Association of atrial septal defect and Brugada syndrome in a young woman.

We report a 25-year-old woman who was diagnosed with atrial septal defect (ASD). An ECG showed only first-degree atrioventricular block and incomplete right bundle branch block. One day after the percutaneous ASD closure, she had a slight fever and an ECG showed a type 1 Brugada pattern. ECG characteristics of ASD are similar to those of a Brugada ECG. This case is rare combination of Brugada syndrome with ASD.

Electrical Low-Frequency 1/fγ Noise Due to Surface Diffusion of Scatterers on an Ultra-low-Noise Graphene Platform.

Low-frequency 1/f γ noise is ubiquitous, even in high-end electronic devices. Recently, it was found that adsorbed O2 molecules provide the dominant contribution to flux noise in superconducting quantum interference devices. To clarify the basic principles of such adsorbate noise, we have investigated low-frequency noise, while the mobility of surface adsorbates is varied by temperature. We measured low-frequency current noise in suspended monolayer graphene Corbino samples under the influence of adsorbed Ne atoms. Owing to the extremely small intrinsic noise of suspended graphene, we could resolve a combination of 1/f γ and Lorentzian noise induced by the presence of Ne. We find that the 1/f γ noise is caused by surface diffusion of Ne atoms and by temporary formation of few-Ne-atom clusters. Our results support the idea that clustering dynamics of defects is relevant for understanding of 1/f noise in metallic systems.

Perioperative changes in platelet count in patients with atrial septal defect.

BACKGROUND: Platelet count and function change following atrial septal defect (ASD) closure with the Amplatzer septal occluder (ASO). However, the clinical significance of these changes remains unclear. We examined changes in platelet count and mean platelet volume (MPV) before and after ASO placement, and the association between platelet count, MPV and various factors. We discussed the mechanism and clinical significance of changes in platelet count and MPV. METHODS: We evaluated 109 patients with ASD who underwent ASO placement, and we performed various analyses of platelet count and MPV. RESULTS: Younger patients typically had higher platelet counts and lower MPV on admission. They also had large ASDs relative to their body constitution; larger devices were therefore used. Rates of change in platelet count were higher in younger patients. There were no significant associations between platelet count or MPV before placement and mean pulmonary artery pressure, and Qp/Qs, and between the number of thrombocytopenia and presence or absence of headache or residual ASD. Platelet counts decreased on average by 21.3% for the first 3 days after ASO placement. One month after placement, platelet counts were slightly improved but remained lower than before placement. Conversely, MPV increased significantly after ASO placement and remained high a month after placement. The ASO size was the most influential factor in platelet count reduction after ASD closure by ASO. CONCLUSIONS: One month after ASO placement, platelet counts decreased and MPVs continued to increase, suggesting that platelet consumption and new production were still occurring a month after placement.

Transcarotid balloon aortic valvuloplasty for critical aortic stenosis in an infant weighing 890 g.

We report the smallest case of the balloon aortic valvuloplasty via a carotid artery. A baby boy weighing 890 g suffered from a severe aortic stenosis. Balloon aortic valvuloplasty using a TMP-Ped 4-mm balloon catheter succeeded in resolving severe aortic stenosis without any complications. Balloon aortic valvuloplasty via a carotid artery can be a first-line treatment even for extremely-low-birth-weight infants.

Intractable Back Pain After Coil Embolization of Giant Veno-Venous Collaterals in a Patient With Fontan Circulation.

Veno-venous collaterals are sometimes seen in patients after the Fontan procedure. A 28-year-old female with tricuspid atresia who underwent the Fontan procedure had oxygen desaturation due to a giant veno-venous collateral. Coil embolization was performed for the collateral. After the procedure, she complained of severe back pain. Anti-inflammatory analgesics and steroids were not effective, although carbamazepine promptly relieved the intractable pain. Treatment-related pain after coil embolization for veno-venous collaterals in patients with Fontan physiology is quite rare, although cardiologists must recognize a critical condition to be differentiated from vascular occlusion.

Siblings with Idiopathic Left Atrial Appendage Ostial Stenosis and Cor Triatriatum.

Isolated left atrial appendage (LAA) ostial stenosis is a very rare entity found coincidentally in adults by transesophageal echocardiography. A 3-month-old healthy infant was suspected as having cor triatriatum. His brother had a history of surgical treatment of cor triatriatum. A cardiac catheterization revealed a narrowed ostium of the LAA and confirmed the echocardiographic diagnosis of isolated LAA ostial stenosis. This is the first pediatric case of idiopathic LAA ostial stenosis. The siblings called our attention to the differential diagnosis and the etiopathogenesis between LAA ostial stenosis and cor triatriatum.

