Microdeletion study in children with selective congenital heart disease; an Iranian multicenter study

Determining the frequency of chromosome 22q11.2 microdeletion in children with congenital cardiac conotruncal abnormalities using Fluorescence in-situ Hybridization [FISH] technique and estimating relation between DiGeorge Syndrome and cardiac conotruncal abnormalities. One-hundred and eighty cases [106 Males, 74 Females] with selective congenital heart disease [conotruncal abnormalities] referred to the hospitals affiliated to Tehran University during 2004-2007 were evaluated by pediatric cardiologists. All patients were assessed for chromosome 22q11.2 microdeletion using FISH technique. Consequently, patients with 22q microdeletion were studied for T cell abnormalities. Median age of the patients at the time of study was 18 months [3d-16y]. The microdeletion of chromosome 22q11.2 was detected in 17 [9.5%] patients with conotruncal abnormalities, including 5 [29.4%] Tetralogy of Fallot plus Supravalvular Pulmonary Stenosis, 4 [23%] Truncus Arteriosus, 5 [29.4%] Pulmonary Artesia with Ventricular Septal Defect, 2 [11.8%] CO AO+Intrrupted Aortic Arch and one case of Valvular Pulmonary Stenosis. Five of uncorrelated cases had crananiofacial dysmorphism. Chromosome 22q11.2 microdeletion FISH study should be considered in patients with cardiac lesions particularly conotruncal abnormality with or without syndromic problems [craniofacial dysmorphism and developmental delay] to provide an appropriate genetic counseling with more accurate estimation of recurrence risk and ultimately prenatal diagnosis in affected families

Device occlusion versus surgery for closure of congenital heart defects: cost issues in Iran

Closure of patent ductus arteriosus [PDA], ventricular septal defect [VSD] and atrial septal defect [ASD] can be done surgically or by device. This study was designed to compare the total cost of surgical or device closures of PDA, ASD or VSD for Iranian patients. This is a cross-sectional study, conducted from January 1, 2005 until January 1, 2006 in two large heart centers of Tehran. The study population consisted of 91 patients with isolated PDA, ASD or VSD who underwent either surgical or device closure. PDA device closure either with the Amplatzer device or coil was less costly than that via surgery. VSD closure with the Amplatzer device was more costly [17.6%]. Although ASD closure was also more expensive [15.4%], the difference was not statistically significant. It can be concluded that PDA closure is cheaper than surgery in Iran. ASD and VSD device closures are more expensive, but the added cost can be affordable in view of the advantages of device closure

Cardiac Abnormalities in the Iranian Pediatric and Adolescent Population with Chronic Renal Failure

It has been well documented that left ventricular hypertrophy [LVH] is an independent factor for cardiac death in children. The epidemiologic information reveals that there is a very high prevalence of LVH in children with chronic renal failure [CRF]. The purpose of this study was to evaluate the existence of left ventricular hypertrophy, its severity and other cardiac abnormalities in children and young adults with chronic renal failure [CRF], end stage renal disease [ESRD] on hemodialysis [HD] or post renal transplantation [RTx]. Sixty-three patients including 31 females and 32 males aged 1 to 18-year- old with defined causes for renal damage were enrolled in the study. Study patients were distributed in three groups: HD [n=45], CRF [9] and RTx [9]. LVH and degree of hypertension were compared with an age and sex-matched control group [63 normal individuals]. Left ventricular mass indexed for height [LVM/Ht and LVM/Ht[2.7]] and body surface area [LVM/BSA], and other related parameters were determined by echocardiography in both groups. Laboratory investigations were carried out at a reference laboratory for the study group.The index of LVM/BSA in CRF group was more [r=0.765] than the control group. The HD patients had significantly higher LV systolic and diastolic dimensions. Analysis of variance [ANOVA] showed the influence of groups on subject score on the LVM. A significant effect of groups on the mean score on the LVM was noted. An important finding of this study was the correlation between serum creatinine and LVM in the HD and RTx subjects by both linear and multiple regression analyses. There was also significant difference amongst groups with respect to blood parameters, which is discussed. This study demonstrates that left ventricular hypertrophy and cardiac abnormalities are frequent findings in children with renal impairment or ESRD. The degree of hypertrophy is often severe, particularly following transplantation. Further studies to clarify the relationship between biochemical disturbances and ventricular abnormalities are suggested

Study of late potentials in pediatric patients after open heart surgery

This study was conducted to assess the incidence of abnormalities of ventricular depolarization [late potentials] in children with sinus rhythm after open heart surgery and their relation to spontaneous ventricular tachycardia. Open heart surgery, particularly operations involving ventriculotomy, may predispose patients to the development of ventricular tachycardia [VT] or ventricular fibrillation [VF]. Previous studies on children with right bundle branch block [RBBB] have shown that late potentials may be a risk factor for developing VT or VF following open heart surgery. After corrective surgery for congenital heart defects, scars may create fractionation and delay of the electrical signals in the heart muscle, providing a substrate for arrhythmias and sudden cardiac death. To find normal values of signal averaged EKG [SA-EKG] indices in children and their changes following open heart surgery, we studied 20 normal children and 20 children with congenital heart disease [CHD] following total correction of heart defects without ventriculotomy. All patients were in normal sinus rhythm and did not have RBBB. The mean age was 8.8 +/- 2.6 years for the control group and 8.1 +/- 2.1 years for the operated patients. SA-EKG was performed for the operated group on the day before and on the 2nd and 4th days after operation. Noise level was less than 1 microvolt. The SA-EKG parameter values were as follows: control group: filtered QRS-duration 40Hz [F. QRS-d], 84.2 +/- 9.5 ms; high frequency low amplitude signals [HFLA], 18.9 +/- 9.5 ms; root mean square 40 [RMS 40], 181.0 +/- 89.4[micro]v; patients: F. QRS-d, 97.2 +/- 19.3*, 116.4:t21.2 * and 122.2 +/- 220A before operation, 2nd day post-op and 4th day post-op, respectively; HFLA, 205 +/- 22.3, 8.9 +/- 7.0*, and 15.4 +/- 16.4 ms, respectively; RMS 40, 146.4 +/- 110.9,92.1 +/- 65.9,and 112.8 +/- 60.3, respectively. Values marked with an asterisk are statistically significant. Except for a significant difference between the QRS duration of normal children and pre-op values of operated patients [p<0.05], there was no remarkable difference between the SA-EKG values pre- and postoperatively. This study in which there was no RBBB, contrary to previous studies, shows that SA-EKG indices are not a predictive value for VT or VF postoperatively. Increased thickness of the ventricular myocardium may be a reason for the increased QRS duration before operation