congenital myopathies are a clinically and genetically heterogeneous group of inherited muscle disorders characterized clinically by reduced fetal movements, hypotonia, weakness and developmental delay beginning at birth or in the first year of life. however, there can be a wide variation in clinical findings including mild and asymptomatic presentation to a severe form within each subtype with...

OBJECTIVES To evaluate the utility of auscultatory screening for detecting echocardiographically confirmed rheumatic heart disease (RHD) in high-risk children in the Northern Territory, Australia. DESIGN Cross-sectional screening survey. SETTING Twelve rural and remote communities in the NT between September 2008 and June 2010. PARTICIPANTS 1015 predominantly Indigenous schoolchildren age...

Sudden cardiac death is a rare but devastating event. The majority of cases in young athletes are caused by congenital cardiac abnormalities that are routinely clinically silent before causing sudden death. An optimal screening practice to help identify underlying asymptomatic cardiac abnormalities has met with much debate. Beyond the American Heart Association's recommendations for cardiovascu...

Magnetic resonance imaging (MRI) was conducted with use of the spin-echo technique (0.35 Tesla) in 22 patients with a variety of congenital and cardiovascular anomalies and in 16 normal volunteers. Electrocardiographic (ECG) synchronization of the data acquisition produced transverse, parasagittal, and coronal tomograms that were used to define size and relationship of the great vessels and int...

background pulmonary artery banding (pab) is a technique of palliative surgical therapy used by congenital heart surgeons as a staged approach to operative correction of congenital heart defects. materials and methods we report 5- year experiences from january 2011 to january 2016 of imam reza hospital center (a tertiary referral hospital in mashhad city, north east of iran) that consist of 50 ...

this study briefly reviews the heart abnormalities in diverse intracranial pathologies, including strokes, spontaneous and traumatic subarachnoid hemorrhage and intracranial hemorrhage, and presents the results of a one-year prospective study of heart abnormalities in patients with moderate to severe head injuries and subarachnoid hemorrhage. different abnormalities such as: qt -interval, t -wa...

BACKGROUND Congenital heart disease is the most common type of birth defect, affecting ≈2% of the population. Malformations involving the cardiac outflow tract and semilunar valves account for >50% of these cases predominantly because of a bicuspid aortic valve, which has an estimated prevalence of 1% in the population. We previously reported that mutations in NOTCH1 were a cause of bicuspid ao...

There is a close link between the embryological development of the musculoskeletal system and all other main organ systems. We report a prospective series of 202 patients with congenital vertebral abnormalities and document the associated abnormalities in other systems. There were 100 boys and 102 girls. In 153 there were 460 associated abnormalities, a mean of 2.27 abnormalities for each patie...