Cellulitis-Like Rash Associated with Kawasaki Disease.

We present the case of a 5-year-old-boy who developed a fever and cellulitis-like groin rash 5 days before developing conjunctivitis and 6 to 7 days before other typical signs of Kawasaki disease (KD) appeared. The cellulitis failed to respond to antibiotics and no pathogens were isolated. His fever and clinical signs resolved with intravenous immunoglobulin and high-dose aspirin after discontinuation of antibiotics. Nonbacterial cellulitis is a rare presenting sign of KD, but in the appropriate clinical setting and population, a diagnosis of KD should be considered when cellulitis and fever fail to respond to an appropriate antibiotic regimen and no pathogen can be isolated.

A Logical Method of Selecting an Approach for Amplatzer Septal Occluder Implantation: Using Transesophageal Echocardiography to Reduce Procedure Durations and Avoid Complications.

Percutaneous closure of atrial septal defects using an Amplatzer Septal Occluder (ASO) has recently become the procedure of first choice. However, when ASO deployment is difficult, procedures may be prolonged and complications may occur. We investigated a method for identifying cases in which ASO deployment would be difficult. After retrospectively identifying 70 patients (age: 4.1-70.4 years; body weight: 15.6-77.3 kg) who underwent atrial septal defect closure using an ASO in 2007 or later, we classified them into three groups: Group A, implantation by a conventional approach; Group B, implantation by a right upper pulmonary vein approach, and Group C,. change from a conventional to a right upper pulmonary vein approach. Characteristics of the groups were compared. Individually, none of the investigated characteristics was suitable for identifying difficult cases. Furthermore, we observed no consistent trends between aortic rim deficiency and ASO diameter, or between SG/IAS angle, which is the angle formed by the super stiff guidewire (SG) and the intra-atrial septum (IAS). However, the ASO diameter divided by the diameter of the left atrium (ASO/LA) correlated with the SG/IAS angle in Group C. Using this correlation, ASO implantation is predicted to be difficult in patients with an ASO/LA (%) ratio exceeding the (SG/IAS angle) x 1.44 + 48.1, which represents the 95th percentile of Group C. Graphing the SG/IAS angle and the ASO/LA ratio can identify cases in which ASO implantation may be difficult. We consider this method of selecting an approach to be extremely useful for avoiding various risks.

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.

Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital hypertrichosis, and cardiomegaly. Some affected individuals show bone undermodeling of variable severity. Recent investigations revealed that the disorder is caused by a mutation in ABCC9, encoding a regulatory SUR2 subunit of an ATP-sensitive potassium channel mainly expressed in cardiac and skeletal muscle as well as vascular smooth muscle. We report here on a Japanese family with this syndrome. An affected boy and his father had a novel missense mutation in ABCC9. Each patient had a coarse face and hypertrichosis. However, cardiomegaly was seen only in the boy, and macrosomia only in the father. Skeletal changes were not evident in either patient. Craniosynostosis in the boy and the development of aortic aneurysm in the father are previously undescribed associations with Cantu syndrome.

[Cardiac and extracardiac complications in Kawasaki disease].

In terms of frequency and prognosis, discussions of the complications of Kawasaki disease have focused on coronary artery aneurysms and stenosis. However, as revealed by autopsy findings, medium and small muscular arteries in various organs could be injured in patients with Kawasaki disease, leading to the development of a variety of complications. Accurate diagnosis of Kawasaki disease can be especially difficult when incomplete Kawasaki disease is accompanied by rare complications involving the central nervous system, digestive system, and other systems in the body, which leads to delay in treatment and subsequent development of coronary artery aneurysms and delayed improvement of the existing complications. Doctors who treat Kawasaki disease should be familiar with the rare but important complications of Kawasaki disease.

Kawasaki disease complicated with reversible splenial lesion and acute myocarditis.

Kawasaki disease, a systemic vasculitis of unknown etiology, develops frequently in infants and demonstrates a variety of clinical symptoms during the disease course. The most important complication, coronary artery lesions, is found in 15-25% of untreated patients. Meanwhile, acute myocarditis, another complication that can occur during the acute phase of severe systemic vasculitis, has been found in more than 50% of affected individuals when asymptomatic cases are included. However, cases that require treatment are rare as reported by Yoshikawa et al. (Circ J 70:202-205, 2006). As for neural complications, aseptic meningitis is well known, but it is extremely rare for these patients to develop encephalitis or encephalopathy as reported by Imai et al. (Jpn Soc Emerg Pediatr 8:50-55, 2009). Recently reported magnetic resonance images (MRIs) have shown reversible lesions in the median splenium of patients complicated with encephalitis or encephalopathy. Reversible lesions have also been observed after the administration of an antiepileptic agent, drastic weight loss, and development of metabolic abnormalities as reported by Massimo et al. (Neuroradiology 49:541-544, 2007) and Tada et al. (Neurology 63:1854-1858, 2004). Aggressive therapy for such lesions is not considered necessary because most disappear without neurologic aftereffects. However, the clinical significance and pathogenesis of the condition remain largely unknown. We present the first known report of a Kawasaki disease case complicated with acute myocarditis and mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). These findings may be valuable for the diagnosis and treatment of affected patients.

