Primary Myxoma of the Pulmonary Artery

P>Cardiac myxomas are most commonly found within the left atrium. We now report a patient presenting with dyspnea, palpitation, and chest pain who was found to have myxoma arising from the pulmonary valve commissure. Urgent surgical treatment is curative and warranted for these lesions, in order to prevent outflow obstruction and thromboembolic phenomena. (J Card Surg 2011;26:286-287)

A novel ATP8 gene mutation in an infant with tetralogy of Fallot

We report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified

Results of surgical treatment for infective endocarditis in children

Objective: Infective endocarditis is uncommon condition, with a high degree of morbidity and mortality. It is less common in children, albeit tending to be associated with congenital cardiac malformations. We describe Our experience of the need for surgical treatment in children with infective endocarditis. Patients and methods: We analyzed retrospectively the records of 9 children aged below 16 years seen between May 2003 and March 2005 with infective endocarditis, reviewing the demographic details, clinical presentation, microbiological and echocardiographic data, operative findings, and outcome. Results: Apart from pre-existing renal insufficiency in 1. patient, congenital cardiac malformations were the predisposing factors. Blood cultures were positive in 3, but remained negative in the other 6 patients. The indications for Surgical treatment Included uncontrolled sepsis, congestive heart failure, recurrent endocarditis, patch or graft dehiscence, and pseudoaneursymal formation. Death due to uncontrolled sepsis resulting in multiorgan failure occurred in 1. patient, who had tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries. Another patient died late postoperatively due to cardiac failure after relapse of the endocarditis in the setting of negative blood cultures. Conclusion: Despite advances in antimicrobial therapy, diagnosis, and measures of treatment for infective endocarditis, complications continue to be responsible for substantial morbidity and mortality. Since blood Cultures are frequently negative, clinical and echocardiographic findings should be the major determinants of strategies used for treatment. We believe that our small series of patients seen over the past two years in which Surgical treatment was performed will be helpful in guiding the clinical perspectives for children with infective endocarditis

Echocardiographic diagnosis of a giant thrombus passing through a patent foramen ovale from right atrium to the left atrium

Pulmonary embolus sourced by right atrial thrombus trapped in a patent foramen ovale is an unusual, rare condition. Thus in suspicion of massive pulmonary thromboembolus, echocardiographic examination carries great importance evaluate right ventricular functions and diagnose right sided intracardiac thrombus. We report a 76-year-old female with massive pulmonary embolism caused by a gigantic thrombus trapped in a patent foramen ovale. The echocardiography was the diagnostic procedure to display the source of the thromboembolism and urgent cardiac surgery was successful and life-saving treatment in this case

Mitochondrial mutations in patients with congenital heart defects by next generation sequencing technology.

It has been shown that mitochondrial deoxyribo nucleic acid mutations may play an important role in the development of cardiomyopathy, and various types of cardiomyopathy can be attributed to disturbed mitochondrial oxidative energy metabolism. Several studies have described many mutations in mitochondrial genes encoding for subunits of respiratory chain complexes. Thus, recent studies confirm that pathologic mitochondrial deoxyribo nucleic acid mutations are a major reason of diseases and determining them by next-generation sequencing will improve our understanding of dysregulation of heart development. To analyse mitochondrial deoxyribo nucleic acid mutations, the entire mitochondrial deoxyribo nucleic acid was amplified in two overlapping polymerase chain reaction fragments from the cardiac tissue of the 22 patients with congenital heart disease, undergoing cardiac surgery. Mitochondrial deoxyribo nucleic acid was deep sequenced by next-generation sequencing. A total of 13 novel mitochondrial deoxyribo nucleic acid mutations were identified in nine patients. Of the patients, three have novel mutations together with reported cardiomyopathy mutations. In all, 65 mutations were found, and 13 of them were unreported. This study represents the most comprehensive mitochondrial deoxyribo nucleic acid mutational analysis in patients with congenital heart disease

Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years.

Background - Down's syndrome (DS) is the most common chromosomal abnormality due to a trisomy of chromosome 21 commonly associated with congenital heart defects (CHDs). This study aimed to evaluate the frequency and types of CHD patterns in Turkish children with DS

Prognostic evidence of LEF1 isoforms in childhood acute lymphoblastic leukemia

Introduction The lymphoid enhancer factor 1 (LEF1) is a DNA-binding transcription factor that functions in the Wnt signaling pathway. Increased LEF1 activity is associated with progression of several types of cancer including leukemia. Here, we investigated LEF1 isoform expression and genomic variations in acute lymphoblastic leukemia (ALL)