• Investigative Magnetic Resonance Imaging
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• v.19 no.4
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• pp.205-211
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• 2015

The human heart is a complex organ in which many complicated congenital defects may happen and some of them require surgical intervention. Due to the vast complexity of varied anatomical presentations, establishing an accurate and consistent nomenclature system is utmost important to facilitate effective communication among pediatric cardiologists, cardiothoracic surgeons and radiologists. The Van Praagh segmental approach to the complex congenital heart disease (CHD) was developed in the 1960s and has been used widely as the language for describing complex anatomy of CHD over the decades. It utilizes a systematic and sequential method to describe the cardiac segments and connections which in turn allows accurate, comprehensive and unambiguous description of CHD. It can also be applied to multiple imaging modalities such as echocardiogram, cardiac CT and MRI. The Van Praagh notation demonstrates a group of three letters, with each letter representative for a key embryologic region of cardiac anatomy: the atria, ventricles and great vessels. By using a 3-steps approach, we can evaluate complex CHD precisely and have no difficulties in communicating with other medial colleague. This pictorial essay revisits the logical steps of segmental approach, followed by a pictorial illustration of its application.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.5 no.2
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• pp.192-198
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• 2002

Alagille syndrome is characterized by paucity of interlobular bile ducts, chronic cholestasis, characteristic facial abnormalities, cardiovascular abnormalities, posterior embryotoxon, vertebral arch defects, skeletal abnormalities, and glomerular renal involvement. We experienced a case of Alagille syndrome in a 10 month-old male presenting with jaundice. He had chronic cholestasis, characteristic face, cardiovascular abnormalities (aortic stenosis, dextrocardia, double chamber of left ventricle), and situs inversus. Histological examination of liver biopsy specimen revealed paucity of interlobular bile ducts with septal fibrosis, cirrhotic transformation and severe cholestasis. He underwent liver transplantation, but died of cardiopulmonary arrest associated with cardiac anomaly.

• Tuberculosis and Respiratory Diseases
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• v.53 no.4
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• pp.457-462
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• 2002

Karagener's syndrome is an inherited condition characterized by triad of chronic paranasal sinusitis, situs inversus, and bronchiectasis, Since 1976, Afzelius found a lack of dynein arm in immotile spermatozoa by electron microscopy, numerous recent studies have focused on the ultrastructural defect in the cilia and reported that the variety type of ultrastructural defect in immotile cilia syndrome. We report a female patient who had the Katagener's triad with rare multiple ultrastructural defect of cilia in one patient. The electron microscopic examination showed partial dynein arm defect, loss of radial spoke, microtubular transposition, and giant cilia.

• Journal of Chest Surgery
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• v.19 no.4
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• pp.618-626
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• 1986

Univentricular heart is a rare congenital cardiac anomaly in which the atrial chambers are connected to only one ventricular chamber and it consists of a diverse group of cardiac malformation characterized by both AV valves or a common AV valve opening into the same ventricle, or the presence of only a solitary AV valve. In spite of recent development in cardiac surgery, corrective operations for univentricular heart still have high mortality and complication rate. Twenty eight patients underwent corrective operation for univentricular heart at Department of Thoracic and Cardiovascular Surgery, Seoul National University Hospital from February 1979 to July 1986. Of the 28 patients, 7 patients were operated on by ventricular septation and 21 patients by modified Fontan operation. Of the 28 patients, 19 patients were male and 9 patients female and ages ranged from 5 months to 18 years old with the average age of 7.3 years. There were 2 mortalities in 7 patients operated on by septation with the mortality rate of 28.6% and 5 complications, 3 complete AV block, 1 low cardiac output and 1 arrhythmia. All survived patients are being followed up without specific problem till now. There were 10 mortalities in 21 patients operated on by modified Fontan operation with the mortality rate of 47.6% and 10 complications, 2 low cardiac output, 2 respiratory failure necessitating tracheostomy, 2 persistent cyanosis, 2 arrhythmia, 1 missing of left AV valve in situs inversus patient due to misdiagnosis and one rupture of closed right AV valve. Incremental risk factors for operative mortality are young age less than 5 years old, anomalous pulmonary and systemic venous drainage and atrial septation procedure. In 11 survived patients, 9 patients show good follow-up results but one patient complains of persistent cyanosis and another one patient is suffered from CHF. In our series, results of corrective operation for univentricular heart shows continuing improvement but still high mortality and complication rate. So there must be continuing improvement in surgical result by selection of patient, by adequate decision making for timing and method of operation and by improving operative methods.

