Systemic arterialization of the lung without sequestration is the rarest form of congenital anomalous systemic arterial supply to the lung, where an anomalous systemic artery arising from aorta supplies a normal unsequestrated segment of the lung. The non-sequestrated lung parenchyma which is supplied by an aberrant artery, has no parenchymal or bronchial abnormalities, and there is a normal connection with the bronchial trees. The symptoms of this disease varies. In most patients, it is often asymptomatic, but symptoms including dyspnea, hemoptysis, and central nervous system complications are possible. Here, we report a case of systemic arterialization of the lung without sequestration, which confirmed by angiography, with a review of the literature.
Baik, Ran;Kim, Nam Kyun;Park, Han Ki;Park, Young Hwan;Yoo, Byung Won;Choi, Jae Young
Clinical and Experimental Pediatrics
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v.53
no.2
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pp.248-252
/
2010
Anomalous origins of coronary arteries are a rare type of disease among children. These anomalies can be categorized into 3 types according to the anatomical relationship of the aorta and pulmonary trunks. Among these types, the interarterial type, as observed in our case, needs early diagnosis and treatment, because it can increase the risk for the patient, causing sudden cardiac death in young individuals. Although there are controversies concerning the management of anomalous origins of the left coronary artery (LCA) in children, the result can be very beneficial, if treated accurately. Three well-known methods for correction of anomalous origins of LCA are re-implantation, coronary arterial bypass grafting (CABG), and unroofing. We report on the case of a 12-year-old girl who had chest discomfort and syncope with physical exercise and was later diagnosed with an anomalous origin of LCA by transthoracic echocardiography (TTE) and heart computed tomography (CT). She underwent a corrective operation by re-implantation, CABG, and unroofing.
Yoon, Ja Kyoung;Ahn, Kyung Jin;Kwon, Bo Sang;Kim, Gi Beom;Bae, Eun Jung;Noh, Chung Il;Ko, Jung Min
Clinical and Experimental Pediatrics
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v.58
no.7
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pp.256-262
/
2015
Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.
Tetralogy of Fallot is a cyanotic congenital heart disease characterized by large ventricular septal defect[VSD] and stenosis of right ventricular outflow tract[RVOT] and the degree of RVOT stenosis and the state of pulmonary arteries are the major determinant of prognosis of this anomaly after operation. The sum of blood flow through RVOT and collateral flow from systemic arteries determine the total pulmonary blood flow and it is drained to left atrium and left ventricle. Therefore the degree of development of left ventricle not only reflects pulmonary blood flow and the status of peripheral pulmonary arteries but also affects postoperative prognosis as a systemic ventricle. In this article, left ventricular volume and its influence on postoperative cardiac function in tetralogy of Fallot were studied in 34 patients operated on at Department of Thoracic and Cardiovascular Surgery, Seoul National University Hospital in 1985. Mean age of the patients was 5 1/12*3 9/12 years[range 9/12 - 14 8/12 years], mean body surface area[BSA] 0.65*0.20m2[range 0.38 - 1.22m2], mean body weight 15.6k6.48kg[range 7.0 - 36kg]and mean hematocrit 50.6*9.77%[range 32.0 - 73.5%]. Left ventricular end-diastolic volume[LVEDV] of them were from 11.2 to 113cc and there was a good linear correlation between BSA[m2, X]and LVEDV[cc, Y][Y= - 20.0+923x, r= 0.84, p < 0.005]. Mean LVEDV/m2 was [57.6 * 18.3 cc / m2[range 28.7 - 95.8 cc / m2] and there was a significant reduction of volume compared with normal value. As body surface increases, there was a increasing tendency in LVEDV/m2 but there was no statistical significance. Mean total amount of postoperatively infused dopamine in these 33 patients[except one who expired postoperatively] was 65.6*74.5mg / kg and it was 40.6*44.0mg / kg in routine RVOT widening group [Group I] and 205*49.3mg / kg in transannular RVOT widening group[Group II]. There was a statistically significant difference between two groups. In group I patients there was a good linear inverse correlation between dopamine total amount[mg / kg, Y] and LV volume[cc / m2, X] [Y = 150 - 1.89 X, r = - 0. 77, p < 0.005]. But there were no correlations between dopamine total amount and Hct, cardiopulmonary bypass time and aorta cross clamp time. In conclusion, the patient with small preoperative left ventricular volume required more amount of dopamine as an inotropic agent for the maintenance of a cardiac function in postoperative period. But this is a result of immediate postoperative period and does not reflect the long term effect of left ventricular volume in tetralogy of Fallot. There must be more study for the evaluation of its long term effect.
