PURPOSE Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. METHODS A retrospective analysis was ...

background: cardiac risk assessment with myocardial perfusion imaging (mpi) is a common practice for some elderly breast cancer patients who are candidates for operation. in rare cases the tumor may become visible in the images. case presentation: this is the report of a case with a huge slow-growing breast tumor suspicious for malignancy and presenting with methoxy-isobutyl-isonitrile (mibi) u...

We have described some of the cardiological findings in 66 patients with Williams-Beuren syndrome and analysed the two dimensional cross sectional echocardiograms in 61 of them in comparison with normal controls. Supravalvar aortic narrowing was shown in all patients examined echocardiographically and may be a useful diagnostic sign. We documented a 7.8% incidence of systemic hypertension, a 15...

anomalies of origin, course, and distribution of coronary arteries, including single coronary artery, are well known in patients with tetralogy of fallot. however, to the best of our knowledge, there is no published case report of pentalogy of fallot with a single coronary artery. herein, we introduce a 22-year-old female patient diagnosed via echocardiography and cardiac catheterization preope...

Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies consisting of phalangeal dislocations and an extra ossification centre distal to the second metacarpal. However, the latter changes are not consistently obse...

OBJECTIVES We sought to determine whether taking oral erythromycin prior to SPECT myocardial perfusion imaging with Tc99m-sestamibi would reduce the amount of interfering extra-cardiac activity and improve the image quality. METHODS A total of 96 patients who were routinely referred for myocardial perfusion imaging were randomly assigned to one of two groups. Patients in group A received 500 ...

We read with interest the article in the November 2010 edition by Brown et al. in which the authors have presented their experience in managing 27 patients with supramitral ring (SMR) associated with other cardiac anomalies [1]. Coming from authors with many publications to their credit, we were surprised to read the fourth paragraph of their discussion wherein the authors have sought to be the...

Background. In the management of hearts with deranged laterality, it is essential that the left and right atrial chambers are correctly identified. There are two major approaches, which are based on venous connections or on the morphology of the atrial appendages, and there is no consensus as to which is the most useful. We used the ivliv mouse mutant, which is known to be pertinent to this pro...

We report three cases of velocardiofacial syndrome (VCFS) with anal anomalies who have deletions of the 22q11 region and a further case where the proband has VCFS clinically and her father has an anal anomaly. It is important to consider VCFS in the differential diagnosis of children with anal anomalies and to look for other features of the syndrome, such as asymmetrical crying facies, submucou...