Importance of blood pressure control in Kawasaki disease with expanded multiple giant coronary aneurysms with a 32 mm maximum diameter: a case report.

BACKGROUND: Ruptured coronary artery aneurysm is rare, but the most serious complications of an acute phase of Kawasaki disease (KD) with giant coronary artery aneurysm (GCAA). Progressive or super GCAA, which rapidly dilates and continue to increase over a diameter of 10 mm, are more susceptible to rupture. CASE SUMMARY: We report the case of a 6-year-old boy with KD who had multiple super GCAAs with a high risk of GCAA rupture. On admission to our hospital, he presented with fever, chest pain, and Stage II hypertension. Echocardiographic Z-scores adjusted for body surface area were used for measurements. The coronary artery diameter of segment 1 was 24.3 mm with a Z-score of 20.8; the diameter of segment 3 was 24.4 mm; the diameter of the left anterior descending branch was 32.6 mm with a Z-score of 20.1. The super GCAAs showed a tendency to expand compared to the latest echocardiography, and thrombus formation was observed in the super GCAA of segment 3. The patient was treated with anti-inflammatory therapy, antithrombotic therapy, and antihypertensive therapy with continuous arterial pressure monitoring with the goal of not exceeding the 5th percentile of the normal standard during the period when there was a risk of progressive coronary aneurysm expansion. He was discharged without any neurological complications. DISCUSSION: We speculated that the patient's hypertension was the cause of an expanding coronary artery aneurysm. In conclusion, KD patients with super GCAA may benefit from aggressive blood pressure control with continuous arterial pressure monitoring.

Preoperative management for tricuspid regurgitation in hypoplastic left heart syndrome.

BACKGROUND: Tricuspid regurgitation (TR) is an important finding in hypoplastic left heart syndrome (HLHS). The aim of the present study was to investigate changes in the degree of TR after the preoperative management of HLHS with mechanical ventilation, and whether the improvement of TR under preoperative management would affect the short-term prognosis of Norwood operation. METHODS: Clinical and echocardiographic data of 55 patients with HLHS who underwent preoperative echocardiography and management at Department of Pediatrics, Okayama University Graduate School of Medicine and Dentistry, were retrospectively reviewed. Preoperative management with mechanical ventilation was performed in 31 of these patients. Based on echocardiography the 55 patients were divided into a trivial-mild TR group (group A) and a moderate-severe TR group (group B). RESULTS: After preoperative management, TR improved in six of the 31 patients and was unchanged in 25; in five of the nine group B patients, TR before management improved to the level of group A after management. In-hospital deaths after surgery included 17 of the 48 patients in group A and five of the six in group B, but there was only one death in the five patients for whom TR improved from group B to group A level. CONCLUSION: Preoperative management of HLHS resulted in an improvement in the degree of TR. The short-term prognosis was better for the patients in group A than those in group B, and so preoperative management is useful for HLHS patients, especially those with moderate or severe TR at admission, with the exception of severe dysplasia of tricuspid valve.

Double vascular ring: a case report of double aortic arch and concurrent pulmonary artery sling.

BACKGROUND: Double aortic arch (DAA) and pulmonary artery sling (PAS) are vascular ring formations that present in neonates and infants with symptoms of respiratory stenosis. CASE SUMMARY: The patient was a girl with suspected ventricular septal defect (VSD), right aortic arch (AA), left patent ductus arteriosus, and bilateral superior vena cava (SVC) on foetal echography in the first day of life. The girl was delivered at 40 weeks and 4 days of gestation. Ventricular septal defect, DAA, coarctation of the left AA, and bilateral SVC were diagnosed. Contrast-enhanced computed tomography at Day 16 revealed PAS with concurrent anomalous tracheal branching in addition to DAA. The right A2 segmental artery, which supplies the right upper pulmonary artery, showed abnormal branching from the left pulmonary artery (LPA). At 3 months of age, VSD patching, left AA resection distal to the root of the left subclavian artery, arterial ligament dissection, and LPA replacement were performed. DISCUSSION: Pulmonary artery sling coexists with anomalous branching of the trachea and abnormal branching of the right pulmonary artery (RPA). Our patient had an extremely rare case of DAA concurrent with PAS and presented with anomalous tracheal and RPA branching. We were concerned that increased pulmonary blood flow caused by the VSD would exacerbate tracheal displacement. Radical surgery at 3 months of age resulted in good postoperative progress.

