GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient
ConclusionOur results do prove that p.Y142H is associated with DORV and suggests includingGATA5 as a potential gene to be screened in patients with this phenotype.
ConclusionsDue to the relatively high prevalence of abnormal stress MPI, tailored protocols with a stress-first MPI as well as the use of 2-day protocols and advanced imaging technologies including CZT SPECT, novel image reconstruction software, and PET MPI could substantially reduce radiation dose in complex CHD.
Ventricular septal defect (VSD) is a fatal congenital heart disease showing severe consequence in affected infants, to which early diagnosis plays an important role, particularly through genetic variants. Existing panel-based approaches of variants mining suffer from shortage of large panels, costly of sequencing and missing of rare variants. Although a trio-based method alleviates these limitations to some extent, it is agnostic to novel mutations and computational intensive. Considering these limitations, we are studying a novel variants mining algorithm from trio-based sequencing data and apply it on a VSD trio to ident...
ConclusionBased on our preliminary experience, 4D Flow has become a complementary imaging modality accessible in current practice and open to all patients, infant, child or adult, without restriction of age, weight, size or pathology. The quality of this examination was satisfactory and seems to require an estimated learning curve of 3 months according to our experience.
CONCLUSIONS: Although the evaluation of echocardiography cannot guarantee the success of biventricular repair surgery, echocardiography can still provide relatively valuable basis for surgical decision making. PMID: 31348032 [PubMed - as supplied by publisher]
Neurologic impairment is frequently observed in children with congenital heart disease. Impairment in cerebrovascular carbon dioxide reactivity (CO2R) is related with poor neurologic outcomes. The present study examined CO2R measured with transcranial Doppler (TCD) and near-infrared spectroscopy (NIRS) in children with ventricular septal defect undergoing cardiac surgery.
CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.RESUMO OBJETIVO: Este estudo teve como objetivo avaliar a associa ção genética do número de cópias em dois genes (PRKAB2 e PPM1K) localizados e...
Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (PA/VSD/MAPCAs) is a rare and heterogeneous form of congenital heart disease. Despite improvements in the surgical management of this disease, there is still an ongoing controversy regarding the optimal treatment. Part II of this paper will focus on the surgical results of unifocalization and the need and techniques used for unifocalization revision at Stanford University.
ConclusionA detailed anatomical understanding based on transthoracic echocardiography, cardiac computed tomography, and three-dimensional printing can justify a decision to not operate in cases of congenitally corrected transposition of the great arteries with hemodynamically balanced pulmonary stenosis and a ventricular septal defect, as observed in the present case.
Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (PA/VSD/MAPCAs) is a relatively rare and extremely heterogeneous form of congenital heart disease. Despite vast improvements in the surgical management of this disease, there is still an ongoing controversy regarding the optimal treatment. The purpose of this paper is to summarize the surgical algorithm and experience at Stanford University.
If the left and right ventricles were siblings, the right would have a reasonable claim that the left receives preferential treatment during childhood treatment of congenital heart disease. This would be relevant to pathologies such as tetralogy of Fallot, truncus arteriosus, and pulmonary atresia with ventricular septal defect. By the time adolescence rolls around, the right ventricle has suffered years of volume and pressure load. The left ventricle remains perky, worried that its sick sibling might one day affect its longer-term prospects.