1/14. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.BACKGROUND: We recently reported a mutation in the PRKAG2 gene to be responsible for a familial syndrome of ventricular preexcitation, atrial fibrillation, conduction defects, and cardiac hypertrophy. We now report a novel mutation in PRKAG2 causing wolff-parkinson-white syndrome and conduction system disease with onset in childhood and the absence of cardiac hypertrophy. methods AND RESULTS: dna was extracted from white blood cells obtained from family members. PRKAG2 exons were amplified by polymerase chain reaction and were screened for mutations by direct sequencing. The genomic organization of the PRKAG2 gene was determined using inter-exon long-range polymerase chain reaction for cDNA sequence not available in the genome database. A missense mutation, Arg531Gly, was identified in all affected individuals but was absent in 150 unrelated individuals. The PRKAG2 gene was determined to consist of 16 exons and is at least 280 kb in size. CONCLUSIONS: We identified a novel mutation (Arg531Gly) in the gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase (AMPK) to be responsible for a syndrome associated with ventricular preexcitation and early onset of atrial fibrillation and conduction disease. These observations confirm an important functional role of AMPK in the regulation of ion channels specific to cardiac tissue. The identification of the cardiac ion channel(s) serving as substrate for AMPK not only would provide insight into the molecular basis of atrial fibrillation and heart block but also may suggest targets for the development of more specific therapy for these common rhythm disturbances.- - - - - - - - - - ranking = 1keywords = disturbance (Clic here for more details about this article) |
2/14. Case report and review of the perinatal implications of maternal lithium use.The purpose of this study was to review the use of lithium in pregnancy and its effects on the neonate. This was a case study and review of the published literature.lithium is commonly used in the treatment of psychiatric disorders, specifically bipolar depression. Bipolar disorders that require treatment with lithium demand special consideration when the woman becomes pregnant. Reported neonatal problems with maternal lithium therapy include Ebstein's anomaly, poor respiratory effort and cyanosis, rhythm disturbances, nephrogenic diabetes insipidus, thyroid dysfunction, hypoglycemia, hypotonia and lethargy, hyperbilirubinemia, and large-for-gestational-age infants.lithium can have adverse effects on the fetus and newborn infant, but data suggest normal behavioral patterns in childhood.- - - - - - - - - - ranking = 1keywords = disturbance (Clic here for more details about this article) |
3/14. Typhoid cardiac involvement.Three cases of typhoid cardiac complications are reported. Salmonella typhi was the aetiological agent in all three; The discovery of 3 patients over a period of 18 months merits special interest, especially since typhoid fever is endemic in the area concerned. The significance of the complication reported here is further enhanced by absence of similar specific cases in the English literature dealing with cardiac salmonellosis. One of the cases described in this article, the only fatality of the series, developed a rhythm disturbance identical with that of a patient whose myocardial abscess was due to salmonella typhimurium. The rarity of typhoid cardiac complications may be deceptive; The septicaemic disturbance may mask it and one must note that cardiac salmonellosis is reported from developed countries, where typhoid fever is a rarity.- - - - - - - - - - ranking = 2keywords = disturbance (Clic here for more details about this article) |
4/14. Premature opening of aortic valve in severe aortic regurgitation.Premature opening of the aortic valve in late diastole has been demonstrated by echocardiography in a patient with severe aortic regurgitation. Valve opening coincided with the end of the diastolic murmur and equalization of aortic and left ventricular diastolic pressures. echocardiography of the aortic valve in severe aortic reflux may, therefore, provide valuable information about the underlying haemodynamic disturbance.- - - - - - - - - - ranking = 1keywords = disturbance (Clic here for more details about this article) |
5/14. Cardiac involvement in the Kugelbert-Welander syndrome.Two cases of the Kugelberg-Welander syndrome (juvenile form of progressive spinal muscular atrophy) associated with cardiomyopathy and cardiomegaly are presented. The first patient, a 24 year old man, had atrial flutter with complete atrioventricular (A-V) block due to A-H block. echocardiography revealed an increase in the left atrial and right ventricular dimensions. The second patient was a 26 year old man whose electrocardiogram revealed an A-V junctional rhythm, deep Q wave in leads I, aVL and V5 to V6 and an RS pattern in lead V1. Histologic examination of the myocardium in Case 2 showed slight interstitial fibrosis. review of previously reported cases shows that (1) the atrium, the ventricular myocardium and A-V conducting tissue may be involved, and (2) atrial arrhythmias, A-V conduction disturbances and congestive heart failure may occur in the Kugelberg-Welander syndrome.- - - - - - - - - - ranking = 1keywords = disturbance (Clic here for more details about this article) |
