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Objective: To present an accurate prenatal diagnosis of coarctation of the aorta with ventricular septal defect and to illustrate how early diagnosis in prenatal period with proper referral and counseling can optimize management. Case report: A case with coarctation of the aorta with ventricle septal defect was found to have an abnormal three vessel view at 12 weeks, and with close follow-ups, coarctation of the aorta with ventricle septal defect was diagnosed at 24 weeks. Following the support from a multidisciplinary team that provided counseling, diagnosis, and follow-ups, the pregnant woman decided to continue with the pregnancy and had a vaginal delivery at a medical center. The newborn made an uneventful recovery after undergoing cardiac surgery on day 9. Conclusion: The case demonstrates the role a fetal medicine team plays in diagnosing, supporting, and seamlessly transferring the congenital heart disease case from the first line obstetrician to the cardiac surgeon. A multi-disciplinary team approach was able to lead to improved perinatal outcome of the congenital heart disease case. Keywords: Aorta, Fetal, Prenatal, Ultrasound, VSD

The Lon AAA+ protease (LonA) plays important roles in protein homeostasis and regulation of diverse biological processes. LonA behaves as a homomeric hexamer in the presence of magnesium (Mg(2+)) and performs ATP-dependent proteolysis. However, it is also found that LonA can carry out Mg(2+)-dependent degradation of unfolded protein substrate in an ATP-independent manner. Here we show that in the presence of Mg(2+) LonA forms a non-secluded hexameric barrel with prominent openings, which explains why Mg(2+)-activated LonA can operate as a diffusion-based chambered protease to degrade unstructured protein and peptide substrates efficiently in the absence of ATP. A 1.85 Å crystal structure of Mg(2+)-activated protease domain reveals Mg(2+)-dependent remodeling of a substrate-binding loop and a potential metal-binding site near the Ser-Lys catalytic dyad, supported by biophysical binding assays and molecular dynamics simulations. Together, these findings reveal the specific roles of Mg(2+) in the molecular assembly and activation of LonA.

The aim of this study was to establish reference curves and formulas for aortic cross-sectional area in patients from infancy to young adulthood.Patients (aged 2 days to 18.1 years) who underwent electrocardiographically gated cardiac computed tomography between May 2004 and December 2011 were retrospectively examined. These patients were further divided into a group of normal controls (without aortic disease) and a group with coarctation of aorta. In the group of normal controls, the cross-sectional area of the aorta was measured at six locations: the sinotubular junction, distal ascending aorta, proximal arch, distal arch, aortic isthmus, and descending aorta (DAO). Interobserver and intraobserver variability, gender differences, the relationship between aortic cross-sectional areas and age, and the ratio to the DAO were also examined. The area ratio to the DAO was also examined in the group with coarctation of the aorta.A total of 65 patients and 365 measurable aortic segments were included in the analysis (55 normal controls and 10 patients with coarctation of aorta). Interobserver and intraobserver variability was limited (aside from measurements of the sinotubular junction). There were no gender differences in age and the cross-sectional areas of the different aortic segments. In the group of normal controls, the cross-sectional area of each aortic segment was highly correlated with age (all0.90, P.001). The reference curves and formulas for aortic cross-sectional area by age were also determined for further clinical use. In the normal controls, the95% confidence intervals of the ratios of aortic isthmus to DAO, distal arch to DAO, and proximal arch to DAO were approximately 0.6, 0.8, and 1.0, respectively. In addition, in the group with coarctation, all area ratios of aortic isthmus to DAO were0.6, which was significantly different from the group of normal controls (P.001). The area ratios of distal arch to DAO and proximal arch to DAO were also significantly different between two groups (P.001 for both).Measurement of aortic area was reproducible. The established reference curves and formulas and minimal area ratios were convenient for further clinical use.

