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
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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.
Aneurysm of the sinus of Valsalva is fairly rare. Between 1987 and 1994, we operated on a total of 12 cases of aneurysm of the sinus of Valsalva at the Inje University Seoul Paik Hospital. This represents 0.7% of all cardiac operation under cardiopulmonary bypass. There were eight male and four female patients aged from 8 to 38 years(mean, 19.2 years). 8 of 12 patients had ruptured aneurysms. The origin of aneurysm of the sinus of Valsalva was the right coronary sinus in 10(83. 3%), and the noncoronary sinus in 2(16.6%). In ruptured aneurysm, the origin was the right oronary sinus in 6, and the noncoronary sinus in 2. The aneurysms originating from the right coronary sinus ruptured into the right ventricle in 5, and into both the right atrium and right ventricle in 1. The aneurysms originating from the noncoronary sinus ruptured into the right ventricle in 1, and into the right atrium in 1. Associated congenital cardiac defects included ventricular septal defect in 10(83.3%) patients 39 cases of these were associated with the aneurysms of the right coronary sinus), aortic regurgi- tation in 3 (all of these had an additional ventricular septal defect), mitral regurgitation in 1, and double chambered right ventricle in 1. No hospital deaths occurred, although one late death occurred as a result of endocarditis 15 months after the first operation. The mean follow-up period was 29 months, range from 4 to 60 months. Eleven patients except one late death were in New York Heart Association class 1. Due to the low mortality risk o( an operation for aneur sm of the sinus of Valsalva, a ruptured aneurysm of the sinus of Valsalva should be corrected surgically when the diagnosis is mane, and unruptured aneurysm of the sinus of Valsava with complication should also be operated. In most cases the aorta was opened to examine the morphology of the aneurysm and the aortic cusps, and an associated aortic valve defect should be corrected simultaneously.
We assessed the intermediate-term result of tricuspid annuloplasty (TAP) for tricuspid valve regurgitation (TR) associated with congenital heart disease in adults. Risk factors for residual TR were also analysed. Material and Method: From August 1989 to June 2001, seventy three adult patients, 51 females and 22 males, underwent TAP for TR associated with various congenital heart disease. Their age ranged from 46 years to 73 years (mean:43). Associated heart anomalies were atrial septal defect (55), ventricular septal defect (6), partial anomalous pulmonary venous return (4) and others (8). Preoperative and post-operative TR velocities were 3.25 m/sec and 2.56 m/sec respectively, and the types of TAP were De Vega in 43, Kay in 18 and Ring annuloplasty in 12. Postoperative follow-up duration was 2,347 patient-month (mean: 32.6 months), and 134 two-dimensional echocardiographic examinations were done during this period. Residual TR greater than III/IV was considered as TAP failure. Result: TAP failure was observed in 7 patients (9.6%), and one patient among them underwent tricuspid valve replacement. Risk factors for TAP failure were diagnosis other than atrial septal defect (p=0.001), preoperative (p=0.038) and postoperative (p=0.028) high TR velocity. There was no statistical significance in terms of TAP methods. Conclusion: Careful evaluation of valve morphology and aggressive surgical intervention are mandatory for the repair of TR with preoperative or residual RV pressure overload.
Kim Sung-Jin;Cho Beum-Sang;Lee Seung-Young;Bae Il-Hun;Han Ki-Seok;Lee Ki-Man;Hong Jong-Myeon
Journal of Chest Surgery
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v.39
no.8
s.265
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pp.573-578
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2006
Background: Generally hernia is diagnosed with simple chest or gastrointestinal x-ray. Sometimes CT or MRI can give lots of information for the diagnosis. However, there was no study for the differentiation with using CT findings between Morgagni hernia and pleuropericardial fat. The aim of this study was to evaluate the useful CT findings for differentiating Morgagni hernia from pleuropericardial fat. Material and Method: We retrospectively analyzed CT scans of eight patients with Morgagni hernia and 20 patients with abundant pleuropericardial fat without peridiaphragmatic lesions. All CT scans were performed with coverage of the whole diaphragm in the inspiration state. We evaluated 1) the presence of the defect of the anterior diaphragm, 2) the interface between the lung and fat, 3) the angle between the chest wall and fat, 4) the continuity between the extrapleural fat and fat, 5) the presence of the vessels within fat, and 6) the presence of a thin line surrounding fat. Result: In all cases with Morgagni hernia, the defect of the anterior diaphragm was seen. The interface was well-defined, smooth, and convex to the lung. The angle with the chest wall was acute. The continuity with the extrapleural fat was not seen. In the cases with abundant pleuropericardial fat, the defect of the anterior diaphragm was seen in three (15%). The interface was usually irregular (n=10) and flat (n=17). The angle with the chest wall was variable. The continuity with the extrapleural fat, that was markedly increased in amount, was usually seen (n=16). The thin line surrounding fat was seen in four cases with Morgagni hernia, however, not seen in all cases with pleuropericardial fat. All of the above findings were statistically significant, however, vessels within fat was not significant to differentiate Morgagni hernia (n=8/8) from pleuropericardial fat (n=14/20). Conclusion: The useful CT findings of Morgagni hernia were fatty mass with sharp margin, convexity toward lung, acute angle with chest wall, and thin line surrounding hernia. Branching structure within fatty mass representing omental vessels that has been known as a characteristic finding of Morgagni hernia was not useful for differentiating Morgagni hernia from pleuropericardial fat.