• Journal of Chest Surgery
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• v.22 no.2
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• pp.272-289
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• 1989

Benign lung tumors compose a heterogeneous group of solid growths that present variations in clinical features, depending on whether the origin is within the bronchus on lung parenchyma or from visceral pleura. Benign tumors of the lung are relatively uncommon, and series are to be found in the literature and the classification of benign tumors of the lung continues to be controversial because of disagreement concerning the origin and prognosis of many common lesions. We adopt Liebows original classification but excluded bronchial adenoma which no longer considered as benign tumor and added pulmonary A-V fistula and congenital cystic adenomatoid malformation. We analyzed 61 cases of benign tumors which were composed of 16 original Korean cases and 45 cases which were reported on journal of Thoracic & Cardiovascular Surgery. The results were. [1] Incidence; Of 61 cases, chondromatous hamartoma was 2 cases [41 %], congenital cystic adenomatoid malformation 10 cases [16.4 %], pulmonary A-V fistula 5 cases [8.1 %], sclerosing hemangioma 4 cases [6.5 %], teratoma, plasma cell granuloma & mesothelioma were 3 cases [4.9%], Castlemans disease 2 cases [3.3%], and mucous gland adenoma, paraganglioma, and leiomyoma 1 case [1.6 %]. [2] Age & Sex distribution; Male 30 cases and female 31 cases. Mean age was 31.4 years old. [3] Main symptom; was coughing, 32.8%, and no symptom, 24.6%. [4] Sixty eight percentage of chest film showed mass density, and 4 cases showed calcification, 2 cases had lobulation. [5] Size of mass was large and multiple mass was 2 cases. Endobronchial tumors were 9 cases, 14.9 %. [6] Three cases of endobronchial tumor were preoperatively diagnosed by bronchoscopy and 2 cases of pulmonary A-V fistula were diagnosed by pulmonary arteriography. [7] Seven cases, 11.5%, had associating diseases such as bronchogenic cyst, thymic cyst, Schwannoma, situs inversus, bronchiectasis and bronchogenic carcinoma. [8] Minor resection such as excision 8i: wedge resection were 15 cases, 26.2 %, and 6 cases, 75.4 %, of lobectomy were performed including 5 cases of pneumonectomy 5 cases had. [9] Postoperative complications; One case, 1.6 %, expired due to respiratory insufficiency. Two cases had re-operation due to bleeding and hemoptysis.

• Tuberculosis and Respiratory Diseases
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• v.43 no.2
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• pp.251-256
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• 1996

Kartagener's syndrome, a congenital disease transmitted as an autosomal recessive illness with a prevalence of approximately 1:20,000 persons, is characterized by the triple association of situs inversus, bronchiectasis, and sinusitis. Affected persons have an incoordination of ciliary motility that leads to defective mucociliary transport, chronic bronchial infections. Kartagener's syndrome is a subset of the immotile cilia syndrome and therefore all patients with Kartagener's syndrome have immotile cilia with obvious ultrastructural defects in the ciliary axoneme. In the respiratory tract this inability presumably causes impaired clearance of mucus and inhaled particles and results in the chronic infections of the sinuses and bronchial trees that are characterized of the disease. The end-stage phenomenon in Kartagener's syndrome, respiratory or heart failure is a less common event and heart-lung transplantation is becoming an accepted therapy for patients with end-stage pulmonary disease in Kartagener's syndrome in many institutes. We report one case of Kartagener's syndrome in a 25-year-old young woman who was presented as respiratory and right heart failures, with review of literatures.

• Development and Reproduction
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• v.12 no.3
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• pp.289-296
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• 2008

BPES (Blepharophimosis/Ptosis/Epicanthus inversus Syndrome) is an autosomal dominant disorder caused by mutations in FOXL2. Affected individuals have premature ovarian failure (POF) in addition to small palpebral fissures, drooping eyelids, and broad nasal bridge. FOXL2 is a member of the forkhead family transcription factors. In FOXL2-deficient ovaries, granulosa cell differentiation dose not progress, leading to arrest of folliculogenesis and oocytes atresia. Using yeast two-hybrid screening of rat ovarian cDNA library with FOXL2 as bait, we found that small ubiquitin-related modifier (SUMO)-conjugating E2 enzyme UBE2I protein interacted with FOXL2 protein. UBE2I also known as UBC9 is an essential protein for processing SUMO modification. Sumoylation is a form of post-translational modification involved in diverse signaling pathways including the regulation of transcriptional activities of many transcriptional factors. In the present study, we confirmed the protein-protein interaction between FOXL2 and UBE2I in human cells, 293T, by in vivo immunoprecipitation. In addition, we generated truncated FOXL2 mutants and identified the region of FOXL2 required for its association with UBE2I using yeast-two hybrid system. Therefore, the identification of UBE2I as an interacting protein of FOXL2 further suggests a presence of novel regulatory mechanism of FOXL2 by sumoylation.

