Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome.

Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops.

Telmisartan decreases atrial electromechanical delay in patients with newly diagnosed essential hypertension.

BACKGROUND: Atrial electromechanical delay (EMD) parameters predict the development of atrial fibrillation. We investigated the effect of telmisartan treatment on atrial EMD parameters in patients with newly diagnosed essential hypertension. METHODS: Thirty-six patients with essential hypertension were treated with telmisartan (80 mg/day) for 6 months. Baseline electrocardiographic P-wave measurements and echocardiographic atrial EMD parameters were compared with the 6-month follow-up. RESULTS: Pmax and Pd were significantly decreased (108.4 ± 6.1 vs 93.9 ± 6.2 milliseconds, 33.4 ± 8.6 vs 19.5 ± 7.0 milliseconds, respectively, P = .0001 for each) after 6-month telmisartan therapy. The atrial EMD parameters were decreased from baseline (mitral EMD, 68.9 ± 4.9 vs 53.8 ± 4.9 milliseconds; septum EMD, 51.6 ± 7.1 vs 42.6 ± 7. milliseconds1; tricuspid EMD, 48 ± 6.9 vs 39 ± 6.9 milliseconds; interatrial EMD, 20.9 ± 5.5 vs 14.8 ± 5.7 milliseconds; P = .0001 for each parameter). The reduction of interatrial EMD was correlated with the reduction in systolic BP nighttime and the increase in mitral E wave velocity/mitral A wave velocity ratio. CONCLUSION: Telmisartan decreased the atrial EMD parameters in patients with newly diagnosed essential hypertension.

Acute alcohol consumption is associated with increased interatrial electromechanical delay in healthy men.

BACKGROUND: Acute alcohol consumption can cause atrial fibrillation in patients with, and without, heart disease. Increased atrial electromechanical delay (EMD) has been associated with atrial fibrillation. We evaluated the atrial conduction properties by tissue Doppler imaging (TDI) echocardiography in healthy men following acute alcohol intake. METHODS: Thirty healthy male volunteers were included in this study. Baseline ECG, heart rate, blood pressure, and TDI echocardiographic findings were compared to readings taken one hour after drinking six 12-oz cans of beer (76.8 g of ethanol). RESULTS: Although the blood pressure and heart rate remained similar before and one hour after alcohol intake, Pmax and Pd values were significantly prolonged (114.2 ± 10.4 vs 100.8 ± 10.6, p = 0.002; 50.6 ± 9.6 vs 34.5 ± 8.8, p < 0.0001). Interatrial EMD was significantly increased after drinking alcohol compared to the baseline (19.8 ± 9.2 vs 14.0 ± 5.5 ms, p < 0.0002). CONCLUSIONS: Acute moderate alcohol intake was associated with an increased interatrial EMD obtained by TDI echocardiography. This finding may help explain how these patients express increased susceptibility to atrial fibrillation.

Echocardiographic epicardial fat thickness is associated with carotid intima-media thickness in patients with metabolic syndrome.

BACKGROUND: Carotid intima-media thickness (CIMT) is a potential indicator of subclinical atherosclerosis in patients with metabolic syndrome (MetS). Epicardial fat thickness (EFT) is suggested as a new cardiometabolic risk factor. We investigated the association between EFT and CIMT in patients with MetS. METHODS: Forty patients with MetS were compared with 40 age- and sex-matched subjects without MetS in terms of echocardiographic EFT, CIMT, anthropometric measurements, and metabolic profile in this cross-sectional study. RESULTS: The waist circumference, total and LDL-cholesterol, fasting glucose, triglycerides, systolics and diastolic blood pressure levels, hs-CRP, and homeostasis model assessment index for insulin resistance (HOMA-IR) were significantly increased in patients with MetS. The EFT and CIMT were also increased significantly in patients with MetS compared to controls (7.2 ± 2 mm vs. 5.7 ± 1.9 mm; P = 0.001, 0.74 ± 0.1 mm vs. 0.59 ± 0.1 mm; P < 0.01, respectively). Echocardiographic EFT was the only independent predictor of CIMT in the multivariate analysis (standardized ß coefficient = 0.74, P < 0.001). CONCLUSION: EFT is associated with increased CIMT in patients with MetS.

