Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome.

Naxos disease is an autosomal recessively inherited familial syndrome characterized by woolly hair, palmoplantar keratoderma and a cell adhesion cardiomyopathy, especially arrhythmogenic right ventricular dysplasia (ARVD). Carvajal syndrome is a variant of Naxos disease in which curly or woolly hair, biventricular--predominantly left ventricular involvement were seen. Mutations in genes encoding the cell adhesion proteins like plakoglobin and desmoplakin were related with these syndromes. We report a 17-year-old boy and his family findings with curly hair, palmoplantar hyperkeratosis, ARVD and left ventricular involvement. The family was of Arabic origin, and a third-degree consanguinity was reported between the parents. They are from east part of Turkey and there were no relatives from Cyclades Island (Greece). Patient's younger brother had ARVD without cutaneous manifestations of the syndrome and his grand father had mild ARVD, curly hair and palmoplantar hyperkeratosis.

Relation between proinflammatory to anti-inflammatory cytokine ratios and long-term prognosis in patients with non-ST elevation acute coronary syndrome.

OBJECTIVE: To investigate the relation between serum high sensitivity (hs) C reactive protein (CRP), proinflammatory cytokine concentrations, proinflammatory to anti-inflammatory cytokine ratios and long-term prognosis in patients with non-ST elevation acute coronary syndrome (NSTEACS). DESIGN: Prospective follow-up study for the first six months and then for the first year after admission to hospital. SETTING: Tertiary referral centre. PATIENTS: 80 patients (60 men, 20 women, mean age 60 (SD 10) years) with NSTEACS and moderate to high TIMI (Thrombolysis In Myocardial Infarction) risk scores. INTERVENTIONS: Blood samples from patients with NSTEACS were obtained at the time of admission. Serum concentrations of hs-CRP, (hs) pro-inflammatory (interleukin (IL) -1beta, IL-6, tumour necrosis factor alpha) and (hs) anti-inflammatory (IL-10) cytokines were analysed and proinflammatory to anti-inflammatory cytokine ratios were calculated by dividing proinflammatory cytokine concentrations by anti-inflammatory cytokine IL-10. MAIN OUTCOME MEASURE: The primary end point of the study was new coronary events (NCE) defined as the combination of cardiac death, non-fatal myocardial infarction and recurrent rest angina that required hospitalisation within 12 months of follow up. RESULTS: During the one-year follow-up period, 23 patients (29%) met the NCE criteria. Concentrations of hs-CRP, IL-1beta and IL-6 and ratios of IL-1beta:IL-10 and IL-6:IL-10 were significantly higher in patients with NCE than in patients without NCE. In the logistic regression analysis, IL-6:IL-10 ratio was the most important predictor for NCE (p = 0.006) with an odds ratio of 2.24 (95% CI 1.26 to 3.97). CONCLUSIONS: Cytokine concentrations and proinflammatory to anti-inflammatory cytokine ratios may be useful markers for predicting vascular risk in patients with NSTEACS.

Plasma lipids in Turkish children: impact of puberty, socioeconomic status, and nutrition on plasma cholesterol and HDL.

In Turkish adults, HDL cholesterol (HDL-C) levels are 10-15 mg/dl lower than those of adults in western Europe and the United States. In this study, we determined whether HDL-C levels in Turks are low from birth to adulthood and assessed the effect of socioeconomic status (SES) on plasma lipids and lipoproteins. Analyses of cord blood from 105 Turkish newborns showed low levels of plasma cholesterol ( approximately 60 mg/dl) and HDL-C (approximately 30 mg/dl), consistent with results from other Western ethnic groups. Prepubescent 8- to 10-year-old Turkish boys and girls of upper (n = 82) and lower (n = 143) SES had high HDL-C levels (50-60 mg/dl) similar to those of western European children. However, the cholesterol (154-158 mg/dl) and HDL-C (55-58 mg/dl) levels of upper SES children were approximately 25 and approximately 12 mg/dl higher, respectively, than those of lower SES children. Height, weight, skinfold thickness, and estimated body fat were greater in the upper SES children and appeared to reflect dietary differences. Upper SES children consumed more total fat (approximately 35% vs. 25% of total calories), including more saturated fat of animal origin, and less carbohydrate (approximately 50% vs. 62% of total calories), consistent with their elevated plasma cholesterol levels. Carbohydrate intake correlated inversely with the HDL-C level. The HDL-C levels in the prepubescent children, especially those of higher SES, who consumed diets more like western Europeans, decreased markedly to adult levels, with males exhibiting a approximately 20 mg/dl decrease (from 58 to 37 mg/dl) and females a approximately 13 mg/dl decrease (from 55 to 42 mg/dl). SES did not affect HDL-C levels in adults. The profound decrease may reflect alterations in androgen/estrogen balance in Turks at puberty and a modulation of hepatic lipase affecting HDL-C levels.

