CHDs). Methods : Medical records of 1,098 VLBWI with birth weight <1,500 g who had been admitted to the neonatal intensive care unit of Samsung Medical Center from October 1994 to December 2007 were reviewed retrospectively. The... |
Purpose : The purpose of this study was to investigate the relationship between depression and resilience in adolescents with congenital heart disease(CHD) and to identify the variables associated with depression. Methods : The Resilience Scale(cronbach’s α=0.92), Children's Depression Inventory(cronbach’s α= 0.72) and Maternal Behavior Research Instrument(cronbach’s α=0.88) were applied and analyzed to assess depression and resilience among 231 adolescents after... |
Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain α-ketoacid dehydrogenase complex. The disease is often suspected because of the peculiar odor of maple syrup in urine. Maple syrup urine disease is usually confirmed by amino acid analysis and urine organic acid analysis showing marked elevations of leucine, isoleucine, valine, and respective ketoacids in... |
Purpose : The prevalence of congenital heart anomalies is known to be higher in patients with clefts of the lip and/or palate(CL/P). The purpose of this study was to determine the prevalence and type of congenital heart anomalies in patients with CL/P. Methods : We investigated congenital heart anomalies in 756 patients presented with CL/P from January 1986 to December... |
Purpose : This study was aimed to evaluate the feasibility of echo-Doppler study on fetal lamb, analyse the distribution of blood flow before and after fetal cardiac bypass, and consequently assess the effect of fetal cardiac bypass on the fetal cardiovascular system. Methods : Ten fetal lambs at 120 to 150 days of gestation which underwent cardiac bypass for 30 minutes... |
Purpose : This study was aimed to assess the clinical manifestations and courses of autosomal recessive polycystic kidney disease(ARPKD). Methods : The medical records of 10 children diagnosed as infantile or juvenile ARPKD at Seoul National University Children's Hospital between January, 1984 and December, 1996, were reviewed, retrospectively. Results : The average age at diagnosis was 3 8/12 years(4months-7 3/12 years)... |
Purpose : This study aimed to characterize the autonomic and chaotic control of heart rate and circadian rhythm in asymptomatic patients with postoperative tetralogy of Fallot(pTOF). Methods : Twenty-four-hour electrocardiogram recordings were obtained in 30 asymptomatic pTOF patients and in 30 age-and sex-matched controls, aged between 6 and 11 years. The data was digitized and partitioned into sections of 30-... |
The clinical data of 27 patients with hypophosphatemic rickets treated with phosphate and 1 α-hydroxyvitamin D were analysed retrospectively. The median age at diagnosis was 4 years, and the main clinical manifestations were bowleg and short stature. Among total 24 families, 5 families(21%) had X-linked dominant mode of inheritance, 1 family (4%) had autosomal dominant mode and 17 families (71%)... |
Serum alkaline phosphatase(AP) activity is elevated in hepatobiliary disease, bone disease, pregnancy and certain neoplasms. Recently we experienced marked elevation of serum AP activity after administration of ablumin preparation in nephrotic patients who suffered from hypovolemic symptoms. So serum AP activity and the isoenzymes in the albumin preparations & patient뭩 serum after the administration of albumin preparation were studied. Serum... |