Assessment of atrial conduction time in patients with coronary artery ectasia.

BACKGROUND: Coronary artery ectasia (CAE) is associated with increased sympathetic activity, plasma levels of inflammatory markers, and oxidative stress. These factors can also cause arrhythmias such as atrial fibrillation. Atrial conduction abnormalities in patients with CAE have not been investigated in terms of atrial electromechanical delay obtained by tissue Doppler echocardiography. METHODS: Ninety patients with pure CAE (n = 30), nonobstructive coronary artery disease (NO-CAD) (n = 30), and angiographically normal coronary arteries "controls" (n = 30) were compared in terms of electrocardiographic P-wave measurements, echocardiographic atrial electromechanical coupling (AEC) parameters, and interatrial conduction delay. RESULTS: The mean left atrium diameter in the CAE group was similar to the NO-CAD group but significantly greater than the control group (3.62 ± 0.28 vs 3.46 ± 0.32 vs 3.41 ± 0.31 cm, P = 0.021). P maximum and P-wave dispersion were significantly increased in the CAE group compared to the NOCAD group and the control group (108.6 ± 6.6 vs 97.9 ± 6.6 vs 93.5 ± 6.2, P = 0.0001; 34.4 ± 7.6 vs 23.2 ± 7.8 vs 19.4 ± 7.7 ms, P < 0.0001). Mitral AEC, septal AEC, and tricuspid AEC were significantly higher in the CAE group than the NO-CAD group and the control group (68 ± 4.5 vs 57 ± 4.5 vs 53 ± 4.6 ms, P < 0.0001; 50.7 ± 7 vs 42.7 ± 7 vs 41.7 ± 7.2 ms, P = 0.0001; 47 ± 6.7 vs 39.1 ± 6.7 vs 38.1 ± 6.6 ms, P < 0.0001). Interatrial conduction delay was significantly increased in the CAE group compared to the NO-CAD group and the control group (21 ± 5.5 vs 17.8 ± 5.6 vs 15 ± 5.6 ms, P < 0.0001).The correlation analysis demonstrated that the interatrial conduction delay and P-wave dispersion (Pd) were positively correlated with number of ectatic segments (ESN) (r = 0.41, P = 0.024 vs r = 0.49, P = 0.006). Stepwise multiple linear regression analysis revealed that the ESN was the only independent determinants of interatrial conduction delay (P = 0.024). CONCLUSION: Pd and interatrial conduction delay are prolonged in patients with CAE compared to NO-CAD patients and the healthy controls.

Decreased plasma adiponectin concentrations in patients with syndrome X.

OBJECTIVE: The levels of adiponectin, an anti-atherogenic protein, are decreased in patients with coronary artery disease. Syndrome X is associated with endothelial dysfunction, which is a key feature in the evolution of atherosclerosis. We sought to determine whether serum adiponectin levels are decreased in patients with syndrome X. METHODS: Twenty-three syndrome X patients (14 men, 9 women) who presented with stable angina pectoris, had a positive non-invasive stress test or an abnormal myocardial perfusion scintigraphy single photon emission computed tomography (MPS SPECT) and a normal coronary angiogram, were included in our study, as were 17 asymptomatic healthy subjects (13 men, 4 women) with normal results from non-invasive stress testing. The serum adiponectin levels and lipid profiles of the patients and control subjects were determined with venous samples collected after a 12-hour fast. The results were analysed by a Mann Whitney U test. RESULTS: Mean age (54.1 +/- 11.8 y in patients and 59.8 +/- 9.6 y in control subjects, P > 0.05) and body mass index (28.0 +/- 3.3 in patients and 27.1 +/- 4.2 in control subjects, P > 0.05) did not differ between the two groups. Adiponectin levels in patients with syndrome X (1.5 +/- 1.1 microg/dl) were significantly lower than those in the control group (5.3 +/- 2.9 microg/dl, P < 0.0001). Serum total cholesterol (TCHOL), triglyceride (TG), LDL, and HDL-cholesterol levels did not differ between the two groups (P > 0.05). CONCLUSION: Serum adiponectin levels were lower in patients with syndrome X, and these low adiponectin concentrations may cause endothelial dysfunction. Thus, patients with a marked drop in adiponectin levels may be considered at high risk for future coronary events and may therefore benefit from additional pharmacological treatment.