6/14. Transient hemiplegia in posterior instrumentation of scoliosis.STUDY DESIGN: A case of transient hemiplegia during posterior correction and instrumentation of scoliosis in an 18-year-old woman. OBJECTIVE: To present a case of transient hemiplegia most probably resulting from an arteriovenous fistula. SUMMARY OF BACKGROUND DATA: Neurologic impairment in spinal surgery is a feared complication. Common reasons are direct or indirect trauma to neural elements, intraoperative hypotension, ischemia, bleeding, metabolic dysbalances, or drug effects. review of the literature did not reveal any case of transient hemiplegia similar to the presented one in which none of the mentioned pathologies could be found. CASE SUMMARY: An 18-year-old woman with a right long thoracic lordoscoliosis measuring 67 degrees Cobb angle and a marfanoid phenotype underwent posterior correction and transpedicular instrumentation from T3 to L2. After uneventful correction of the deformity through rod rotation, the wake-up test revealed a right-sided hemiplegia without facial asymmetry or other neurologic abnormalities affecting structures above the spinal cord. The rods were removed, the pedicle screws left in place, and the patient was turned on her back. Within 30 minutes after extubation, the neurologic deficits disappeared completely. Extensive diagnostic workup, including magnetic resonance angiography, did not show any pathologic findings explaining the transient hemiplegia. Two weeks later, the surgical correction was completed. After rod rotation again, right-sided hemiplegia was found in the wake-up test. Leaving the correction and after finalizing surgery, the patient was turned on her back and a 5 x 3-cm mass became apparent in her right sternocleidomastoid region. color-coded duplex sonography revealed an arteriovenous fistula between the right external carotid artery and the right internal jugular vein. After extubation, the mass disappeared and within minutes all neurologic functions returned to normal again. CONCLUSIONS: spine surgeons should be aware of arteriovenous malformations as a potential cause of neurologic disturbances.- - - - - - - - - - ranking = 1keywords = disturbance (Clic here for more details about this article) |
7/14. Cardiac involvement in a patient with limb-girdle muscular dystrophy.A case of limb-girdle muscular dystrophy with cardiomegaly, electrocardiographic abnormalities, and paroxysmal ventricular tachycardia was described. Some of the interesting electrocardiographic features were discussed, and the importance of serial electrocardiograms for the detection of cardiac involvement is emphasized, since acute disturbances in cardiac rhythm may indicate that the patient is in immediate danger of sudden death.- - - - - - - - - - ranking = 1keywords = disturbance (Clic here for more details about this article) |
8/14. Lipomatous hypertrophy of the interatrial septum: in vivo diagnosis.Lipomatous hypertrophy of the interatrial septum (LHIS), a finding associated with obesity and advancing age, consists of the accumulation of adipose tissue, including fetal adipose tissue, in the interatrial septum cephalad and caudad to the fossa ovalis. Previous descriptions of this entity have been limited to autopsy examination. We report a patient in whom the diagnosis of LHIS was established during life by the use of computed tomographic cardiac imaging. As is often the case in patients discovered at autopsy to have LHIS, this patient had atrial fibrillation and, while in normal sinus rhythm, an abnormal P-wave morphology. This patient represents the first patient in whom the diagnosis of LHIS has been established during life. LHIS should be considered in the differential diagnosis of atrial fibrillation and other supraventricular rhythm/conduction disturbances, particularly in obese, elderly patients.- - - - - - - - - - ranking = 1keywords = disturbance (Clic here for more details about this article) |
9/14. progeria with cardiac hypertrophy and review of 12 autopsy cases in the literature.An autopsy of an 11 years 5 months old boy with progeria is presented. Hyaluronuria, low growth rate of skin fibroblasts, decreased number of T-cells in lymphocyte subpopulation, increase of anti dna antibody, and antibody for microsome of thyroid gland were detected clinically. He had suffered an attack of cerebral infarct and died of congestive cardiac failure. Pathologic findings were scleroderma-like skin atrophy, moderate arteriosclerosis of the aorta and great arteries, severely narrowed coronary sclerosis with an extensive subendocardial fibrosis, a large left cerebral infarct with pin-holed stenosis of both internal carotid arteries, cortical atrophy of thymus, and atrophic lymph nodes. The cardiac muscle fibers were slightly hypertrophied and measured 15.5 /- 2.8 microns in diameter. Histologic findings suggest that increasing of collagen in the connective tissue may play an important role in progeria. Further study of metabolic disturbance in the connective tissue of progeria is necessary.- - - - - - - - - - ranking = 1keywords = disturbance (Clic here for more details about this article) |
10/14. A case of the Kugelberg-Welander syndrome complicated with cardiac lesions.There have been a few reports of cardiac involvement in the Kugelberg-Welander syndrome. We presented a case of this syndrome complicated with cardiomegaly and conduction disturbance. The patient, a 21-year-old woman, had atrial standstill and A-V junctional rhythm. The chest x-ray film showed marked cardiomegaly. The His bundle electrogram revealed that H-V interval was 40 msec. She was treated with implantation of cardiac pacemaker.- - - - - - - - - - ranking = 1keywords = disturbance (Clic here for more details about this article) |
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