Characteristics and long-term outcome for congenital left main coronary artery atresia.

The prevalence of congenital left main coronary artery atresia is very low. We report the characteristics and long-term outcomes of four children with left main coronary artery atresia. Three patients had heart murmurs due to mitral regurgitation at less than 1 year old. Their myocardial ischaemia worsened on exercise with aging. In the fourth patient, hypertrophic cardiomyopathy and Noonan syndrome were suspected at 1 year old. The development of communicating arteries between the conus branch and the left anterior descending artery was detected at 7 years old. The left main coronary artery atresia was confirmed by a selective coronary angiogram at 15 years old. Congenital left main coronary artery atresia could not be diagnosed by two-dimensional echocardiography; however, the left coronary arteries were small. Two patients underwent coronary artery bypass grafting of the left anterior descending artery using the left internal thoracic artery at 3 years and 6 years old, respectively. Two patients had an angioplasty with a cut back at the orifice of the left coronary artery at 2 years old and 17 years old, respectively. Two patients had no cardiac events without medication for more than 30 years after the operation. We must differentiate the diagnosis of left main coronary artery atresia in the small left coronary arteries with mitral regurgitation during the first year. Coronary artery revascularisation and mitral annuloplasty are needed. The long-term outcome of both coronary artery bypass grafting and angioplasty were good. The degree of mitral regurgitation after surgery may affect the prognosis.

Laryngeal herpes zoster with multiple symptoms in a child.

Herpes zoster caused by reactivation of latent varicella-zoster virus (VZV) usually develop in later adulthood. In the pediatric population, herpes zoster is unusual, and involvement of pharyngolaryngeal lesion and cranial nerves is rare. Here, we report a 14-year-old boy who was diagnosed with laryngeal herpes zoster (LHZ), and developed subsequent cranial nerve symptoms suspected of vagus neuropathy. This case provides additional evidence that children can develop LHZ and subsequent cranial nerve symptoms. LHZ should be considered if a pediatric patient with a history of varicella, has unilateral throat pain, with or without cranial nerve symptoms.

Soluble LR11 as a Novel Biomarker in Acute Kawasaki Disease.

BACKGROUND: Intimal smooth muscle cells (SMCs) play an important role in the vasculitis caused by Kawasaki disease (KD). Lipoprotein receptor 11 (LR11) is a member of the low-density lipoprotein receptor family, which is expressed markedly in intimal vascular SMCs and secreted in a soluble form (sLR11). sLR11 has been recently identified as a potential vascular lesion biomarker. sLR11 is reportedly elevated in patients with coronary artery lesions long after KD, but there is no description of sLR11 in acute KD. Our aim was to determine the sLR11 dynamics in acute KD and to assess its usefulness as a biomarker.Methods and Results: 106 acute KD patients and 18 age-matched afebrile controls were enrolled. KD patients were classified into the following subgroups: intravenous immunoglobulin (IVIG) responders (n=85) and non-responders (n=21). Serum sLR11 levels before IVIG therapy were higher in non-responders (median, 19.6 ng/mL; interquartile range [IQR], 13.0-24.9 ng/mL) than in controls (11.9 ng/mL, 10.4-14.9 ng/mL, P<0.01) or responders (14.3 ng/mL, 11.7-16.5 ng/mL, P<0.01). Using a cutoff of >17.5 ng/mL, non-responders to initial IVIG therapy were identified with 66.7% sensitivity and 78.8% specificity. CONCLUSIONS: sLR11 can reflect the state of acute KD and might be a biomarker for patient response to IVIG therapy.

Possible Coronary Sequelae of Kawasaki Disease in an Elderly Man.

Kawasaki disease (KD) is an acute self-limited syndrome that predominantly affects children. Coronary sequelae have been identified to be responsible for a small, but significant percentage of young adults who present with myocardial ischemia. In this study, we present a case of an elderly patient with possible coronary sequelae of KD. A 76-year-old man was referred to our outpatient department for silent myocardial ischemia. Axial images of coronary computed tomography showed multiple lumens in the proximal left anterior descending (LAD) artery. Coronary angiography demonstrated braid-like appearance in the proximal and distal segment of the LAD. Coronary intervention was successfully performed for the proximal LAD lesion using directional atherectomy (DCA) catheter. Microscopic examination of the DCA specimens showed the following histological features: tissues in densely hyalinized fibrosis with occasional microcalcification, or those containing a number of smooth muscle cells (SMCs) with myxoid extracellular matrix. There was paucity of cholesterin crystals and aggregation of foamy cells. In addition, scarcely any inflammatory cell filtration was identified. In the section of SMC-containing samples, formation of multiple re-canalized vessels embracing endothelial cells was confirmed. These histopathologic findings indicated that the present coronary artery lesion has a high possibility of very late cardiovascular sequelae caused by arteritis due to KD, rather than arteriosclerosis. This is the oldest adult case with coronary artery disease possibly resulting from KD sequelae. This case highlights that KD sequelae must be considered as a cause of coronary artery lesion even in older patients.

Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion.

Gitelman syndrome (GS) is caused by biallelic mutations in SLC12A3 as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. SLC12A3 included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as hemizygous. Consequently, GS was caused by the revealed SLC12A3 variant owing to chromosomal microdeletion.

Pericardial tamponade due to erosion of a Figulla Flex II device after closure of an atrial septal defect.

We present a case of an 8-year-old boy suffering from sudden-onset severe chest pain and cardiogenic shock due to cardiac tamponade caused by erosion of a Figulla Flex II device. His symptoms developed 4 days after transcatheter closure of an atrial septal defect. After emergent pericardiocentesis, surgery was performed to remove the device, close the atrial septal defect, and repair the laceration in the anterior-superior wall of the right atrium and the perforation on the aortic wall adjacent to the right atrial free wall perforation site. All surgical procedures were successful, and the patient was discharged without sequelae. Although there have been few reports on the erosion of this flexible device, a lethal complication can occur when the right-sided disc of the oversized device impinges perpendicularly on the aortic wall.

Blistering eruptions with tissue eosinophilia in a child with IgA vasculitis.

We present a child with bullous IgA vasculitis. Because skin biopsy showed epidermal vesicles with neutrophil infiltration and leukocytoclastic vasculitis in all layers of the dermis, with IgA deposits and tissue eosinophilia, extensive dermal infiltration of neutrophils may have led to both blistering eruptions and tissue eosinophilia in our patient.

Detection of early stage medullary thyroid carcinoma by measuring serum calcitonin using an electro chemiluminescence immuno-assay: A case report of a young Japanese woman with a high-risk RET mutation.

Medullary thyroid carcinoma (MTC) in multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder caused by the mutation of the RET proto-oncogene, that shows nearly complete penetration. The American Thyroid Association guidelines recommend prophylactic thyroidectomy for patients with high-risk RET mutations. However, in Japan, ethical and medical issues may preclude prophylactic treatment in young patients. Hence, an early diagnosis of MTC is necessary to ensure a favorable outcome. Here, we report the case of a young Japanese girl with a high-risk RET mutation, diagnosed with very early stage MTC using serum calcitonin (Ctn) values measured using an electro chemiluminescence immuno-assay (ECLIA). The Japanese girl with a family history of MEN2 had been followed at our hospital since she was 5-mo-old. RET analysis revealed that she displayed a Cys634Gly mutation. The patient underwent annual neck ultrasonography and calcium infusion testing. When she was 8-yr-old, the Ctn level, measured using ECLIA, dramatically increased with calcium stimulation, from a baseline of 11.3 pg/mL to 333 pg/mL. She subsequently underwent total thyroidectomy and was diagnosed with stage I MTC. Detecting early stage MTC by monitoring serum Ctn measured by ECLIA, may represent a useful strategy for patients with high-risk RET mutations.

Clinical utility of loop-mediated isothermal amplification for rapid diagnosis of Mycoplasma pneumoniae in children.

Loop-mediated isothermal amplification (LAMP) is a cost-effective and rapid method for identifying Mycoplasma pneumoniae (MP). We investigated the utility of the LAMP assay in diagnosing MP pneumonia among children in a clinical setting. In this prospective study, the cause of community-acquired pneumonia was evaluated in 111 patients for whom MP was the suspected pathogen. All participants were patients at a city hospital in Japan between April 2012 and September 2012. Throat swabs for the LAMP assay were obtained at admission, and paired serum samples to measure antibody titres to MP by particle agglutination were obtained at admission and during convalescence. Overall, 45 of 111 (41 %) patients had a fourfold or greater increase in MP titres and received a diagnosis of MP pneumonia. Among them, 43 (96 %) patients (median age, 9 years) were positive on the LAMP assay and had a fourfold or greater increase in MP titres. The median interval from fever onset to collection of throat swabs was 7 days (range, 4-10 days). As compared with paired serum titres, the LAMP assay enabled quicker diagnosis of MP (median interval, 13 vs. 7 days), thereby allowing early initiation of appropriate antimicrobial therapy.

Rhabdomyolysis associated with antimicrobial drug-resistant Mycoplasma pneumoniae.

