48 research outputs found
Cardiac ion channel gene mutations in Greek long QT syndrome patients
The long QT syndrome (LQTS) is an inherited cardiac arrhythmia that may
lead to sudden death in the absence of structural heart disease.
Mutations in the cardiac potassium and sodium channel genes can be found
in approximately 70% of patients with a highly probable clinical
diagnosis. In this study, we aimed to genotype and explore the yield of
genetic testing of LQTS patients from Greece, for whom there are no
collective published data available. We clinically evaluated and
genetically screened 17 unrelated patients for mutations in the KCNQ1,
KCNH2, SCN5A, KCNE1, and KCNE2 cardiac ion channel genes. Genetic
testing was positive in 6 out of 8 patients with a highly probable
clinical diagnosis of LQTS and negative for all the other patients. Two
patients carried KCNQ1 mutations (c.580G>C, c.1022C>T), while 4 patients
carried KCNH2 mutations (c.202T>C, c.1714G>A, c.3103delC, c.3136C>T). To
the best of our knowledge, the last mentioned mutation (c.3136C>T) is
novel. Moreover, 27 single-nucleotide polymorphisms (SNPs) were
detected, 5 of which are novel. Our preliminary data indicate a low
genetic diversity of the Greek LQTS genetic pool, and are in accordance
with international data that genetic testing of the major LQTS genes is
efficient in genotyping the majority of patients with a strong clinical
diagnosis. Therefore, the transition of an LQTS genetic screening
program from research to the diagnostic setting within our ethnic
background is feasible
Invasive infection caused by Pseudallescheria boydii in an immunocompetent patient
Pseudallescheria boydii is a saprophytic fungus frequently isolated from agricultural soil and polluted water. Disseminated and invasive infections with this organism are seen primarily in the immunocompromised host. We present an unusual case of invasive P. boydii infection in an immunocompetent patient admitted to our hospital with clinical, laboratory and ECG findings of a possible acute myocardiac infarction. Six hours after admission without treatment with thrombolytic agents she presented with a right hemiparesis and loss of consciousness; a CT scan showed a cerebral hemorrage. She was treated with dexamethasone i.v. 32 mg per day. She was not incubated. Two blood cultures taken the 15th and 16th day of hospitalization, respectively, revealed a filamentous fungus which was identified by CBS as P. boydii. The pathologic examination of one nodule showed hyphae of fungi. Despite the administration of amphotericin B the patient died one week later
Beneficial effect of ischemic preconditioning on post-infarction left ventricular remodeling and global left ventricular function
Background: Preinfarction angina (PA) is a clinical analogue of ischemic preconditioning that improves postinfarct prognosis. Data concerning the association of PA with post infarction left ventricular (LV) remodeling and LV diastolic function are limited. We aimed to evaluate this association in patients with acute myocardial infarction (AMI) in the modern clinical era of widespread use of revascularization and antiremodeling medical treatment. Methods: We studied 53 patients with anterior AMI who underwent complete reperfusion and received up to date antiremodeling medical treatment. LV remodeling, systolic and diastolic function were assessed using 2D echocardiography at baseline and 6 at months follow-up. Patients were divided into two groups regarding the presence or absence of PA. Results: LV remodeling at follow-up was less frequent in the PA group (25 vs. 55 %, P<.05). Patients with PA had lower end-systolic volume index at baseline and follow up (24.1±6 vs. 30.1±14 ml/m 2, P<.001 and 25.3±8 vs. 35.6±2 ml/m 2, P=.001 respectively). Additionally at 6 months, they had better LV ejection fraction (52.1±9 vs. 42.9±10 %, P=.002) and exhibited improved diastolic filling as reflected by mitral E/e′ (14.6±5 vs. 18.8±8, P=.05). Conclusions: Ischemic preconditioning in the form of PA promotes better LV systolic and diastolic function in the mid-term and is associated with less postinfarct LV remodeling in this specific study population. The results of the study underline the possible need for further risk stratification of AMI patients regarding the absence of PA. © 2011 Elsevier Inc
Beneficial effect of ischemic preconditioning on post-infarction left ventricular remodeling and global left ventricular function.
BACKGROUND: Preinfarction angina (PA) is a clinical analogue of ischemic preconditioning that improves postinfarct prognosis. Data concerning the association of PA with post infarction left ventricular (LV) remodeling and LV diastolic function are limited. We aimed to evaluate this association in patients with acute myocardial infarction (AMI) in the modern clinical era of widespread use of revascularization and antiremodeling medical treatment. METHODS: We studied 53 patients with anterior AMI who underwent complete reperfusion and received up to date antiremodeling medical treatment. LV remodeling, systolic and diastolic function were assessed using 2D echocardiography at baseline and 6 at months follow-up. Patients were divided into two groups regarding the presence or absence of PA. RESULTS: LV remodeling at follow-up was less frequent in the PA group (25 vs. 55 %, P<.05). Patients with PA had lower end-systolic volume index at baseline and follow up (24.1±6 vs. 30.1±14 ml/m(2), P<.001 and 25.3±8 vs. 35.6±2 ml/m(2), P=.001 respectively). Additionally at 6 months, they had better LV ejection fraction (52.1±9 vs. 42.9±10 %, P=.002) and exhibited improved diastolic filling as reflected by mitral E/e' (14.6±5 vs. 18.8±8, P=.05). CONCLUSIONS: Ischemic preconditioning in the form of PA promotes better LV systolic and diastolic function in the mid-term and is associated with less postinfarct LV remodeling in this specific study population. The results of the study underline the possible need for further risk stratification of AMI patients regarding the absence of PA