This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double-outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo-auriculo-vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2-C3, and posterior fusion of the T1-T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap.

Elevated levels of atherosclerotic/ inflammatory risk factors, low haemoglobin levels and loss of residual renal function and their negative effects on heart are of remarkable importance in paediatric patients on maintenance peritoneal dialysis. Achieving recommended targets for haemoglobin, blood pressure and Kt/V urea, preserving residual renal function as well as managing inflammation and subsequent arteriosclerosis is obviously essential to improve the patients' prognosis.

Acute renal failure (ARF) is a major complication in infants who undergo cardiac surgery. The aim of this investigation was to identify possible risk factors for ARF and mortality in this patients group. Out of 64 patients, 21 (32.8%) cases developed acute renal failure and overall mortality rate was 25%. The mortality rate was higher in the infants who developed ARF than those who did not (66.7% and 4.7%, respectively, p<0.05). Also, ARF was positively correlated with mortality (r:0.70, p<0.0001). The nonsurvivors had lower mean serum albumin than did the survivors (p<0.05), and serum albumin level was negatively correlated with mortality (r= -0.34, p< 0.05). For the patients with serum albumin level <3.5 g/dL, the unadjusted odds ratio for mortality was 4.3 (CI 95%:1.05-17.86). Total bypass time and aorta clamping time were significantly longer in the nonsurvivor group than in the survivor group (p<0.05 for both). In conclusion, the significant risk factors for mortality in these patients were development of ARF, low serum albumin level, and long total bypass and aorta clamping times, which may be predictive of poor prognosis.

Cardiac tamponade is a rare but life-threatening complication of umbilical venous catheterization in the newborn. Most complications from central venous catheters are related to incorrect position of the catheter and it is emphasized to confirm the position of the catheter tip after placement in order to avoid possible complications. We present an unusual complication of cardiac tamponade because of umbilical venous catheterization in a term newborn which is extremely rare with correct location of the catheter tip at the junction of inferior vena cava and right atrium. We suggest that correct position never guarantees uneventful catheterization in the newborn. In any infant with a central venous catheter in situ who deteriorates clinically, pericardial effusion/cardiac tamponade must be considered and appropriate action taken.

No abstract

We report two pediatric patients with IDC who underwent autologous PSCT. Both cases were referred to our clinic for cardiac transplantation because of end-stage heart failure resistant to conventional therapy with digoxin, diuretics, ACE inhibitors, and sympathomimetics. They had ejection fractions below 35%. In each case, autologous stem cell transplantation was performed via the coronary arteries, and five wk after the procedure transthoracic echocardiography showed a striking gain in their ejection fractions and an improvement in the left ventricular dimensions compared with the initial measurements. Although heart transplantation is the only option for children with IDC, stem cell transplantation can lessen the waiting list mortality and prolong the time for a patient to wait for a suitable donor.

Our study suggests that the IMA should be the graft of choice in children due to its growth potential and long-term patency.

DTI findings correlate well with conventional Doppler echocardiography findings. Children with ESRD show, after dialysis, echocardiographic signs of LV diastolic dysfunction.