Pulmonary perfusion scan with radioactive $^{113m}In$-iron hydroxide particle was performed in the 25 cases of heart disease which had been diagnosed by cardiac catheterization prior to surgery from July, 1972 to July, 1973 at the Department of Radiology and Nuclear Medicine, Yonsei Medical College. It consists of 7 mitral stenosis, 2 mitral insufficiency, 1 aortic insufficiency, 3 atrial septal defect, 5 ventricular septal defect, 2 patent ductus arteriosus, 1 transposition of great vessel and 4 Tetralogy of Fallot. Findings of pulmonary perfusion scan in relation to hemodynamic data of cardiac catheterization were examined. 1) Out of 10 cases of acquired valvular heart disease, In 6 cases of mitral stenosis and 1 case of aortic insufficiency, radioactivity was increased at both upper lung. This finding is noted when pulmonary wedge or venous pressure was elevated above 22 mmHg and arterial systolic pressure above 33 mmHg. 2) Out of 15 cases of congenital heart disease. In almost all cases of atrial septal defect and ventricular septal defect except 2 cases, radioactivity was even at both entire lung. In 2 cases of patent ductus arteriosus, radioactivity was decreased especially at the left lung. It is observed that in acyanotic congenital heart disease, radioactivity of lung is not related with pulmonary arterial pressure. In 3 cases of Tetralogy of Fallot, radioactivity was even at both entire lung and in 2 of them, extrapulmonary radioactivity of liver or kidney which depends on size of defect and volume of right to left shunt reversible, was noted.
Surgical treatment of partial endocardial cushion defect was accomplished in Feb. 1984 in this department. The 5 year old male patient had history of frequent upper respiratory tract infection and since his age of 3 years dyspnea on exertion and palpitation were noted but there were no cyanosis and clubbing. A thrill was palpable on the apex and grade IV/IV harsh systolic ejection murmur and diastolic murmur was audible on it. Liver was palpable about 3 finger breadths and no ascites. Chest X-ray revealed increased pulmonary vascularity, moderate cardiomegaly [C-T ratio; 0.69], and enlarged left atrium. EKG showed first degree heart block, RVH, LVH, and LAD. Echocardiogram showed paradoxical ventricular septal movement and abnormal diastolic movement of the anterior leaflet of mitral valve. Right heart catheterization resulted left to right shunt [Qp:Qs:2.1:1 ] and moderate pulmonary hypertension [60/40 mmHg]. Left ventriculogram showed mitral regurgitation [Grade III/IV] and filling of left atrium and right atrium nearly same time. Operative findings were: 1.Primum type atrial septal defect [3x2 cm] 2.Cleft on the anterior leaflet of mitral valve. 3.No interventricular communication and cleft of tricuspid valve leaflet. The mitral cleft was repaired with 4 interrupted sutures. The primum type atrial septal defect was closed with Dacron patch intermittently at endocardial cushion and continuously remainder. The post operative course was uneventful and discharged on 22nd postoperative day in good general conditions.
As OHS is prevalent on whole world, LV-RA shunts once thought as quite rare congenital heart disease are reported frequently. Two cases of LV-RA shunts were operated at N.M.C. in 1983: One of them combined VSD, the other membranous ventricular septal aneurysm protruding into right atrial chamber. In case 1, which was diagnosed correctly, right atriotomy was enough to close the defect under ECC, but in case 2, which was misdiagnosed as ASD preoperatively, atriotomy was added to ventriculotomy. The LV-RA defects were closed by U-shaped direct suture with Teflon felt pledget. Postoperative course was uneventful in both of them.
Shin, Ji Hye;Lim, Han Hyuk;Gang, Mi Hyeon;Kim, Seon Young;Yang, Shin-seung;Chang, Mea-young
Journal of Genetic Medicine
/
v.18
no.2
/
pp.147-151
/
2021
The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.