• Tuberculosis and Respiratory Diseases
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• v.77 no.3
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• pp.136-140
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• 2014

Primary ciliary dyskinesia (PCD) is characterized by the congenital impairment of mucociliary clearance. When accompanied by situs inversus, chronic sinusitis and bronchiectasis, PCD is known as Kartagener syndrome. The main consequence of impaired ciliary function is a reduced mucus clearance from the lungs, and susceptibility to chronic respiratory infections due to opportunistic pathogens, including nontuberculous mycobacteria (NTM). There has been no report of NTM lung disease combined with Kartagener syndrome in Korea. Here, we report an adult patient with Kartagener syndrome complicated with Mycobacterium abscessus lung disease. A 37-year-old female presented to our hospital with chronic cough and sputum. She was ultimately diagnosed with M. abscessus lung disease and Kartagener syndrome. M. abscessus was repeatedly isolated from sputum specimens collected from the patient, despite prolonged antibiotic treatment. The patient's condition improved and negative sputum culture conversion was achieved after sequential bilateral pulmonary resection.

• Journal of Chest Surgery
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• v.32 no.7
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• pp.621-627
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• 1999

Background: Sixty five cases with congenitally corrected transposition of the great arteries (CCTGA) indicated for biventricular repair were operated on between 1984 and september 1998. Comparison between the results of the conventional(classic) connection(LV-PA) and the anatomic repair was done. Material and Method: Retrospective review was carried out based on the medical records of the patients. Operative procedures, complications and the long-term results accoding to the combining anomalies were analysed. Result: Mean age was 5.5$\pm$4.8 years(range, 2 months to 18years). Thirty nine were male and 26 were female. Situs solitus {S,L,L} was in 53 and situs inversus{I,D,D} in 12. There was no left ventricular outflow tract obstruction(LVOTO) in 13(20%) cases. The LVOTO was resulted from pulmonary stenosis(PS) in 26(40%)patients and from pulmonary atresia(PA) in 26(40%) patients. Twenty-five(38.5%) patients had tricuspid valve regurgitation(TR) greater than the mild degree that was present preoperatively. Twenty two patients previously underwent 24 systemic- pulmonary shunts previously. In the 13 patients without LVOTO, 7 simple closure of VSD or ASD, 3 tricuspid valve replacements(TVR), and 3 anatomic corrections(3 double switch operations: 1 Senning+ Rastelli, 1 Senning+REV-type, and 1 Senning+Arterial switch opera tion) were performed. As to the 26 patients with CCTGA+VSD or ASD+LVOTO(PS), 24 classic repairs and 2 double switch operations(1 Senning+Rastelli, 1 Mustard+REV-type) were done. In the 26 cases with CCTGA+VSD+LVOTO(PA), 19 classic repairs(18 Rastelli, 1 REV-type), and 7 double switch operations(7 Senning+Rastelli) were done. The degree of tricuspid regurgitation increased during the follow-up periods from 1.3$\pm$1.4 to 2.2$\pm$1.0 in the classic repair group(p<0.05), but not in the double switch group. Two patients had complete AV block preoperatively, and additional 7(10.8%) had newly developed complete AV block after the operation. Other complications were recurrent LVOTO(10), thromboembolism(4), persistent chest tube drainage over 2 weeks(4), chylothorax(3), bleeding(3), acute renal failure(2), and mediastinitis(2). Mean follow-up was 54$\pm$49 months(0-177 months). Thirteen patients died after the operation(operative mortality rate: 20.0%(13/65)), and there were 3 additional deaths during the follow up period(overall mortality: 24.6%(16/65)). The operative mortality in patients underwent anatomic repair was 33.3%(4/12). The actuarial survival rates at 1, 5, and 10 years were 75.0$\pm$5.6%, 75.0$\pm$5.6%, and 69.2$\pm$7.6%. Common causes of death were low cardiac output syndrome(8) and heart failure from TR(5). Conclusion: Although our study could not demonstrate the superiority of each classic or anatomic repair, we found that the anatomic repair has a merit of preventing the deterioration of tricuspid valve regurgitations. Meticulous selection of the patients and longer follow-up terms are mandatory to establish the selective advantages of both strategies.