Transcatheter Occlusion of a Giant Coronary Artery Fistula in a Neonate.

BACKGROUND Although large coronary artery fistulas are uncommon; they lead to substantial over-circulation in the pulmonary vascular beds and left heart system. Fistula occlusions are achieved via surgical or transcatheter technique; however, reports on successful outcomes of transcatheter treatment during the neonatal period are limited. CASE REPORT A female infant was born at the gestational age of 37 weeks with a birth weight of 2615 grams via normal vaginal delivery.

A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period.

Genitopatellar syndrome (GPS) is a rare autosomal dominant disorder caused by de novo pathogenic variants in the gene. It is characterized by genital abnormalities, patellar hypoplasia/agenesis, flexion contractures of the hips and knees, corpus callosum agenesis with microcephaly, and hydronephrosis and/or multiple renal cysts. More than half of patients with GPS have congenital heart defects, mostly atrial and/or ventricular septal defects, patent foramen ovale, and patent ductus arteriosus.

Development of suction force during early diastole from the left atrium to the left ventricle in infants, children, and adolescents.

Although the suction force that moves blood into the left ventricle during early diastole is thought to play an important role in diastolic function, there have been a few studies of this phenomenon in normal children. Suction force is measured as the intraventricular pressure difference (IVPD) and intraventricular pressure gradient (IVPG), which is calculated as IVPD divided by left ventricular length. The purpose of this study was to determine the suction force in infants, children, and adolescents using IVPD and IVPG.

A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.

Objective: To reveal a molecular lesion in the ZC4H2 gene in a Japanese family with arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), and to characterize clinical features of patients with ZC4H2 gene mutations through a literature review.

Patients: The probands are male siblings. The elder brother is an 11-year-old boy who showed AMC and ID and frequent postprandial hypoglycemia since 3 years of age.

Association of Severity of Coronary Artery Aneurysms in Patients With Kawasaki Disease and Risk of Later Coronary Events.

Importance: Few studies with sufficient statistical power have shown the association of the z score of the coronary arterial internal diameter with coronary events (CE) in patients with Kawasaki disease (KD) with coronary artery aneurysms (CAA).

Objective: To clarify the association of the z score with time-dependent CE occurrence in patients with KD with CAA.

Design, Setting, And Participants: This multicenter, collaborative retrospective cohort study of 44 participating institutions included 1006 patients with KD younger than 19 years who received a coronary angiography between 1992 and 2011.

Measurement of Aortic Valve Coaptation and Effective Height Using Echocardiography in Patients with Ventricular Septal Defects and Aortic Valve Prolapse.

Decreased coaptation height in adults has been identified as a marker of early valve failure. We evaluated aortic valve coaptation and effective height in healthy children and in children with a ventricular septal defect (VSD) with aortic cusp prolapse (ACP), using echocardiography. We included 45 subjects with VSD with ACP, 27 did not develop aortic regurgitation (AR) by ACP and 18 developed AR by ACP, and 83 healthy children as controls.

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family.

Assessment of the developmental change in the left atrial volume using real time three-dimensional echocardiography.

Aims: Real time 3D echocardiography (RT3DE) has been applied for the assessment of left atrial (LA) function in patients with adult heart disease; however, LA function is not well known in children. We aimed at determining the normal range of LA volume (LAV) using RT3DE and the feasibility and reproducibility of this method in healthy subjects and at elucidating the developmental changes in the LAV with aging.

Methods And Results: In this study, 359 healthy people (mean age, 23.

Expression of acetylated and dimethylated histone H3 in colorectal cancer.

Aim: The expression of acetylated and dimethylated histone H3 in colorectal cancer was examined by immunohistochemistry and chromatin immunoprecipitation (ChIP)/Western blot (WB) assay. The correlation between the expression of histone H3 and clinicopathological findings was analyzed.

Methods: Formalin-fixed and paraffin-embedded sections obtained from 80 operated cases of colorectal cancer were immunostained with anti-acetylated histone H3 (H3Ac) antibody and anti-dimethylated histone H3 lysine 4 (H3K4) antibody.

[A case of relapsed colon cancer successfully treated by capecitabine].

We report a case of advanced relapsed colon cancer, which had multiple liver and spleen metastasis, controlled for about two years by capecitabine therapy. A 60-year-old female had been diagnosed with ileus due to sigmoid colon cancer in August, 2005. She received sigmoidectomy and adjuvant chemotherapy (Leucovorin/5-fluorouracil therapy).

Evaluation of salvage surgery for type 4 gastric cancer.