Background: Twelve patients with acyanotic tetralogy of Fallot(TOF), characterized by the combination of a malaligned ventricular septal defect(VSD) and infundibular pulmonic stenosis with the clinical finding of acyanosis at rest, underwent surgical correction between January 1988 and July 1997. Materials and methods: 9.92% of patients with the diagnosis of TOF were acyanotic TOF in the same period. Ages ranged from 12 to 42 months(mean 25.2 months). 2D-echocardiographic studies, cardiac catheterization, and angiocardiograms were performed in all patients before operation. The preoperative mean systemic arterial oxygen saturation was 93.5%. According to the 2D-echocardiographic analysis, there was Lt-to-Rt shunt through VSD in 4 patients, bidirectional shunt in 2 patients, and no shunt in 6 patients. Results: The preoperative mean right ventricle to pulmonary artery(RV-PA) pressure gradients were 52.3 mmHg on 2D- echocardiogram and 48.4 mmHg on cardiac catheterization. The repair of ventricular septal defect was performed through a right atrial approach and the hypertrophic infundibular muscle bundles were resected by the transatrial and transpulmonary approach. Six patients(50%) received a transannular patch. The mean cardiopulmonary bypass time was 135.0 minutes, and the aortic crossclamp time was 87.8 minutes. Postoperative complications included bleeding necessitating reentry in one and chylothorax in one. No patient died after operation and there were no late deaths. Postoperative 2D-echocardiograms revealed tiny patch dehiscence in 5 cases and a moderate RV-PA pressure gradients(mean 15.3 mmHg). All patients were in New York Heart Association functional class 1 after operation. Conclusions: acyanotic TOF is the uncommon form of TOF, and acyanotic TOF can be repaired with a good outcome.
Purpose : Isolated noncompaction of the ventricular myocardium(INVM) is one of the unclassified cardiomyopathies that is characterized by numerous, excessively prominent trabeculations, and deep intertrabecular recesses. We performed this study to evaluate the clinical features of INVM in children. Methods : The medical records of 10 patients with INVM were reviewed. We analyzed the clinical manifestations, hemodynamics, pattern of inheritance, and long-term prognosis of INVM in children. Results : Age at diagnosis was $45{\pm}53months$(1 day-14 years) with follow-up lasting as long as 78 months. Most INVM was asymptomatic on diagnosis. Associated cardiac anomalies were noted in six patients(ventricualr or atrial septal defect, patent ductus arteriosus with mitral valve prolapse, or mitral valve cleft). Depressed or flat changes of T wave in lead II, III and aVF were observed on electrocardiography. Various arrhythmia including WPW syndrome with paroxysmal supraventricular tachycardia, third-degree atrioventricular block, and familial sick sinus node dysfuction were observed. The degree of trabeculation in INVM was significantly prominent from level of mitral valve to apex compared to age-matched control. Familial recurrences were noted in two patients. The systolic function of the left ventricle was decreased in 20% of patients during the follow-up period, but systemic embolism or ventricular tachycardia was not observed. Conclusion : INVM is not a rare disorder. The cardiac function may be deteriorated in children as well as adults during long-term follow up. Thus early diagnosis and long-term follow-up must be done. So, the nation-wide multicenter clinical study would be mandatory to evaluate the incidence, long-term prognosis, and establishment of objective diagnostic criteria of INVM.
Background: Since Ross and Sormeville first reported the use of aortic homograft valve for correction of pulmonary atresia in 1966, homograft valves are widely used in the repair of congenital anomalies as conduits between the pulmonary ventricle and pulmonary arteries. On the basis of these results, we have used it actively. In this report, we describe our experience with the use of cryopreserved valved homograft conduits for infants and children requiring right ventricle to pulmonary artery connection in various congenital cardiac anomalies. Material and Method: Between January, 1996 and December 2001, 27 infants or children with a median age of 16 months(range 9days to 18years) underwent repair of RVOTO using homograft valved conduit by two surgeons. We studied 22 patients who have been followed up at least more than one year. The diagnosis at operation included pulmonary atresia with ventricular septal defect (n=13), truncus arteriosus (n=3), TGA or corrected TGA with RVOTO (n=6). Homograft valved conduits varied in size from 15 to 26 mm (mean, 183.82 mm). The follow-up period ranged from 12 to 80.4 months (median, 48.4 months). Result: There was no re-operation due to graft failure itself. However, early progressive pulmonary homograft valve insufficiency developed in one patient, that was caused by dilatation secondary to the presence of residual distal pulmonary artery stenosis and hypoplasia after repair of pulmonary atresia with ventricular septal defect. This patient was required reoperation (conduit replacement). During follow-up period, there were significant pulmonary stenosis in one, and pulmonary regurgitation more than moderate degree in 3. And there were mild calcifications at distal anastomotic site in 2 patients. All the calcified homografts were aortic in origin. Conclusion: We observed that cryopreserved homograft conduits used in infant and children functioned satisfactorily in the pulmonic position at mid-term follow-up. To enhance the homograft function, ongoing investigation is required to re-establish the optimal strategy for the harvest, preservation and the use of it.
