1/13. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/digeorge syndrome I and digeorge syndrome II loci.Over 90% of patients with digeorge syndrome (DGS) or velocardiofacial syndrome (VCFS) have a microdeletion at 22q11.2. Given that these deletions are difficult to visualize at the light microscopic level, fluorescence in situ hybridization (FISH) has been instrumental in the diagnosis of this disorder. Deletions on the short arm of chromosome 10 are also associated with a DGS-like phenotype. Since deletions at 22q11.2 and at 10p13p14 result in similar findings, we have developed a dual-probe FISH assay for screening samples referred for DGS or VCFS in the clinical laboratory. This assay includes two test probes for the loci, DGSI at 22q11.2 and DGSII at 10p13p14, and centromeric probes for chromosomes 10 and 22. Of 412 patients tested, 54 were found to be deleted for the DGSI locus on chromosome 22 (13%), and a single patient was found deleted for the DGSII locus on chromosome 10 (0. 24%). The patient with the 10p deletion had facial features consistent with VCFS, plus sensorineural hearing loss, and renal anomalies. cytogenetic analysis showed a large deletion of 10p [46, XX,del(10)(p12.2p14)] and FISH using a 10p telomere region-specific probe confirmed the interstitial nature of the deletion. Analysis for the DGSI and the DGSII loci suggests that the deletion of the DGSII locus on chromosome 10 may be 50 times less frequent than the deletion of DGSI on chromosome 22. The incidence of deletions at 22q11.2 has been estimated to be 1 in 4000 newborns; therefore, the deletion at 10p13p14 may be estimated to occur in 1 in 200,000 live births.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/13. myocardial infarction in a patient with congenital coronary anomaly.The authors describe the clinical case of a 38-year-old patient, with a history of smoking and hypercholesterolemia, who was admitted for non-Q wave acute myocardial infarction, and in whom coronary angiography revealed severe coronary disease and a congenital coronary anomaly. Unlike many congenital coronary anomalies that are manifested in ischemic disease, the nature of this patient's anomaly may have contributed to its benign clinical evolution, and influenced the therapeutic approach.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/13. An unexpected cause of angina detected by ECG-gated cardiac computed tomography.Until recently anomalous coronary artery anatomy was only identified either by coronary angiography, at autopsy, or during cardiac surgery. With recent developments in the area of cardiac imaging, ECG-gated cardiac computed tomography (CT) has emerged as a minimally invasive modality to delineate both coronary anatomy and pathology. We present a case of an anomalous right coronary artery origin from the ascending aorta detected by ECG-gated cardiac CT in a 47 year-old male who presented to the emergency department complaining of acute chest pain after intense exercise. Given its relatively non invasive nature, ECG-gated cardiac CT may assist in the diagnosis and management of patients with atypical chest pain in which more invasive diagnostic examinations (i.e. coronary angiography) are not warranted.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/13. The value of 64-slice computed tomography in a patient with an anomalous and atherosclerotic coronary artery.We report the case of a 64-year-old male presenting with chest pain with a history of hyperlipidemia and smoking. Coronary angiogram was not successful to visualize the right coronary artery. Contrast enhanced 64-slice computed tomography (CT) identified the origin of the RCA from the aorta and distal stenosis of the vessel. Additionally, it revealed that the nature of the stenosis could be consistent with soft plaque or thrombus. Repeated coronary angiogram confirmed the data obtained by 64-slice CT. The confirmatory value of 64-slice CT in the evaluation of coronary abnormalities and stenoses has been addressed by this case report.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/13. Anomalous circumflex artery: intravascular ultrasound imaging of dynamic compression and "two wire-two vessel" percutaneous intervention.An anomalous origin of the left circumflex is the most common congenital abnormality encountered in coronary angiography and it may selectively predispose to focal accelerated atherosclerotic disease. We report the case of a 54-year-old man who presented with non-ST elevation myocardial infarction and a characteristic retroaortic (proximal) culprit lesion in his anomalous circumflex artery. Intravascular ultrasound images illustrate the dynamic nature of the lumen compression. A "two wires-two vessel" angioplasty technique provided extra support and is recommended to facilitate successful anomalous circumflex percutaneous coronary interventions.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/13. Anomalous origin of the left coronary artery.Coronary artery anomalies are a frequent finding in the general population and often result in sudden death. Therefore, rapid diagnosis and surgical correction are essential. Although coronary arteriography ultimately is necessary to determine the exact nature of the anomaly, two-dimensional echocardiography and radionuclide tests may provide valuable information in the initial workup of patients with chest pain, as demonstrated in the case reported here. This patient, who had angina-like symptoms, was found on cardiac angiography to have an anomalous left coronary artery rising from the right coronary sinus of valsalva. Double coronary artery bypass grafting involving the left anterior descending and circumflex marginal vessels alleviated symptoms and resulted in improved exercise tolerance. The authors discuss theories explaining the spectrum of ischemia, infarction, and sudden death and surgical alternatives that improve survival rates.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/13. Single coronary artery: right coronary artery originating from distal left circumflex.This report describes a patient with single coronary artery, in whom the right coronary artery originated from the distal left circumflex. However, this anomaly was not of clinical significance based on atypical nature of chest pain, negative thallium exercise test and absence of coronary obstruction.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/13. Selective coronary arteriography in children.Anomalies and disease processes of the coronary arteries in children are uncommon. However, with the recent advances in cardiac surgical techniques, many of these lesions are amenable to surgery that requires accurate anatomic delineation by angiography. Ascending aortography is the angiographic procedure commonly used to image the coronary arterial anatomy in children. In some instances this procedure fails to show the extent or nature of the pathologic process. In some cases, selective coronary arteriography is essential for successful management. Twelve patients are presented in whom selective coronary arteriography was indicated, and its value is compared with that of nonselective angiography. Indications for selective coronary arteriography in children are given, and its complications are also discussed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/13. Anomalous origin of the left coronary artery: angiographic and myocardial perfusion scintigraphic correlates.We studied a patient with an anomalous left coronary artery arising from the pulmonary artery by using conventional angiographic and myocardial imaging techniques. Myocardial imaging with radioactive 201thallium confirmed the significance of resting Q waves, and the defect in anterior perfusion coupled with the presence of thallium in the pulmonary outflow tract during exercise underscored the dynamic nature of the ischemic response to exercise in this syndrome.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/13. Visualization of coronary artery fistula by two-dimensional echocardiography.We report the case of a patient in whom an aneurysmal coronary artery fistula was visualized with two-dimensional echocardiography. Subsequent contrast echocardiography, coronary arteriography, and surgery confirmed the location and nature of the lesion. Contrast echocardiography was superior to angiography in delineating the cardiac chamber into which the fistula emptied.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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