Significance of QTc prolongation on ventricular arrhythmias in patients with left ventricular hypertrophy secondary to essential hypertension.

The present study was designed to detect the arrhythmogenic effect of left ventricular hypertrophy, QTc prolongation and the relationship between the QTc duration and ventricular arrhythmias in patients with left ventricular hypertrophy secondary to essential hypertension. Sixty-eight hypertensive patients (51 male and 17 female, mean age 52+/-6 years) and 30 healthy normotensive subjects (22 male and eight female, mean age 49+/-6 years) were enrolled in the study. The frequency of ventricular arrhythmias was investigated with 24-h ambulatory electrocardiographic monitoring and grade 3 and 4 ventricular arrhythmias according to a modified Lown and Wolf classification were accepted as complex arrhythmias. The echocardiographic features of the patients were divided into five groups as follows: (1) normal left ventricular diameter and wall thickness, (2) concentric left ventricular hypertrophy, (3) asymmetric septal hypertrophy, (4) dilated left ventricle, (5) dilated and hypertrophic left ventricle. The frequency of complex ventricular ectopia and the QTc duration were estimated for each group and compared with Student's t-test. Left ventricular hypertrophy was detected in 38 of 68 patients (56%) with essential hypertension. In patients with left ventricular hypertrophy, the incidence of complex ventricular arrhythmias was two- and fivefold higher compared with patients without left ventricular hypertrophy and with controls, respectively. All of the patients with echocardiographic left ventricular dilatation had experienced complex ventricular arrhythmias. QTc duration correlated positively with left ventricular mass index and left ventricular internal diastolic dimension. The highest QTc intervals were detected in patients with left ventricular hypertrophy and complex arrhythmias. In patients with left ventricular hypertrophy, a QTc duration longer than 380 ms had a sensitivity of 74% and a specificity of 89% for detecting complex ventricular arrhythmias. It is concluded that patients with left ventricular hypertrophy have a higher incidence of complex ventricular arrhythmias and QTc prolongation in those patients can be a good marker for the increased risk of arrhythmias.

Abnormal QT dispersion in Behçet's disease.

Behçet's disease, which was originally described by Hulusi Behçet in 1937, is a generalized chronic inflammatory disease characterized by recurrent oral and genital ulcerations, ocular and dermal manifestations. Cardiac manifestations include pericarditis, myocarditis, conduction system disturbances, coronary arteritis, mitral valve insufficiency, dilated cardiomyopathy, ventricular arrhythmias and sudden cardiac death. There is little knowledge about the mechanism of ventricular arrhythmias in Behçet's disease. In this study, we examined the value of dispersion of ventricular repolarization as a diagnostic tool to assess the risk for ventricular arrhythmias and sudden cardiac death in Behçet's disease. We examined 38 patients (age: 34 +/- 4.6 years, 20F, 18M) with Behçet's disease and 30 age-matched healthy subjects were selected to serve as the control group. Repolarization dispersion parameters were calculated as the difference between maximal and minimal values of QT, QTc, JT and JTC from 12-lead ECG recordings at 25 or 50 mm/s. We found QTd, QTc-d, JTd and JTc-d intervals of 60.65 +/- 16.1, 78.45 +/- 11.4, 71.51 +/- 18.3 and 92.33 +/- 15.4 ms in Behçet's disease patients, these values in control subjects were 40.1 +/- 9.7, 56.36 +/- 7.5, 41.66 +/- 4.3 and 53.92 +/- 9.2 ms respectively (p < 0.001). Striking increases in QT and JT dispersion indicating regional inhomogeneity of ventricular repolarization were noted in patients with Behçet's disease. This new finding suggests a possible explanation for the presence of ventricular arrhythmias in patients with Behçet's disease.