Two patients operated upon for tricuspid atresia by Glenn operation are presented. They were five years old and four years old females who were cyanotic shortly after birth, and remained cyanotic. On physical examination, cyanosis on digits and lips, clubbing of fingers, thrill and grade III systolic murmur on 4th I.C.S. along left sternal border were noted. In the first case, chest roentgenograms showed normal pulmonary markings, and the electrocardiogram was interpreted as showing left ventricular hypertrophy with left axis deviation and peaked P-wave in lead IL Right heart catheterization showed high pressure in right atrium and the catheter tip was easily inserted into the left atrium through septal defect. In the second case, chest roentgenograms showed cardiomegaly with sparse pulmonary vascular markings and narrowed vascular pedicle, and the electrocardiogram showed left ventricular hypertrophy with some element of right atrial hypertrophy. Angiocardiogram showed changes characteristic of tricuspid atresia, including "right ventricular window" The findings of right heart catheterization were similar to those of first case. On the basis of these observations, they were diagnosed as tricuspid atresia, and Glenn operation was performed. Normal position of great vessels combined with ventricular septal defect and pulmonary stenosis were noted on the first case, and on second case, transposition of great vessels was additional finding. Postoperative course was uneventful and favorable outcome was obtained.
Corrected transposition of the great arteries [C-TGA] is one of the rare congenital heart disease in which there is both a discordant atrioventricular relationship and transposition of the great vessels. With this arrangement, systemic venous blood passes through the right atrium into the morphologic left ventricle and out the pulmonary artery. Pulmonary venous blood returns to the left atrium, flows into the morphologic right ventricle and out the aorta. Thus, in the rare case when no additional cardiac anomaly is present, a hemodynamically normal heart exists. But more often they are symptomatic as a result of one or several of the commonly associated defects. This paper describes 13 patients who underwent repair of one or more cardiac anomalies associated with corrected transposition at SN UH, from June 1976 through June 1984. 1.8 were males and 5 females, with ages ranging from 3 years to 27 years. 2. Segmental anatomy was {S,L,L} in 12, or {I,D,D} in 1. 3.Associated anomalies were ventricular septal defect in 10, pulmonary outflow tract obstruction in 6, tricuspid insufficiency in. 4, atrial septal defect in 3, subaortic stenosis in 1, mitral insufficiency in 1, and patent ductus arteriosus in 1. 4.None had complete heart block preoperatively, and 3 developed complete heart block intraoperatively. But one of them recovered sinus rhythm on the postoperative 7th day spontaneously. 5.There were 3 cases of hospital morality. But there was no morality since Dec. 1980. 6.Patients with single ventricle, hypoplastic ventricle or those who had palliative surgery alone are not included in this review.
For years, physicians and anatomists have been interested in the heart that has one functioning ventricle. Various terms have been suggested for this entity including single ventricle, common ventricle, double-inlet left ventricle, cor biatriatum triloculare, and primitive ventricle. In this report, the term "single ventricle" is utilized as suggested by Van Praagh, and is defined as that congenital cardiac anomaly in which a common or separate atrioventricular valves open into a ventricular chamber from which both great arterial trunks emerge. An outlet chamber, or infundibulum, may or may not be present and give rise to the origin of either of the great arteries. This definition excludes the entity of mitral and tricuspid atresia. An 11 year old cyanotic boy was admitted chief complaints of exertional dyspnea and frequent upper respiratory infection since 2 weeks after birth. He was diagnosed as inoperable cyanotic congenital heart disease, and remained without any corrective treatment up to his age of 11 year when he suffered from aggravation of symptoms and signs of congestive heart failure for 2 months before this admission. On 22nd of May 1979, he was admitted for total corrective operation under the impression of tricuspid atresia suggested by a pediatrician. Physical check revealed deep cyanosis with finger and toe clubbing, and grade V systolic ejection murmur with single second heart sound was audible at the left 3rd intercostal space. Development was moderate in height [135 cm] and weight[28Kg]. Routine lab findings were normal except increased hemoglobin [21.1gm%], hematocrit [64 %], and left axis deviation with left ventricular hypertrophy on EKG. Cardiac catheterization and angiography revealed 1-transposition of aorta, pulmonic valvular stenosis, double inlet of a single ventricle with d-loop, and normal atriovisceral relationship [Type III C solitus according to the classification of Van Praagh]. At operation, longitudinal incision at the outflow tract of right ventricle in between the right coronary artery and its branch [LAD from RCA] revealed high far anterior aortic valve which had fibrous continuity with mitral annulus, and pulmonic valve was stenotic up to 4 mm in diameter positioned posterolaterally to the aorta. Ventricular septum was totally defective, and one markedly hypertrophied moderator band originated from crista supraventricularis was connected down to the imaginary septum of the ventricular cavity as a pseudoseptum of the ventricle. Size of the defect was 3X3 cm2 in total. Patch closure of the defect with a Teflon felt of 3.5 x 4 cm2 was done with interrupted multiple sutures after cut off of the moderator band, which was resutured to the artificial septum after reconstruction of the ventricular septum. Pulmonic valvotomy was done from 4 mm to 11 mm in diameter thru another pulmonary arteriotomy incision, and right ventriculotomy wound was closed reconstructing the right ventricular outflow tract with pericardial autograft of 3 x 4 cm2. Atrial septal defect of 2 cm in diameter was closed with 3-0 Erdeck suture, and atrial wall was sutured also when rectal temperature reached from 24`C to 35.5`C. Complete A-V block was managed with temporary external pacemaker with a pacing rate of 110/min. thru myocardial wire, and arterial blood pressure of 80/50 mmHg was maintained with Isuprel or Dopamine dripping under the CVP of 25-cm saline. Consciousness was recovered one hour after the operation when his blood pressure reached 100 /70 mmHg, but vital signs were not stable, and bleeding from the pericardial drainage and complete anuria were persisted until his heart could not capture the pacemaker impulse, and patient died of low output syndrome 320 min after the operation.