Genetic syndromes, especially 22q11 deletion (del22q11) syndrome, are common in patients with pulmonary atresia and ventricular septal defect (PA-VSD), but their association with long-term outcomes varies. The purpose of this study was to evaluate the long-term outcome after complete repair of PA-VSD and to determine the impact of genetic syndromes.We reviewed our experience of 125 patients with PA-VSD who received primary or staged repair between 1978 and 2010. Evaluations for genetic syndromes included clinical features, cytogenetic analysis, and fluorescence in situ hybridization or multiplex ligation-dependent probe amplification.Genetic syndromes were documented in 26 patients (20.8%), including del22q11 in 16 patients, trisomy 21 in 2 patients, and other syndromes in 8 patients. The prevalence of hypoplastic pulmonary arteries was not significantly different between the syndromic and nonsyndromic groups. After 1,069 patient-years of follow-up, 20-year survival was 90% ± 6% in patients without syndromes and 14% ± 23% in patients with syndromes (p0.01). Multivariate analysis identified the presence of a genetic syndrome as an important risk factor for hospital and late mortality. Subgroup analysis showed that genetic syndromes other than del22q11 were associated with worse outcome. The rate of 10-year freedom from cardiac reintervention after repair was 53% ± 11%, with hypoplastic pulmonary arteries before repair as a major risk factor (p = 0.02).Genetic syndromes significantly affect survival after repair of PA-VSD, whereas genetic syndromes do not represent additional risk for reintervention. Repair is feasible in patients with syndromes, but suboptimal long-term outcome should be addressed when counseling parents.

Background Total anomalous pulmonary venous connection (TAPVC) is a rare congenital heart disease in which the connection between the pulmonary vein (PV) and left atrium needs to be surgically created. This study investigated the spectrum and outcome of a Taiwanese cohort. Methods Isolated TAPVC cases were identified from our institutional database between 1995 and 2009. We reviewed the medical chart and conducted telephone interviews with those lost to follow-up. Results There were 78 patients (52% male). The anomalous drainage sites were mainly supracardiac type (42.3%) and cardiac type (39.8%). Before operation, PV stenosis was found in 100% of infracardiac type, and in 69.7% of supracardiac type. Among the 75 patients undergoing operation, the surgical mortality was 9% (7/75). Perioperative arrhythmias (mainly of atrial origin) occurred in 35% of the patients. Of the 68 patients who survived the first operation, 28 (41%) developed pulmonary vein restenosis. Half of them progressed to severe PV stenosis, which required reintervention or resulted in mortality. Preoperative PV stenosis was the most significant predictor for postoperative PV restenosis and PV re-intervention. For the cohort, the 1-year and 5-year survivals were 78.9% and 74.2%, respectively, and the predictor for survival was again preoperative PV stenosis. Conclusion The surgical mortality of isolated TAPVC is now low. Preoperative PV stenosis not only increased the risk of late PV restenosis and its reintervention, but also the overall mortality. The spectrum of PV drainage, per se, was not associated with worse outcome. PV restenosis remained the most important issue after correction of TAPVC.

Background Infected aneurysm of the suprarenal abdominal aorta is rare and can be fatal without surgery. There have been only sporadic case reports or small case series. We review our experience with 14 patients over 13 years. Methods Retrospective chart review. Results Between 1997 and 2010, 14 cases of infected aneurysms of the suprarenal abdominal aorta were treated at our hospital. There were 11 men with median age of 75.5 years (range, 35-88). Of the 13 pathogens isolated, the most common responsible microorganism was nontyphoid Salmonella in eight (62%) followed by Staphylococcus aureus in three (23%) and Streptococcus in two patients (15%). At the first admission, six patients had medical treatment alone, five patients underwent early open in situ graft repair, and three patients underwent hybrid endovascular stenting and visceral debranching. Of the six medically treated patients, two patients died in the hospital because of aneurysm rupture, and two patients underwent late open in situ graft repair because of aneurysm progression or rupture. Of the five open surgically treated patients, one patient died in the hospital because of nosocomial sepsis, and four patients were alive without major postoperative complication. Of the three endovascularly treated patients, one patient died in the hospital because of intestinal ischemia, one patient died 6 months later because of postoperative complication, and one patient was alive with complications of paraplegia, renal failure, and permanent dialysis. The aneurysm-related mortality rate was 33% (2/6) in medical treatment alone, 20% (1/5) in open in situ grafting, and 67% (2/3) in hybrid endovascular stenting. Conclusions Infected aneurysm of the suprarenal abdominal aorta was rare. Nontyphoid Salmonella was the most common responsible microorganism. Open in situ graft repair remained a preferred and durable treatment strategy.