There are still debates in the literature on the relative benefits of blood cardioplegia and crystalloid cardioplegia in pediatric cardiac surgery. We performed a clinical trial to compare the myocardial protective effect between HTK solution and blood cardioplegic solution in congenital heart surgery. Material and Method: 15 patients who underwent HTK solution cardioplegia (group 1) and 15 patients who underwent blood cardioplegia(group 2) were included in this study. Preoperative and postoperative serial serum cardiac enzyme levels (troponin I, CK-MB, LDH) were measured in all patients. Clinical data were analyzed and compared between the two groups. Result: There were no differences in age and body weight between the two groups. Operative diagnosis included ventricular septal defect (VSD, n=4), atrial septal defect (ASD, n=1), tetralogy of Fallot (TOF, n=4), and other complex heart diseases (n=6) in group 1, VSD (n=7), ASD (n=5), and TOF (n=3) in group 2. Cardiopulmonary bypass times were 99.1$\pm$48.1 minutes in group 1, and 69.3$\pm$27.3 minutes in group 2 (p=0,02). Aortic clamping times were 52.1$\pm$23.6 minutes in group 1, and 37.9$\pm$20.5 minutes in group 2 (p=0.07). There was no mortality and spontaneous defibrillation was possible in all patients. No differences were observed in the serial enzyme levels between the two groups. There were no differences in the duration of inotropic support and ventilator time between the two groups. Conclusion: HTK solution provided comparable myocardial protection compared with blood cardioplegic solution. A single high dose of HTK solution may be safely and conveniently used for an extended periods as well in congenital heart surgery.
Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level III uncommon mosaicism of trisomy 5, 16 and 20,diagnosed prenatally. In case 1 with mosaic trisomy 20, there was a higher mosaic ratio of trisomy 20 in the repeat amniocentesis (62.1%) than in the first (36.6%) with normal fetal ultrasound finding except for a relatively small aorta on a 3-vessel view of the fetal heart. Case 2 showed a low rate of mosaic trisomy 20 (5.25%) in cultured amniocytes but normal karyotype in the repeat amniocentesis, who delivered a normal healthy baby. Case 3 showed a 13.6% of trisomy 16 mosaicism in the 30 cells of cultured amniocytes. Sixty cells from a fetal blood sample at termination showed non-mosaic 46,XX normal karyotype, while skin fibroblasts had 22.5% trisomy 16 in 40 metaphases. The autopsy showed ventricular septal defect (VSD). Case 4 with low grade mosaicism (10.5%) of trisomy 5 resulted in elective termination, though the ultrasoumd showed growsly normal fetus. Although level III mosaicism is regarded as true mosaicism, it is difficult to predict the outcome of the fetus with rare mosaic autosome trisomy. Therefore mosaic autosome trisomy of fetus should be carefully interpreted with more various approaches including repeat sampling and targeted fetal ultrasound.
Jang Woo-Sung;Lim Cheong;Lim Hong-Kook;Min Sun-Kyung;Kwak Jae-Kun;Chung Eui-Seuk;Kim Dong-Jin;Kim Woong-Han
Journal of Chest Surgery
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v.39
no.6
s.263
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pp.434-439
/
2006
Background: Deep hypothermic circulatory arrest during repair of aortic arch anomalies may induce neurological complications or myocardial injury. So we surveyed if the regional cerebral and myocardial perfusion might eliminate those potential side effects. Material and Method: From March 2000 to December 2004, 62 neonates or infants with aortic arch anomaly underwent one stage biventricular repair using the regional perfusion technique by single surgeon. Preoperative diagnosis of the arch anomaly consisted of coarctation (n=46), interruption of the aorta (n=12), hypoplastic left heart syndrome (n=2) and truncus areteriosus (n=2). Combined anomalies were ventricular septal defect (n=51), TAPVR (n=1), PAPVR (n=1) and atrioventricular septal defect (n=2). Arterial cannula was inserted at the innominate artery. Result: The mean regional perfusion time of brain was $28{\pm}10min$. Operative mortality rates was 0 (0/62). Late death was 1 (1/62) during $11{\pm}7$ months of follow-up. Neurologic complications consisted of transient chorea in 1 case. There was no reoperation associated with arch anolamy. Pulmonary complication associated with arch repair occurred in f case which was managed by aortopexy. Conclusion: One-tage rch repair using the regional profusion is safe and effective in minimizing the neurologic and myocardial complications.
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