Patients with type 4 gastric cancer and peritoneal metastasis respond better to chemotherapy than surgery. In particular, patients without gastric stenosis who can consume a meal usually experience better quality of life (QOL). However, some patients with unsuccessful chemotherapy are unable to consume a meal because of gastric stenosis and obstruction.

Altered central aortic elastic properties in Kawasaki disease are related to changes in left ventricular geometry and coronary artery aneurysm formation.

Background: Recent evidence has suggested that patients display altered arterial elasticity after Kawasaki disease (KD). However, changes in the elastic properties of the central aorta and their relevance to left ventricular geometry have not been studied in patients after KD with and without coronary artery aneurysms (CAAs).

Methods: Clinical and laboratory characteristics of 75 patients with KD were compared with those of 57 controls.

Echocardiographic predictors for persistent functional mitral regurgitation after aortic valve replacement in patients with aortic valve stenosis.

Moderate functional mitral regurgitation (MR) in patients with aortic valve stenosis (AS) is often left unaddressed at the time of aortic valve replacement (AVR) because it is expected to decrease after AVR. However, some patients have persistent moderate MR after AVR. We sought to determine the preoperative echocardiographic predictor for persistent functional MR after AVR in patients with AS.

Persistent tricuspid regurgitation and its predictor in adults after percutaneous and isolated surgical closure of secundum atrial septal defect.

The fate of functional tricuspid regurgitation (TR) after closure of a secundum atrial septal defect (ASD) without any corrective tricuspid valve (TV) surgery remains unclear. We investigated this and the predictors of persistent TR after ASD closure. Thirty-two consecutive patients with moderate or severe TR before ASD closure were examined.

Long-term administration of beraprost sodium for pulmonary arterial hypertension associated with congenital heart disease.

Pulmonary arterial hypertension (PAH) is often associated with congenital heart disease (CHD). Acute administration of beraprost reduces pulmonary vascular resistance in patients with idiopathic PAH and PAH associated with CHD; however, little is known about whether or not long-term treatment with oral beraprost benefits these patients. We report the case of a patient suffering from severe PAH associated with large patent ductus arteriosus (PDA), who was considered to be ineligible for PDA closure using a conventional treatment strategy.

Left atrial function assessed by real-time 3-dimensional echocardiography is related to right ventricular systolic pressure in chronic mitral regurgitation.

Background: Left atrial (LA) volume is a prognostic index in chronic mitral regurgitation (MR). However, little is known about LA function in this setting. We hypothesized that LA dysfunction is related to pulmonary hypertension in chronic MR.

Different determinants of residual tricuspid regurgitation after tricuspid annuloplasty: comparison of atrial septal defect and mitral valve prolapse.

We analyzed 20 patients with atrial septal defect (ASD) who underwent tricuspid valve (TV) annuloplasty and ASD closure, 21 patients with mitral valve prolapse (MVP) who underwent mitral valve (MV) and TV annuloplasty, and 20 healthy controls. Severity of tricuspid regurgitation (TR) was assessed by maximal TR jet area/RA area (%TR) using echocardiography before and early after surgery. Before surgery, 2 groups of patients showed significantly greater RA area, TV annulus diameter, RV systolic pressure, and %TR than controls.

Doppler-derived preoperative mitral regurgitation volume predicts postoperative left ventricular dysfunction after mitral valve repair.

Background: Unexpected postoperative left ventricular (LV) dysfunction after valve repair for mitral regurgitation (MR) occurs in some patients with normal preoperative LV function. Identification of factors that predispose to such LV dysfunction would enhance our understanding of the indications and outcomes of surgery.

Methods: We retrospectively analyzed pre- and postoperative (median fourth day) echocardiograms of 174 patients undergoing valve repair for pure and isolated MR.

Detection of left ventricular dysfunction with Tei index in normal ejection fraction patients with mitral regurgitation before mitral valve surgery.

Ejection fraction (EF) was not considered a reliable parameter of left ventricular (LV) function and was normal in most patients with chronic mitral regurgitation (MR), whereas LV dysfunction expressed as decreased EF was often shown after mitral valve surgery. This study sought the ability of the Tei index to detect latent LV dysfunction in patients with MR and apparently normal EF. One hundred eight patients with apparently normal EF (EF > or =50%) and chronic severe MR who underwent mitral valve repair were investigated.

Usefulness of left ventricular shape to predict the early recovery of left ventricular function after isolated aortic valve replacement for aortic valve stenosis.

Improvement in left ventricular (LV) systolic function after aortic valve replacement (AVR) has been observed in patients with aortic valve stenosis (AS). However, the factors that predict such recovery remain unclear. We sought to identify the predictive value of the LV spherical shape for LV functional recovery after "isolated" AVR in patients with severe AS and LV dysfunction.