• Journal of Chest Surgery
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• v.35 no.1
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• pp.52-55
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• 2002

We report one case of an 18-day-old female patient, weighing 3.4 kg, with severe cyanosis. The diagnosis was made with only transthoracic echocardiography, which revealed cor triatriatum with an atretic small opening of fibromuscular membrane, obstructive infracardiac total anomalous pulmonary venous drainage(TAPVD), severely restrictive interatrial communication, and scanty mitral inflow and aortic forward flow. The preoperative decision-making for biventricular repair was not easy due to collapsed left heart system caused by remarkably reduced blood flow An emergent operation was performed due to severe cyanosis. All left heart structures were somewhat hypoplastic but thought to be adequate for systemic circulation. Biventricular repair was done without specific intraoperative problems. The postoperative course was uneventful. The patient has been doing well with no evidence of pulmonary vein stenosis or mitral regurgitation for 4 months after operation.

• Journal of Chest Surgery
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• v.26 no.7
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• pp.543-547
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• 1993

Cor triatriatum is a rare entity of congenital heart disease characterized by the presence of a fibrousmuscular diaphragm that subdivides the left atrium into a proximal or "accessory" chamber and a distal or "true" left atrial chamber. In the other hand, cor triatriatum is a variant of abnormal connection between the pulmonary vein and true left atrium which is separated from accessory left atrium receiving pulmonary venous blood flow by fibromuscular diaphragm. We experienced two cases of cor triatriatum. One of them was classical, and the other case was combined with atrial septal defect and all pulmonary veins were drained into the " common pulmonary venous chamber " which connected with right atrium and there was no direct communication between the accessory chamber and true left atrium. The abnormal diaphragms were excised and the atrial septal defect was repaired with pericardial patch in case II. The postoperative courses were not eventful and the patients were discharged with good result, and have been in good condition upto now.n good condition upto now.

• Journal of Chest Surgery
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• v.18 no.2
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• pp.293-298
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• 1985

Cor triatriatum is a rare congenital malformation of the heart in which a septum stretches in a transverse plane through the left atrium, thus creates two left atrial subchambers. The upper one connects with the pulmonary veins, and the lower connects with the left ventricles. Due to the rarity of, and difficulty in diagnosing car triatriatum, data on the surgery of the disease are of necessity and very limited. A case of cor triatriatum combined with atrial septal defect and persistent left superior vena cava was experienced in November, 1984 in Chonnam University Medical School. There was a transverse septum in the left atrium below atrial septal defect, all pulmonary veins were drained into the upper chamber of the left atrium which connected with the right atrium via atrial septal defect and the lower chamber via an oval opening[8mm] in the abnormal septum and the lower chamber was connected with the left atrial appendage, and the left ventricle via mitral valve. There was persistent left superior vena cava drained to left atrium and coronary sinus. The abnormal transverse septum within the left atrium was completely excised and the atrial septal defect was repaired with Woven Dacron patch. The post-operative course was not eventful and the patient was discharged to home with good result on the 15th postoperative day, and has been in good condition upto now.

• Journal of Chest Surgery
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• v.35 no.6
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• pp.430-438
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• 2002

It is known that low birth weight is a risk factor for poor outcome in cardiac surgery for many cardiac defects. We reviewed our recent surgical experiences on congenital heart defect (other than patent ductus arteriosus) in low birth weight babies. Material and Method: From September 1994 to February 2001, 31 consecutive infants weighing 2500 g or less underwent cardiac surgery with (OHS group n=12) or without cardiopulmonary bypass (CHS group n=19). A retrospective study was carried out to evaluate short-and intermediate-term outcome. Mean gestational age and age at operation were 36.9 weeks(range, 32.3-42weeks) and 32.1days (range, 0-87days) respectively. Mean body weight at birth and operation were 1972g (range, 1100-2500g) and 2105g (range, 1450-2500 g) respectively. There was no difference between the two groups in age and body weight. Defects included ventricular septal defect (VSD) (n=3), VSD with arch anomaly (n=2), total anomalous pulmonary venous return (n=2), transposition of the great arteries (TGA) (n=2), truncus arteriosus (n=2), and univentricular heart with cor triatriatum (n=1) in OHS group, and coarctation of aorta (n=7), tetralogy of Fallot (TOF) (n=3), TOF with pulmonary atresia (n=3), multiple muscular VSDs (n=1), double outlet right ventricle (n=1), pulmonary atresia with intact ventricular septum (n=2), tricuspid atresia (n=1), and TGA with multiple VSD (n=1) in CHS group. 13 patients (41.9%) were intubated pre-operatively. Result: There were 4 early deaths(＜30 days); 1 (8.3%) in OHS group and 3 (15.8%) in non-OHS group. All these early deaths were related to the pulmonary artery banding(PAB). There was no operative mortality in infants undergoing complete repair and palliative operations other than PAB. Delayed sternal closure was required in 3 patients. Prolonged postoperative mechanical ventilation (>7 days) was required in 7 patients(58.3%) in OHS and 7(38.8%) in CHS group. Late mortality occurred in 3 patients, two of which were non-cardiac. A patient in OHS group was documented to have neurologic sequelae. All the survivors except two are in NYHA class 1. Conclusion: Complete repair and palliative operations other than PAB can be performed in low birth weight infants with low operative mortality and an acceptable intermediate-term result. However, about a half of the patients required long-term postoperative mechanical ventilation.

• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.