For years, physicians and anatomists have been interested in the heart that has one functioning ventricle. Various terms have been suggested for this entity including single ventricle, common ventricle, double-inlet left ventricle, cor biatriatum triloculare, and primitive ventricle. In this report, the term "single ventricle" is utilized as suggested by Van Praagh, and is defined as that congenital cardiac anomaly in which a common or separate atrioventricular valves open into a ventricular chamber from which both great arterial trunks emerge. An outlet chamber, or infundibulum, may or may not be present and give rise to the origin of either of the great arteries. This definition excludes the entity of mitral and tricuspid atresia. An 11 year old cyanotic boy was admitted chief complaints of exertional dyspnea and frequent upper respiratory infection since 2 weeks after birth. He was diagnosed as inoperable cyanotic congenital heart disease, and remained without any corrective treatment up to his age of 11 year when he suffered from aggravation of symptoms and signs of congestive heart failure for 2 months before this admission. On 22nd of May 1979, he was admitted for total corrective operation under the impression of tricuspid atresia suggested by a pediatrician. Physical check revealed deep cyanosis with finger and toe clubbing, and grade V systolic ejection murmur with single second heart sound was audible at the left 3rd intercostal space. Development was moderate in height [135 cm] and weight[28Kg]. Routine lab findings were normal except increased hemoglobin [21.1gm%], hematocrit [64 %], and left axis deviation with left ventricular hypertrophy on EKG. Cardiac catheterization and angiography revealed 1-transposition of aorta, pulmonic valvular stenosis, double inlet of a single ventricle with d-loop, and normal atriovisceral relationship [Type III C solitus according to the classification of Van Praagh]. At operation, longitudinal incision at the outflow tract of right ventricle in between the right coronary artery and its branch [LAD from RCA] revealed high far anterior aortic valve which had fibrous continuity with mitral annulus, and pulmonic valve was stenotic up to 4 mm in diameter positioned posterolaterally to the aorta. Ventricular septum was totally defective, and one markedly hypertrophied moderator band originated from crista supraventricularis was connected down to the imaginary septum of the ventricular cavity as a pseudoseptum of the ventricle. Size of the defect was 3X3 cm2 in total. Patch closure of the defect with a Teflon felt of 3.5 x 4 cm2 was done with interrupted multiple sutures after cut off of the moderator band, which was resutured to the artificial septum after reconstruction of the ventricular septum. Pulmonic valvotomy was done from 4 mm to 11 mm in diameter thru another pulmonary arteriotomy incision, and right ventriculotomy wound was closed reconstructing the right ventricular outflow tract with pericardial autograft of 3 x 4 cm2. Atrial septal defect of 2 cm in diameter was closed with 3-0 Erdeck suture, and atrial wall was sutured also when rectal temperature reached from 24`C to 35.5`C. Complete A-V block was managed with temporary external pacemaker with a pacing rate of 110/min. thru myocardial wire, and arterial blood pressure of 80/50 mmHg was maintained with Isuprel or Dopamine dripping under the CVP of 25-cm saline. Consciousness was recovered one hour after the operation when his blood pressure reached 100 /70 mmHg, but vital signs were not stable, and bleeding from the pericardial drainage and complete anuria were persisted until his heart could not capture the pacemaker impulse, and patient died of low output syndrome 320 min after the operation.