article i nfo Objectives: Uncorrected congenital heart defects (CHD) with severe pulmonary hypertension (sPH, systolic pulmonary arteryN70% of systolic pressure) are usually considered inoperable. We are curious to know if some selected patients might benefit from palliative operation for those sPH with uncorrected CHD. Methods: Adults or adolescents with sPH associated with ventricular septal defect (VSD) with/without great artery anomalies were selected for pulmonary artery banding (PAB) to reduce sPH. The target pulmonary pressure was less than half of the systolic blood pressure after arch or great arteries reconstruction. Repeated catheterization was performed to evaluate the feasibility of defect closure. Results: Consecutively, 8 patients (age 26±9 years) received PAB as a palliative procedure in the past 8 years without mortality. The pre-PAB systolic pulmonary pressure was 119±9 mmHg. Additional PAB had been applied in 4 of them. All patients showed significant improvement in function class (III to I or II). The mean post-PAB pulmonary pressure decreased significantly (77.5±9.2 mmHg to 42.0±9.0 mmHg) and 6-minute walk test was also found to have great improvement (270±86 m to 414±49 m), but the saturation at rest did not show a difference. Three of them received corrective surgery to close defects over 3-5 years. Conclusion: For some selected adult sPH with uncorrected CHD, PAB can work as a palliative procedure to improve their functional class and even provide a chance of total repair.

Pulmonary regurgitation after repair of tetralogy of Fallot has always been an important issue for pediatric cardiac surgeons. Some of the patients may need pulmonary valve replacement in the future. Conventional prosthesis valves were seldom custom made for the pulmonary valve and were often inadequate to use because of variable age and size of these patients. Through evolution of techniques, we have developed a simple, efficient, and theoretically anatomic way of constructing trileaflet polytetrafluoroethylene valved conduit used for right ventricle outflow tract reconstruction. It was surprisingly straightforward, time efficient, and capable of being produced in various sizes.

Late cardiovascular complications after intervention for coarctation of the aorta (CoA) might be common. Such data, especially in Asian populations, are still limited. A total of 169 patients with CoA who survived balloon (n = 41) or surgical (n = 128) intervention from 1986 to 2004 were enrolled. The total follow-up was 1,776 patient-years, and the patient age at last follow-up was 14.7 +/- 8.5 years. Reintervention for recoarctation, systemic hypertension, and left ventricular outflow tract obstruction (LVOTO) was subsequently noted in 57 (34%), 36 (21.3%), and 24 (14.2%) patients, respectively, without significant differences between the balloon and surgical groups. The 20-year freedom from reintervention, systemic hypertension, and LVOTO rate was 52%, 78.6%, and 80.8% in the balloon group and 59%, 51%, and 81.9% in the surgical group, respectively. The age at CoA intervention and the aortic geometry after CoA intervention of gothic type were common risk factors for reintervention for recoarctation and late systemic hypertension. In contrast, the presence of bicuspid aortic valves and gothic arch geometry after CoA intervention increased the risk of LVOTO. Plasma renin/aldosterone activities were not elevated in those with or without systemic hypertension. In conclusion, the profile of reintervention for recoarctation and late systemic hypertension after CoA interventions in our Asian cohort with CoA was similar to that observed in white patients. Asian patients might have a lower risk of LVOTO.