Kim, JaeBum;Choi, Sae-Young;Park, Nam-Hee;Kum, Dong-Yoon;Park, Hoon;Hwang, Eun Ah
Journal of Chest Surgery
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v.43
no.1
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pp.100-103
/
2010
We report her on a rare case of a renal stent that migrated into the right ventricle in a patient with nutcracker syndrome. A 29-year-old woman was admitted to the hospital and she was suffering from flank pain. The computed tomography of the abdomen demonstrated that the left renal vein was compressed between the abdominal aorta and the superior mesenteric artery (nutcracker syndrome). A self expandable stent was placed across the left renal vein for treating her nutcracker syndrome. The next day after the procedure, the follow up chest radiograph showed that the displaced stent had migrated into the right ventricle. After percutanous endovascular stent removal had failed, the stent was ultimately removed by performing cardiac surgery. At the $6^{th}$ postoperative month, there have been no abdominal or cardiac symptoms.
Background: Hypothermia protects the brain by suppressing the cerebral metabolism and it is performed well enough before the total circulatory arrest(TCA) in the operation of aortic disease. Generally, TCA has been performed depending on the rectal or nasopharyngeal temperatures; however, there is no definite range of optimal temperature for TCA or an objective indicator determining the temperature for safe TCA. In this study, we tried to determine the optimal range of temperature for safe hypothermic circulatory arrest by using the intraoperative electroencephalogram(EEG), and studied the role of EEG as an indicator of optimal hypothermia. Material and Method: Between March, 1999 and August 31, 2000, 27 patients underwent graft replacement of the part of thoracic aorta using hypothermia and TCA with intraoperative EEG. The rectal and nasopharyngeal temperatures were monitored continuously from the time of anesthetic induction and the EEG was recorded with a ten-channel portable electroencephalography from the time of anesthetic induction to electrocerebral silence(ECS). Result: On ECS, the rectal and nasopharyngeal temperatures were not consistent but variable(rectal 11$^{\circ}C$ -$25^{\circ}C$, nasopharynx 7.7$^{\circ}C$ -23$^{\circ}C$). The correlation between two temperatures was not significant(p=0.171). The cooling time from the start of cardiopulmonary bypass to ECS was also variable(25-127min), but correlated with the body surface area(p=0.027). Conclusion: We have found that ECS appeared at various body temperatures, and thus, the use of rectal or nasopharyngeal temperature were not useful in identifying ECS. Conclusively, we can not fully assure cerebral protection during hypothermic circulatory arrest in regards to the body temperatures, and therefore, the intraoperative EEG is one of the necessary methods for determining the range of optimal hypothermia for safe circulatory arrest. :
This study aimed to investigate the effects and potential mechanisms of Chikusetsusaponin V (CsV) on endothelial nitric oxide synthase (eNOS) and vascular endothelial cell functions. Different concentrations of CsV were added to animal models, bovine aorta endothelial cells (BAECs) and human umbilical vein endothelial cells (HUVECs) cultured in vitro. qPCR, Western blotting (WB), and B ultrasound were performed to explore the effects of CsV on mouse endothelial cell functions, vascular stiffness and cellular eNOS mRNA, protein expression and NO release. Bioinformatics analysis, network pharmacology, molecular docking and protein mass spectrometry analysis were conducted to jointly predict the upstream transcription factors of eNOS. Furthermore, pulldown and ChIP and dual luciferase assays were employed for subsequent verification. At the presence or absence of CsV stimulation, either overexpression or knockdown of purine rich element binding protein A (PURA) was conducted, and PCR assay was employed to detect PURA and eNOS mRNA expressions, Western blot was used to detect PURA and eNOS protein expressions, cell NO release and serum NO levels. Tube formation experiment was conducted to detect the tube forming capability of HUVECs cells. The animal vasodilation function test detected the vasodilation functions. Ultrasonic detection was performed to determine the mouse aortic arch pulse wave velocity to identify aortic stiffness. CsV stimulus on bovine aortic cells revealed that CsV could upregulate eNOS protein levels in vascular endothelial cells in a concentration and time dependent manner. The expression levels of eNOS mRNA and phosphorylation sites Ser1177, Ser633 and Thr495 increased significantly after CsV stimulation. Meanwhile, CsV could also enhance the tube forming capability of HUVECs cells. Following the mice were gavaged using CsV, the eNOS protein level of mouse aortic endothelial cells was upregulated in a concentration- and time-dependent manner, and serum NO release and vasodilation ability were simultaneously elevated whereas arterial stiffness was alleviated. The pulldown, ChIP and dual luciferase assays demonstrated that PURA could bind to the eNOS promoter and facilitate the transcription of eNOS. Under the conditions of presence or absence of CsV stimulation, overexpression or knockdown of PURA indicated that the effect of CsV on vascular endothelial function and eNOS was weakened following PURA gene silence, whereas overexpression of PURA gene could enhance the effect of CsV upregulating eNOS expression. CsV could promote NO release from endothelial cells by upregulating the expression of PURA/eNOS pathway, improve endothelial cell functions, enhance vasodilation capability, and alleviate vessel stiffness. The present study plays a role in offering a theoretical basis for the development and application of CsV in vascular function improvement, and it also provides a more comprehensive understanding of the pharmacodynamics of CsV.