We describe a case of rhabdomyolysis in a patient infected with antimicrobial drug-resistant Mycoplasma pneumoniae The patient's acute-phase serum levels of interleukin-18 and tumor necrosis factor-α were high, which suggests a pathogenic role for M. pneumoniae. In an era of increasing antimicrobial drug resistance, a system for rapidly identifying resistant M. pneumoniae would be beneficial.

Clinical implications of interleukin-18 levels in pediatric patients with Mycoplasma pneumoniae pneumonia.

The immunological pathogenesis of Mycoplasma pneumoniae pneumonia is known to involve several cytokines. The serum levels of interleukin-18 (IL-18) were examined using enzyme-linked immunosorbent assay in 23 pediatric patients (median age 6 years; range 4-13 years; 14 girls and 9 boys) with M. pneumoniae pneumonia admitted to our hospital. Serum levels of IL-18 ranged from 22 to 1808 pg/ml with a mean of 543 pg/ml. We started steroid therapy in two cases with IL-18 values greater than 1000 pg/ml without being aware of IL-18 levels. Examination of associations between IL-18 levels determined by enzyme-linked immunosorbent assay and a routine laboratory test showed that levels of lactate dehydrogenase (LDH) and IL-18 were significantly correlated. To determine the appropriateness of steroid administration in M. pneumoniae pneumonia patients, serum LDH should be examined. Patients with elevated levels of LDH are likely to have significantly elevated IL-18 values (≥1000 pg/ml) and thus can be candidates for steroid therapy.

Prophylactic cefdinir for pediatric cases of complicated urinary tract infection.

BACKGROUND: This study evaluated the effect of prophylactic cefdinir (3 mg/kg given once daily) for the prevention of recurrent and complicated urinary tract infections (UTI) in pediatric patients. METHODS: The study included 14 infants who were observed for at least 6 months following the first signs of infection (eight boys, six girls; mean age at admission [± SD]: 6.2 [± 7.4] months). Twelve patients had vesico-ureteric reflux (grade I, two; grade II, three; grade III, six; grade IV, one), and two patients had ureteropelvic junction stenosis. RESULTS: No patients discontinued medication due to diarrhea or other adverse drug reactions. The patients had a 6-month recurrence-free rate of 93% (13/14); only one patient had recurrent UTI. The mean urinary cefdinir concentration was 16.3 [± 11.7]µg/mL; there was considerable variability among individual measurements, even though the samples were collected at similar intervals after drug intake (mean 18.00 [± 2.63] h after dose). However, the lowest measured urinary cefdinir concentration (1.16 µg/mL) was sufficient to eradicate Escherichia coli, one of the most significant causes of UTI. Fecal cultures, obtained at monthly clinic visits during the observation period, indicated that the patients' E. coli strains were very sensitive to cefdinir. No patients were infected with Pseudomonas aeruginosa or other non-fermenting Gram-negative bacilli or fungi. CONCLUSIONS: These results show that cefdinir given 3 mg/kg once daily is very effective and safe for preventing recurrent complicated UTI in infants.

Pulmonary valve replacement in adult patients with a severely dilated right ventricle and refractory arrhythmias after repair of tetralogy of fallot.

BACKGROUND: Refractory arrhythmias caused by right ventricular (RV) volume overload resulting from pulmonary regurgitation are the main concern in adult patients after repair of tetralogy of Fallot (TOF). Early pulmonary valve replacement (PVR) may prevent irreversible RV dysfunction and refractory arrhythmias, so the present study evaluated the PVR outcomes in adult patients with a severely dilated RV (d-RV) and refractory arrhythmias after TOF repair. METHODS AND RESULTS: Three TOF patients with a d-RV and tachyarrhythmias underwent PVR between the ages of 28 and 38 years. All had a d-RV (RV end-diastolic volume index (RVEDVI) >200 ml/m(2)) with a polymorphic nonsustained ventricular tachycardia (NSVT). Atrial tachycardia (AT) was identified in 2 patients and they underwent radiofrequency catheter ablation. The arrhythmias in all 3 were refractory to antiarrhythmic drugs. One year after PVR, the RVEDVI, left ventricular ejection fraction, right atrial pressure, cardiac index, cardiothoracic ratio, brain natriuretic peptide levels, and peak VO(2) improved in all, but without normalization. During the 2.6-3.8 year follow-up, all experienced tachyarrhythmias (NSVT or AT), which were controlled with medication. CONCLUSIONS: PVR may be beneficial for refractory arrhythmias, even in TOF patients with a d-RV, but it is difficult to completely normalize the hemodynamics and resolve the arrhythmogenicity.

Evaluation of cardiac tumors in children by electron-beam computed tomography: rhabdomyoma and fibroma.