Background Infected aneurysm of the aorta is almost always fatal without undergoing aortic resection. Medical treatment was attempted selectively in patients who were considered too high risk for surgery. We review our experience with 22 patients treated without undergoing aortic resection over 12 years. Methods Retrospective chart review. Results Between 1995 and 2007, 22 cases of infected aortic aneurysms treated without undergoing aortic resection during the first admission were included. There were 17 men with a median age of 76 years (range, 35 to 88 years). Of 18 pathogens isolated, the most common responsible microorganism was nontyphoid Salmonella in 11 followed by Staphylococcus aureus in five. The site of infection was thoracic in eight and abdominal in 14. The hospital mortality rate was 50%, and the aneurysm-related mortality rate after long-term follow-up was 59%. The event-free survival rate at one year was 32%. Of 11 patients with Salmonella infection, eight patients have lived beyond 30 days and six were event-free after one year. Of 11 patients with non-Salmonella, four patients have lived beyond 30 days and only one was event-free after one year. The overall aneurysm-related mortality rate was 36% in Salmonella infected patients and 82% in non-Salmonella infected patients. Conclusion Clinical results of medical treatment using current antibiotics in patients with infected aortic aneurysm were poor. Traditional surgical excision of infected aortic aneurysms with revascularization remains the gold standard and should be attempted except in high risk patients.

Background/Purpose: The optimal management of interrupted aortic arch (IAA) with ventricular septal defect is controversial. The aim of this study was to evaluate our 12 years of experience of surgical outcomes of one-stage and rapid two-stage total corrections of IAA with ventricular septal defect and to delineate the management of postoperative complications. Methods: We reviewed the medical charts of all patients from 1996 to 2007. Neonates with inherent complex anatomy were excluded. There were 26 patients in our series, with 11 type A and 15 type B IAA. Nineteen patients received one-stage repair and seven patients received rapid two-stage total correction. Rapid twostage total correction was defined as two operations performed within 1 week. Results: The 1-month postoperative survival rate was 81% (21/26), with 79% (15/19) in the one-stage group, and 86% (6/7) in the rapid two-stage group. The rapid two-stage group had a shorter cardiopulmonary bypass time (160.1 ± 58.4 vs. 216.8 ± 73.7 minutes, p = 0.054) and aortic cross clamp (AXC) time (65.6 ± 24.4 vs. 91.8 ± 22.4 minutes, p = 0.022) than the one-stage group. Postoperative left ventricular outflow tract obstruction (LVOTO) and aortic arch restenosis were common in survivors, with frequencies of 48% (10/21) and 71% (15/21) respectively. Within the postoperative arch stenosis subgroup, nine out of 15 patients received balloon angioplasties, which proved effective after only one treatment. The overall late survival rate was 73% (19/26), with 68% (13/19) in the one-stage group, and 86% (6/7) in the rapid two-stage group. Conclusion: The outcome of rapid two-stage repair is comparable to that of one-stage repair. Rapid twostage repair has the advantages of significantly shorter cardiopulmonary bypass duration and AXC time, and avoids deep hypothermic circulatory arrest. LVOTO remains an unresolved issue, and postoperative aortic arch restenosis can be dilated effectively by percutaneous balloon angioplasty. [J Formos Med Assoc 2008;107(11):876–884]

Objectives To find a noninvasive method to detect coarctation of the aorta (CoA) in the presence of a patent ductus arteriosus (PDA) in neonates. Study design From 1994 to 1998, 36 neonates with CoA and PDA confirmed by surgery or cardiac catheterization were studied; another 19 neonates with isolated PDA served as control patients. The prospective study was conducted from 2001 to 2002 on 162 neonates. Results Among the 36 neonates in the CoA group, 14 patients (39%) had blood pressure discrepancy, 26 patients (72%) had a visualized posterior shelf by echocardiogram, and the ratio of isthmus/descending aorta diameters (I/D ratio) was below 0.64 in 32 patients (89%). None of the control patients had these features. A diagnostic approach was subsequently proposed, according to which a neonate with PDA who fulfilled any of the above features was diagnosed as CoA plus PDA. In the prospective study, the sensitivity and positive predictive values of this method were both 91.7%, whereas the specificity and negative predictive values were both 99.3%. Conclusions Echocardiographic measurements of I/D ratio along with the delineation of posterior shelf and a BP discrepancy can satisfactorily identify CoA in the presence of PDA in neonates.