Relationship between hemorheology and Glu(298)Asp polymorphism of endothelial nitric oxide synthase gene in patients with coronary artery disease.

This study aimed to investigate the relationship between endothelial nitric oxide synthase Glu(298)Asp gene polymorphism and hemorheological parameters. Red blood cell (RBC) deformability, aggregation were measured using an ectacytometry, whole blood, plasma viscosities were determined by a viscometer. Restriction fragment length polymorphism was used to detect polymorphism. Plasma nitrite, nitrate concentrations were determined by Griess method. The genotype distribution of the control group was as follows: 50 (67.5%) GG, 21 (28.4%) GT, 3 (4.1%) TT. A 48 (57.8%) of the patients with CAD had GG, 28 (33.7%) GT, 7 (8.5%) of them TT genotype. RBC aggregation index of CAD patients with G allele was higher and t(1/2) lower compared to controls carrying the same allele. The amplitude of RBC aggregation of healthy subjects with T allele, who are under increased cardiovascular risk was lower compared to control subjects with G allele. The results of this study indicate that, alterations in RBC aggregation seem to be a consequence of CAD, more than being a preexisting cause. Additionally, some compensatory mechanisms by causing decrements in RBC aggregation, may help regulation of circulation in healthy individuals with high cardiovascular risk.

Body fat distribution in childhood obesity: association with metabolic risk factors.

OBJECTIVES: To evaluate the clinical significance of body fat distribution in childhood obesity, we investigated the associations of subcutaneous and intraabdominal (preperitoneal and visceral) fat, estimated by ultrasonography, with metabolic risk factors. SUBJECTS: Fifty-one obese (age 11.5+/- 2.6 years) and 33 non-obese (age 12.2+/- 2.7 years) children. STUDY DESIGN: Case control study. METHODS: Ultrasonographic measurements of fat thickness [maximum and minimum preperitoneal fat thicknesses (Pmax, Pmin), maximum and minimum subcutaneous fat thicknesses (Smax, Smin), visceral fat thickness (V), triceps (Tr) and subscapular (Ss) skin fold thicknesses] were documented. Blood pressures, lipid profiles, fasting insulin levels, glucose/insulin ratio and HOMA IR (homeostasis model assessment for insulin resistance) were evaluated in both groups and these parameters were correlated with body fat distribution. RESULTS: In the obese group, fasting insulin level was correlated to Smin, Smax, and Pmin. HOMA, accordingly, was also correlated to Smin, Smax, and Pmin. Fasting insulin level and HOMA showed no correlation with either Pmax or visceral fat thickness. ANALYSIS: Abdominal subcutaneous fat thickness measurements were the best predictors of hyperinsulinemia (R2: 0.32). CONCLUSION: We did not observe a significant correlation between blood pressure, lipid parameters and body fat distribution in obese group. Abdominal subcutaneous fat thickness might be a better predictor of the risk for hyperinsulinemia in childhood obesity.

Is elevated serum ceruloplasmin level associated with increased risk of coronary artery disease?