This is one case report of surgically treated partial atrioventricular canal. The 22 year-old male patient had no definitive history of frequent respiratory infection and cyanosis in his early childhood. Since his age of 7 years, dyspnea was manifested on exertion. First appearance of congestive heart failure was at his age of 16 years old. The physical examination revealed that the neck veins were distended and heaving of precordium. A thrill was palpable on the left 3rd-4th intercostal space extending from the sternal border toward the apex and Grade IV/VI systolic ejection murmur was audible on it. Neither cyanosis nor clubbing was noted. Liver was palpable about 5 finger breadths. Chest X-ray revealed increased pulmonary vascularity and severe cardiomegaly (C-T ratio = 74%). EKG revealed LAD, clockwise rotation, LVH and trifascicular block. Echocardiogram showed paradoxical ventricular septal movement, narrowed left ventricular outflow tract and abnormal diastolic movement of the anterior leaflet of mitral valve. Right heart catheterization resulted in large left to right shunt (Qp : Qs = 5.7: 1), ASD and moderate pulfllonary hypertension. Finally, left ventriculogram revealed typical goose neck appearance of left ventrlcalar outflow tract. On Oct. 10, 1980, open heart surgery was performed. Operative findings were: 1. Large primum defect ($6{\times}5$ Cm in diameter) 2. Cleft on the anterior leaflet of mitral valve. 3. The upper portion of ventricular septum was descent but no interventricular communication. 4. Downward attachment of the atrioventricular valves on the ventricular muscular septum. 5. Medium sized secumdum defect ($2{\times}1$ Cm in diameter). The cleft was repaired with 4 interrupted sutures. The primum defect was closed with Teflon patch and the secundum defect was closed with direct suture closure. Postoperatively atrial flutter-fibrillation in EKG and Grade U/VI apical systolic murmur were found. The postoperative course was uneventful and discharged on 29th postoperative day in good general conditions.
Background: We retrospectively evaluated the clinical results of surgically managing patients with Ebstein's anomaly. Material and Method: Between Feb. f 984 and June 2006, 50 patients who underwent surgical treatment for Ebstein's anomaly at Yonsei Cardiovascular Center were retrospectively reviewed. The mean age of the patients was 26.9 years and 19 patients were male, Associated anomalies included atrial septal defect (33), patent ductus arteriosus (2), ventricular septal defect (1), and pulmonary stenosis (4), and 90%, (45/50) of the patients had more than a moderate degree of tricuspid regurgitation. Carpentier type A was present in 6 patients, type B in 26, type C in 14 and type D in 4. Ten patients were associated with WPW syndrome. Conservative surgery was possible in 31 patients (tricuspid annuloplasty, plication of the atrialized RV), Fontan's operation was peformed in 4 patients, tricuspid valve replacement was done in 12 and palliative surgery was done in 2 patients. Thirteen patients were associated with hi-directional cavopulmonary shunt (BCPS: one and a half ventricular repairs): 10 patients with WPW syndrome and 4 patients with atrial fibrillation underwent concomitant ablation. Result: The postoperative median NYHA functional class $(3{\rightarrow}1)$ and the mean cardio-thoracic ratio $(0.65{\rightarrow}0.59)$ were decreased significantly (p<0.001, p=0.014). The mean oxygen saturation $(86.6{\rightarrow}94.1%)$, and median TR grade $(4{\rightarrow}1)$ were also significantly improved (p=0.004, p<0.001). For comparison of BCPS and conservative surgery, the preoperative right ventricular pressure (33.0 vs. 41.3 mmHg), the ICU stay (2.80 vs. 1.89 days), the hospital say (10.6 vs. 16.8 days), and the left ventricular ejection fraction (64.3 vs. 72.8%) were statistically different. Postoperative mortality occurred in 3 patients (6%) due to biventricular failure in 2 patients and sepsis in the other patient. The mean follow up duration was 101.5 months, and one patient died of Fontan failure and 6 patients required reoperation (bioprosthetic degenerative change (2) and Fontan conversion (4)). The overall survival rate at 10 years was 90.2%, the freedom from reoperation rate and rate of cardiac related events were 78.9% and 49.2%, respectively. Conclusion: Surgical management of Ebstein's anomaly can be performed safely, and the associated BCPS may be helpful for high-risk patients. Adequate application of surgical management may increase the long-term survival with a reduced rate of reoperation.
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