This study was undertaken to delineate tracheobronchial anomalies associated with congenital heart disease. From June 1995 to December 2000, 1,245 children with congenital heart disease underwent cardiac electron beam computed tomography with 3-dimensional reconstruction on an independent workstation. Tracheobronchial anomalies are strongly associated with congenital heart disease and accompanying tracheal stenosis is not uncommon. With 3-dimensional reconstruction, electron beam computed tomography provided excellent anatomic definition of the central tracheobronchial abnormalities.

The structures of the MAP kinase p38 in complex with docking site peptides containing a φ A -X-φ B motif, derived from substrate MEF2A and activating enzyme MKK3b, have been solved. The peptides bind to the same site in the C-terminal domain of the kinase, which is both outside the active site and distinct from the "CD" domain previously implicated in docking site interactions. Mutational analysis on the interaction of p38 with the docking sites supports the crystallographic models and has uncovered two novel residues on the docking groove that are critical for binding. The two peptides induce similar large conformational changes local to the peptide binding groove. The peptides also induce unexpected and different conformational changes in the active site, as well as structural disorder in the phosphorylation lip.

This study reported our experience of bedside patent ductus arteriosus (PDA) ligation for prematurity in the neonatal intensive care unit (NICU). Between April 1992 and March 2006, 41 very-low-birth-weight premature infants underwent PDA ligation in the NICU. There were 18 male and 23 female infants. The mean gestational age and birth weight were 26.9 weeks and 900.9 g, respectively. Preoperatively, 25 infants were ventilator-dependent. After operation, there were five deaths caused by complications of prematurity. Surgical complications occurred in four and all recovered well after treatment. Twenty preoperatively intubated babies survived and were extubated at 21.6 +/- 12.7 days postoperatively. In conclusion, bedside PDA ligation in the NICU is safe and effective. It can avoid transportation of critically ill, very small infants. We suggest surgical closure as the primary treatment in very-low-birth-weight infants who are ventilator-dependent to avoid the possible complications of indomethacin and prolonged intubation.

Patients paced for congenital complete atrioventricular block are at risk of dilated cardiomyopathy. We report such an infant in whom the dilated cardiomyopathy resolved after adjusting the ventricular pacing range. The infant received an epicardial pacemaker soon after birth for the congenital complete atrioventricular block. He developed dilated cardiomyopathy 5 months after right ventricular pacing at 140 bpm, which is the mean physiological heart rate of the newborn and young infant. The cardiac function recovered gradually (left ventricular ejection fraction from 20% to 74%) after lowering the ventricular pacing rate to a range from 90 to 120 bpm. We suggest that pacing at heart rates that are within the mean physiological range may still be detrimental in young infants. Adjusting the pacing range may, at least in part, help to restore the ventricular function.

Patients receive methylprednisolone pulse therapy (MPT) when acute cardiac rejection occurs. Although the regimen is generally safe and effective, severe complications occasionally develop. From 1997 to 2007, there were 210 cardiac transplantation procedures performed at our hospital. Among these patients, there were 23 episodes of acute rejection treated with MPT, 10 mg/kg/d. Two patients in our series had cardiac arrest within 36 hours after initiating the therapy. Endomyocardial biopsy specimens showed International Society for Heart Transplantation grade 1B allograft rejection in both cases. Emergent intubation and cardiopulmonary resuscitation were performed. Venoarterial extracorporeal membrane oxygenation (ECMO) was used to rescue the patients. The cardiac function in both patients recovered gradually. Left ventricular ejection fraction increased from 16.2% to 47% in one patient and from 27% to 30% in the other patient. One patient was successfully weaned from ECMO after 2 days of support. The other patient was discharged against medical advice because of hypoxia-related brain death after 3 days. Both patients had a history of tachyarrhythmias before initiation of MPT. Although the relationship between mechanisms of cardiac arrest and MPT is uncertain, the risk of cardiac arrest cannot be overlooked when initiating MPT, especially in patients with a history of tachyarrhythmia. Meanwhile, ECMO can serve as a rescue method if cardiac arrest occurs.