A Case of Kawasaki Disease Accompanied by Encephalitis and Several Kinds of Arrhythmia during the Acute Phase.

Although central nervous system complications occasionally accompany during the acute phase of Kawasaki disease, clinically problematic arrhythmia is quite rare. We report a case accompanied by encephalitis and several kinds of problematic arrhythmia. Following the diagnosis of Taussig-Bing anomaly and coarctation of the aorta, the patient underwent aortic arch reconstruction, an arterial switch operation, and ventricular septal defect closure. No significant arrhythmias were observed. At the age of 5 years, the patient presented with a fever, rash, conjunctival hyperemia, and redness of the lips and fingertips. He was subsequently diagnosed with Kawasaki disease. The patient also presented with disorientation, and electroencephalography revealed overall slow-wave activity, indicating encephalitis. The patient received high-dose immunoglobulin and steroid pulse therapy. Sinus arrest was detected on day 10, and an atrial flutter with a 2 : 1 to 4 : 1 atrioventricular conduction block occurred on day 20. Although cardioversion succeeded in alleviating the atrial flatter, the patient experienced significant sinus arrest. The sinus arrest was alleviated 3 days later. Kawasaki disease-induced vasculitis and the arterial switch operation may both have influenced the sinus node dysfunction. Although sinus node function recovered, the possibility of progression into the sinus node dysfunction in the future should be considered.

Emergence and Characterization of Acute Coronary Syndrome in Adults After Confirmed or Missed History of Kawasaki Disease in Japan: A Japanese Nationwide Survey.

Background: Acute coronary syndrome (ACS), which is emerging in adults long after confirmed (followed-up or lost-to-follow), or missed Kawasaki disease (KD), is poorly characterized. Methods and Results: A Japanese retrospective nationwide hospital-based questionnaire survey of ACS during 2000-09 was conducted to characterize such patients. Among a total of 67 patients (median age 35, male 76%) recruited, low conventional coronary risks (≤1/6) was noted in 75%, a diagnosis of ST-elevation and myocardial infarction or cardiac arrest in 66%, medication before ACS in 22% (warfarin in 4%), and no prior history of acute myocardial infarction in 94%. One-month mortality was 19%. KD diagnosis was made in 32 during acute illness (Group A), in which 17 were lost to follow, and retrospectively in the other 35 from coronary imaging at ACS (Group B). Group A developed ACS at lower coronary risks (≤2/5 in 87 vs. 65% in group B, p = 0.043) at a younger age (26.5 vs. 40 yo, p < 0.001). In group A, followed-up patients developed ACS under medication before ACS (87 vs. 0% in lost-to-follow patients, p < 0.001) for giant aneurysm in culprit lesions (69 vs. 29%, p = 0.030). One-month mortality was comparable between groups A and B, and between patients followed-up and lost-to-follow in group A. The culprit lesion in group A was characterized by the association of an aneurysm ≥6 mm in acute KD (100%), lack of significant stenosis (61%) or giant aneurysm (50%) in the long-term (median interval 16 y), and the presence of intravascular ultrasound-derived calcification at ACS (86%). Conclusions: The present retrospective nationwide questionnaire survey demonstrated nationwide emergence of initial ACS in young adults at low coronary risks, who are followed-up or lost-to-follow after confirmed KD and initial coronary aneurysms ≥6 mm.

Two new cases of pure 1q terminal deletion presenting with brain malformations.

We describe two new cases of pure 1q terminal deletions. BAC FISH analysis precisely defined the size of deletions. The first is a girl with 10.3-Mb deletion showed typical features of 1q43 deletion as well as a simplified gyral pattern, which was rarely found in 1q43 deletion. The other boy also presented with most of 1q43 deletion features but several atypical symptoms were noted including hydrocephalus, adducted thumbs, and flexion restriction of proximal interphalangeal joints in left hand. A concomitant novel missense mutation in L1CAM was identified in addition to 11.5-Mb deletion. Reviewing all the cases of pure 1q terminal deletion in the literature suggests that it is a clinically recognizable syndrome.

Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism.

Patients with Mulibrey nanism (MUL) present with growth failure and multiple organ manifestations, and MUL is caused by mutations in TRIM37. In this article, we report on the first case series of Japanese patients with MUL who developed congestive heart failure due to constrictive pericarditis. Our case series suggests that early diagnosis and total pericardiectomy before adherence of the pericardium might provide clinical benefit and better prognosis for MUL.