BACKGROUND: The most common cardiac tumors in young children are rhabdomyoma and fibroma, and prognosis depends on the tumor's characteristics. In the present study electron-beam computed tomography (EBT) was used to evaluate tumor characteristics and myocardial perfusion in 6 children with cardiac tumors. METHODS AND RESULTS: Five children had rhabdomyomas and 1 had a fibroma. In the precontrast study, the computed tomography numbers of rhabdomyomas were higher and those of the fibroma were slightly lower than those of the normal myocardium. In the early postcontrast study, the size, location, shape and number of the tumor were clearly detected, and in the late postcontrast study, the fibrous characteristics of the tumor were seen. The fibroma contained calcification and 2 rhabdomyomas contained a fat density spot. In the cine-mode study, both the tumor and ventricular wall motion could be simultaneously evaluated. There was a filling defect of the left ventricular myocardium on the early postcontrast scan of 1 child with a rhabdomyoma and dyskinetic wall motion at the same region in the cine-mode study. CONCLUSION: EBT was useful for evaluating tumor characteristics in children.

Usefulness of electron beam computed tomography for quantitative estimation of myocardial ischemia in patients.

BACKGROUND: The electron beam computed tomography (EBT) was used as non-invasive methods for estimating mycardial characteristics in patients after onset of Kawasaki disease. METHODS: All of the 22 coronary branches with localized stenosis (LS), and 22 branches without coronary artery lesion after Kawasaki disease were examined for changes of myocardial CT number. In this study, each myocardial region was divided into three parts (endocardial, central, epicardial parts) and the myocardium/lumen (M/L) ratio was calculated. RESULTS: The mean M/L ratio in the endocardial part of early image with LS was significantly lower than the ratios in the other parts of early images with LS (P = 0.0286, P = 0.0069, respectively). and only the mean M/L ratio in the endocardial part was significantly different on images from patients with LS and images from patients without LS (P = 0.0296). Inverse correlations were found in the LS group between coronary artery stenosis rate determined by coronary angiography and M/L ratio in the endocardial part on early images (P = 0.0018, r = -0.614, y = 0.56 -0.605x). CONCLUSIONS: It was possible to quantitatively evalutate myocardial characteristics using EBT. It is suggested that myocardial ischemia progressed from the endocardial region and EBT is useful to detect the endocardial ischemia. We suggested that the rate of coronary stenosis in patients with LS can be estimated by calculating the M/L rations in the endocardial parts of early EBT images. EBT enables accurate evaluation of myocardial characteristics non-invasively.

Evaluation by contrast-enhanced electron beam computed tomography of myocardial perfusion and tissue characteristics in congenital aortic stenosis.

The evaluation of myocardial perfusion and tissue characteristics gives useful information regarding the indication for surgery. In the present study, two-phase contrast enhanced electron beam computed tomography (EBT) was used to quantitatively examine myocardial perfusion and the tissue characteristics of the left ventricular (LV) myocardium in congenital aortic stenosis (AS). The AS group comprised 15 patients and the control group had 14 non-AS patients. Myocardial ischemia and tissue characteristics were evaluated by the ratio of the incremental CT number of the myocardium (M) and the lumen (L) of the LV (M/L) in, the early phase with and without dipyridamole (Dp) loading and in the late phase after enhancement (respectively). In a comparison between the AS group and the controls, mean early M/Ls were significantly lower in the AS group than in the controls (20+/-5% vs 37+/-10%, p<0.01) and mean late M/Ls in the AS group were also significantly lower (47+/-11% vs 62+/-13%, p<0.01). In the AS patients, early M/Ls in the subendocardial and apical regions were especially lower than those of other segments, but the late M/Ls in these segments were inversely higher than those of other segments. These results suggest 2 things: (1) the existence of latent LV myocardial ischemia in AS patients, which is probably because of a hypertrophied LV wall, in turn caused by afterload, and (2) the presence of more myocardial ischemia and interstitial fibrosis in the subendocardial and apical regions of the AS heart. Using Dp loading for the AS patients increased the clarity of the contrast images. Contrast-enhanced EBT is useful for evaluating myocardial characteristics and perfusion in AS, and gives new insight into the LV wall characteristics in AS, as well as an indication for surgical correction of congenital AS.

Pulmonary venous obstruction after total cavopulmonary connection in heterotaxy.

Pulmonary venous obstruction is a rare complication after total cavopulmonary connection by intraatrial grafting. We experienced this complication in two patients. In one of them, a large prosthesis produced inflow obstruction of the dominant ventricle and was successfully replaced with a smaller tube. In the other patient, the intraatrial tube had become severely adherent to the common pulmonary venous orifice and was removed entirely. Conversion to an extracardiac Fontan circulation was later successfully established.