BACKGROUND: An imbalance between the lipid peroxidation process and antioxidative protection is associated with the pathophysiology of coronary artery disease (CAD). The authors aimed to determine the relationship between the contributors of antioxidant protection, such as paraoxonase-1 (PON1) activity, albumin, vitamin C and ceruloplasmin (CP) levels, and lipid peroxidation indicators. METHODS: In the present study, the activity of PON1 was measured, together with serum concentrations of a variety of lipid constituents, albumin, vitamin C and CP levels, and lipid peroxidation indicators (conjugated dienes [CDs] and thiobarbituric acid-reactive substances [TBARS]). Data were gathered from 26 nondiabetic, angiographically proven, Turkish CAD patients and 26 healthy controls living in the Antalya region (Turkey). RESULTS: CAD patients had significantly lower PON1 activity, high-density lipoprotein cholesterol, vitamin C and albumin concentrations, and higher CP, CD and TBARS concentrations than the controls. In the entire study population (n=52), serum CP levels were positively correlated with TBARS and CD levels, and negatively correlated with albumin and vitamin C levels, as well as with PON1 activity. On multiple logistic regression analysis, risk factors associated with CAD included high CP and low albumin levels. CONCLUSIONS: CAD patients and controls were matched for age and sex, and high CP and low albumin levels were found to be independent risk factors for CAD. The present data gathered from the study group living in the Antalya region verifies that in CAD patients, CP impairs the oxidant-antioxidant balance in favour of the oxidants.

Right coronary artery arising as a terminal extension of the circumflex artery (a rare coronary artery anomaly).

A single coronary artery is a very rare type of coronary artery anomaly that may present in various forms. A patient is presented in whom the right coronary artery coursed as the terminal branch of the left circumflex artery. This is the second case of this anomaly in the literature.

Catheter entrapment during balloon angioplasty in patient with in-stent restenosis: an unusual complication and its surgical management.

Entrapment of coronary angioplasty hardware is one of the rare complications of percutaneous coronary artery interventions. We reported herein a case of 58-year-old man with an entrapped balloon catheter and guidewire within the right coronary artery during the application of a conventional balloon angioplasty for in-stent restenosis. Surgical removal of the entrapped balloon catheter and guidewire was performed successfully with a coronary artery bypass grafting to the affected vessel. The application of the balloon angioplasty for in-stent restenosis requires every caution against such type of complications.

Anomalous origin of the left circumflex coronary artery: A case report.

The anomalous origin of the left circumflex coronary artery from the right sinus of Valsalva is a relatively common anatomical variation. Difficulties may occur in the diagnostic procedure, but recognition and adequate visualization of the anomaly is essential for proper patient management, especially in patients undergoing evaluation for percutaneous coronary intervention, coronary artery surgery or prosthetic valve replacement. In the present report, a patient who had undergone percutaneous coronary intervention for a right coronary artery lesion after inferior myocardial infarction is described. The anomalous origin of the left circumflex coronary artery arising independently from the right sinus of Valsalva was previously undetected.

Effect of obstructive sleep apnea on aortic elastic parameters: relationship to left ventricular mass and function.

BACKGROUND: Obstructive sleep apnea (OSA) syndrome has a critical association with cardiovascular mortality and morbidity. Aortic elastic parameters are important markers for left ventricular (LV) function and are deteriorated in cardiovascular disease. METHODS AND RESULTS: Aortic elastic parameters and LV functions and mass were investigated in 40 patients with OSA (apnea - hypopnea index (AHI) >or=5) (mean age 51.3 +/-9 years, 32 males) and 24 controls (AHI <5) (mean age 51.9+/-5.2 years, 19 males). All subjects underwent polysomnographic examination and recordings were obtained during sleep. They also underwent a complete echocardiographic examination and systolic and diastolic aortic measurements were noted from M-mode traces of the aortic root. There were no significant differences in the demographic data of the patients with OSA and the controls. Subjects with OSA demonstrated higher values of aortic stiffness (7.1+/-1.88 vs 6.42+/-1.56, p=0.0001), but lower distensibility (9.47+/-1.33 vs 11.8+/-3.36, p=0.0001) than the controls. LV ejection fraction was significantly lower in patients with OSA when compared with the control group (61.3+/-5.2% vs 65.9+/-8.4%, p=0.0001). LV diastolic parameters were also compared and were worse in the subjects with OSA than in the control subjects (mitral E/A: 0.91 +/-0.42 vs 1.35+/-0.66, p=0.001; Em/Am: 0.86+/-0.54 vs 1.23+/-0.59, p=0.021). Respiratory disturbance index had a positive correlation with aortic stiffness (r=0.63, p=0.0001 and negative correlation with distensibility (r=-0.41, p=0.001). CONCLUSION: Aortic elastic parameters are deteriorated in OSA, which has an extremely high association with cardiovascular disease. Increased aortic stiffness might be responsible for the LV systolic and diastolic deterioration in OSA syndrome.