Background: To evaluate the efficiency of surgical treatment in patients with cardiac valvular and arterial involvement of Behcet's syndrome. Material and Method: 12 patients underwent surgical treatment due to the valvular heart diseases and the various arterial diseases associated with Behest's syndrome over 7 years; 6 with valvular heart disease, 1 with annuloaortic ectasia, 1 with ascending aortic aneurysm, 4 with pseudoaneurysms in abdominal aorta(n=2), carotid artery(n=1), and popliteal artery(n=1). All 12 patients had received valvular replacement(n=6) and the artificial(n=5) or autologous(n=1) graft interposition. We followed the results of these surgical treatments. Result: Operations were technically successful in all 12 patients and peri-operative complication was not demonstrated. However, 10 patients had recurrences; 6 with valvular dehiscence, 3 with pseudoaneurysm at anastostomosis site, and 1 with aorto-duodenal fistula. The duration of recurrence was 1 to 55 months(mean: 15.7$\pm$ 16.2 months). 7 patients underwent the second operation and among them, 4 patients showed repeated recurrences. Overall, 5 patients died 2 to 25 months after the operation(mean: 13.6 months), because of the bleeding at the anastomosis site Five patients did not present recurrence after the first(n=2) or the second operation(n=3) and their follow up duration was 5 to 60 months(mean: 45.8$\pm$41.7 months). Five patients received immune-suppressive therapy after the first(n=2) and second operation(n=3). Three did not shown recurrence for the 13, 29 and 33 months. Conclusion: Post-operative prognosis of arterial manifestation of Behcet's syndrome was not encouraging and if possible, other treatment strategy should be considered.
Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
Journal of The Korean Society of Inherited Metabolic disease
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v.17
no.3
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pp.103-108
/
2017
Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.
Lee Jeong Ryul;Oh Sea Jin;Kim Woong Han;Kim Yong Jin;Rho Joon Ryang;Bae Eun Jung;Noh Chung II;Yun Yong Soo
Journal of Chest Surgery
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v.38
no.8
s.253
/
pp.523-528
/
2005
Background: Investigation of the change of ventricular function and mitral regurgitation after surgical repair of patient with anomalous origin of left coronary artery from the pulmonary artery (ALCAPA) is key issue for the better surgical outcome. Material and Method: From April 1986 to July 2002, 12 patients presented with ALCAPA. The median age at repair was 4 months. Surgical methods included left coronary artery transfer to the aorta (10), Takeuchi procedure (1), saphenous vein free graft bypass (1). Mitral valve was repaired in 1. Result: There were 2 hospital death $(16.7\%)$. The mean follow-up period was $7.1\pm4.1$ years (range, 7 months to 13 years). Four patients required postoperative circulatory assist for $2.2\pm1.1$ days and one needed left ventricular assist device (LVAD) for 1day. Postoperative echocardiography demonstrated significant improvements in mean fractional shortening $(33.4\pm9.1\%\;vs\;17.7\pm9.6\%,\;n=10,\;p<0.05);$ left ventricular end diastolic dimension $(33.4\pm7.3\;mm\;vs\;44.8\pm7.0\;mm,\;n=10,\;p<0.05)$ and systolic dimension $(22.2\pm7.5\;mm\;vs\;33.4\pm7.9\;mm,\;n=10,\;p<0.05)$. Severities of mitral regurgitation decreased in all survivors at 1st and 4th year follow-up echocardiography. There were 2 reoperation due to residual MR and right ventricular outflow obstruction (Takeuchi case). Conclusion: Anatomic repair of anomalous left coronary artery from the pulmonary artery offered an excellent surgical results, especially in terms of the recovery of left ventricle function and mitral regurgitation. However, preoperative indications for mitral procedure is to be evaluated.
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