Background: The most common type of left ventricular-to-right atrial shunts are those associated with perimembranous ventricular septal defect when the defects diminish in size via aneurysmal transformation. This study is to characterize the echocardiographic features and to determine the possible mechanisms. Methods and results: From January 1986 to December 1992, of 930 consecutive patients with isolated perimembranous ventricular septal defect, 692 showed evidence of aneurysmal transformation. Excluding those with subaortic ridge, echocardiographic analysis was based on 664 of them. Of these, 94 patients had left ventricular-to-right atrial shunts, 115 had their defects spontaneously closed and in 455 only interventricular shunt persisted. Four types of echocardiographic findings featured in the aneurysmal transformation process: type A, both the anterior and septal leaflets of tricuspid valve contributed to the process; type B was similar to type A, but the arc-like structure from the anterior leaflet is much less evident; in type C, only the septal leaflet, and in type D, other adjacent tissues, contribute to the aneurysmal transformation. Type A morphology was closely associated with the development of left ventricular-to-right atrial shunt while types C and D were most commonly seen in those spontaneously closed defects and those with only interventricular shunt. The vegetations of infective endocarditis were located at the atrial side of the tricuspid valve in patients with left ventricular-to-right atrial shunts, while they were in the right ventricle in those with only interventricular shunt. Conclusion: The morphology of the aneurysmal transformation in perimembranous ventricular septal defect can be characterized by echocardiograms. Although the septal leaflet of the tricuspid valve is usually involved in this process, it is the incorporation of the anterior leaflet that predisposes to the development of left ventricular-to-right atrial shunts.

Heart transplantation (HTx) is a treatment for end-stage heart failure or a complex or inoperable congenital defect. The long-term survival and the adequate donor to recipient body weight (D/R BW) ratio remain to be determined. From March 1995 to May 2004, 14 children (6 months-16 years of age) underwent HTx due to underlying diseases of idiopathic dilated cardiomyopathy (n = 10; 71.4%), congenital heart disease (n = 3; 21.4%), and Kawasaki disease (n = 1; 7.1%). Donor-recipient body weight ratio ranged from 0.89 to 3.9. Big heart syndrome was present in one patient when D/R BW ratio was more than 3. Actuarial survival was 92.9% at 5 years after transplantation. Only the one patient who had Kawasaki disease died due to early primary graft failure. HTx is a feasible method with good long-term survival rates for end-stage heart failure or for complex or inoperable congenital defects. After careful pretransplant evaluation, a high D/R BW ratio (more than 3) is acceptable.

For a patient featuring a filling defect in the pulmonary artery, pulmonary emboli is typically cited as the most frequent diagnosis; however, although typically rare, a tumor in the pulmonary artery should be included in the differential diagnosis. Herein we report on a patient for whom a primary myxoma originated in the left pulmonary artery and discuss the possible hint to make the differential diagnosis.

PKB/Akt reveals a major role for helix C in the regulation of activity in the first structure of an AGC family protein kinase in its low-activity form.

An integral part of the heart with an atrioventricular septal defect and a Rastelli type A valve configuration is left ventricular outflow tract obstruction. Current surgical techniques do not cater to this particular anatomic facet, and left ventricular outflow tract obstruction has been reported as a postoperative problem. The present study has focused on the surgical anatomy of the mode of attachment of the left superior atrioventricular valve and its relationship to the left ventricular outflow tract It appeared that the anchoring of the superior leaflet was a major factor in limiting the excursions of the superior leaflet, contributing also to the tightness of the subaortic left ventricular outflow channel. On that basis a surgical repair is proposed in which the greater part of the tightly bound superior leaflet is detached from the septal crest, so that the left ventricular outflow tract is widened.