Angiographic detection of the left anterior descending and the right coronary artery after fistulas into the pulmonary artery in a patient with rheumatic mitral stenosis.

Coronary artery fistula is a rare heart defect found in approximately 0.2% of the adult population undergoing coronary angiography. The diagnosis is usually made by aortography and selective coronary angiography. We report here an adult patient with rheumatic mitral stenosis and left anterior descending coronary artery and pulmonary conus branch of right coronary artery-pulmonary artery fistulas detected by coronary angiography.

Improved endothelium dependent vasodilation in endurance athletes and its relation with ACE I/D polymorphism.

BACKGROUND: Aerobic exercise enhances endothelium-dependent vasodilation in healthy individuals. It is thought that exercise increases nitric oxide (NO) production and decreases NO inactivation, leading to an increase in NO bioavailability. Angiotensin II and NO have important roles in maintaining vascular tone. There are polymorphisms of the angiotensin converting enzyme (ACE) gene and the presence of the deletion (D) allele has been associated with higher concentrations of circulating and tissue ACE. In this study, the relationship between endothelial function and ACE gene polymorphisms was investigated in athletes and sedentary subjects. METHODS AND RESULTS: The study group comprised 56 endurance athletes and 46 sedentary subjects who underwent brachial artery ultrasonographic examination. ACE insertion (I) and D allele frequencies were analyzed in all patients. Baseline brachial artery diameter and resting blood flow were similar in athletes and controls (p > 0.05). The flow-mediated dilation (FMD) was 8.48+/-3.65% in athletes and 5.16+/-2.5% in controls (p = 0.0001). FMD was significantly different between ACE genotypes in the athletes (p < 0.0001): it was higher in ACE II (10.5+/-1.6%) subjects than in the DI (8.4+/-2.3%) or DD (7+/-1.2%) subgroups. CONCLUSION: Regular isotonic exercise can improve endothelium-dependent vasodilation especially in those with the ACE II genotype.

Assessment of percutaneous coronary intervention on regional and global left ventricular function in patients with chronic total occlusions.

BACKGROUND: The improvement of regional and global ventricular function following percutaneous coronary intervention (PCI) with reperfusion of the artery supplying the infarct area in acute myocardial infarction is well-described. However, little is known of the potential effects of late recanalization of chronic coronary artery occlusion on left ventricular function. OBJECTIVE: To determine whether PCI improves regional and global left ventricular function in patients with chronic coronary artery occlusions. PATIENTS AND METHODS: Thirty-five patients having at least one coronary artery occluded for six weeks or longer were included in the present prospective study. Exercise thallium-201 myocardial perfusion scintigraphy, multiple-gated acquisition ventriculography and two-dimensional echocardiography were performed in 19 patients (16 men; mean age of 58+/-5 years) who underwent a successful PCI to assess both regional and global left ventricular function before and six weeks following the procedure. RESULTS: The mean ejection fractions before and after reperfusion were 51+/-7% and 58+/-6% using Simpson's method (P<0.001) by echocardiography, and 45+/-1% and 53+/-1% (P=0.01) by multiple-gated acquisition ventriculography, respectively. The echocardiographic wall motion score was 24+/-9 before and 15+/-6 after PCI (P<0.001). The exercise perfusion score (21+/-1 and 14+/-1 [P=0.01]), rest perfusion score (15+/-1 and 12+/-1 [P=0.02]) and reinjection perfusion score (14+/-1 and 11.1+/-1 [P=0.07]) also improved after PCI. The presence of angina was strongly associated with an improvement in left ventricular function and wall motion score (P<0.01). CONCLUSIONS: PCI significantly improved the regional and global left ventricular function in patients with chronic total coronary occlusion. This procedure may provide symptom benefits in selected patients.

Relationship between paraoxonase-1 (PON1) activity and lipoprotein (a) levels in Turkish coronary artery disease patients living in the Antalya region.

BACKGROUND: Turkish adults have a high incidence of coronary artery disease (CAD). DESIGN: The role of lipoprotein(a) (Lp[a]) as a risk factor for CAD and its association with paraoxonase-1 (PON1) activity and lipid peroxidation indicators were evaluated in Turkish subjects living in Antalya. METHODS: Paraoxonase-1 activity, Lp(a), conjugated dienes (CD) and thiobarbituric acid-reactive substances (TBARS) levels were measured in 45 healthy controls and 72 CAD patients. RESULTS: In CAD patients, decreased PON1 activity and increased Lp(a), CD and TBARS levels were observed. Risk factors associated with CAD included TBARS, age and CD. CONCLUSIONS: Our results indicate an association between PON1 activity and Lp(a) level in CAD patients.

Association between paraoxonase-1 activity and lipid peroxidation indicator levels in people living in the Antalya region with angiographically documented coronary artery disease.

BACKGROUND: Paraoxonase-1 (PON1) is a high-density lipoprotein (HDL)-associated enzyme capable of hydrolyzing lipid peroxides. Thus, PON1 plays a preventing role in atherosclerosis by protecting against lipid peroxidation. HYPOTHESIS: The incidence of coronary artery disease (CAD) is high in the Turkish population, and many risk factors have been studied as determinants of CAD. In Turkish people living in the Antalya region, we aimed to determine serum PON1 activity and its relation to lipoproteins and lipid peroxidation markers. METHODS: We measured the activity of serum PON1 together with concentrations of a variety of lipid constituents--total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), very low-density lipoprotein cholesterol (VLDL-C), HDL cholesterol (HDL-C), triglycerides (TG), apolipoprotein (apo) A-I, apoB, and lipid peroxidation indicators (conjugated diene [CD] and thiobarbituric acid-reactive substances [TBARS])--in 108 patients with CAD and 64 healthy subjects (controls). RESULTS: We found that the PON1 activity was significantly reduced in patients with CAD (222.37 +/- 11.31 IU/l) compared with controls (331.75 +/- 20.98 IU/l). These patients had significantly lower HDL-C, PON1/HDL-C, apoA-I, PON1/ApoA-I, and ApoA-I/ApoB, and higher LDL-C, TC/HDL-C, LDL-C/HDL-C, apoB, CD and TBARS than did controls. Total cholesterol and apoA-I concentrations were significantly higher in women than in men in both groups. After multiple logistic regression analysis, TBARS (odds ratio [OR] 568.87; p = 0.000), age (OR 1.10; p = 0.000), gender (OR 4.58; p = 0.008), apoA-I/apoB (OR 0.046; p = 0.003), and PON1/apoA-I (OR 0.58; p = 0.007) were independently indicative of the presence of CAD. CONCLUSIONS: This is the first report of decreased serum PON1 activity and increased lipid peroxidation indicators (CD and TBARS) of patients with CAD living in Antalya, Turkey. Our results indicate that TBARS levels, age, gender, apoA-1/ApoB, and PON1/apoA-I ratios are important markers of CAD.