Gaucher disease with communicating hydrocephalus and cardiac involvement.

A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life-threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery.

Xenograft transplantation in congenital cardiac surgery at Baskent University: midterm results.

OBJECTIVE: Xenograft valved conduits have been used in several cardiac pathologies. In this study we have presented our midterm results of pediatric patients pathologies who were operated with xenograft conduits. PATIENTS AND METHODS: Between January 1999 and January 2005, 134 patients underwent open heart surgery with xenograft conduits. The conduits were used to establish the continuity of the right ventricle to the pulmonary artery or aorta, the left ventricle to the pulmonary artery, or aorta due to various types of complex cardiac anomalies. Patients were evaluated by transthoracic echocardiography (ECHO) at 6-month follow-ups. Cardiac catheterization was performed when ECHO demonstrated significant conduit failure. RESULTS: Hospital mortality was observed in 28 patients (20.1%), and 13 patients died upon follow-up (9.7%). Mean follow-up was 24.6 +/- 4 months (range, 13 to 85 months). Among 93 survivors 20 patients (21.5%) were reoperated due to conduit failure. The main reasons for conduit failure were stenosis (n=13), valvular regurgitation (n=2), or both conditions in 5 cases. Mean pulmonary gradient before conduit re-replacement was 47.7 +/- 30.1 mmHg. The 1-, 3-, and 6-year actuarial survival rates were 95 +/- 2%, 91 +/- 3%, and 86 +/- 5%. The 1-, 3-, and 6-year actuarial freedom rates from reoperation were 95 +/- 1%, 90 +/- 3%, and 86 +/- 4%. An increased gradient between the pulmonary artery and the right ventricle and prolonged cardiopulmonary bypass times were observed to be significant risk factors for reoperation. There was no mortality among reoperated patients. CONCLUSION: Xenograft conduits should be closely followed for calcification and stenosis. Conduit stenosis is the major risk factor for reoperation. In these patients, reoperation for conduit replacement can be performed safely before deterioration of cardiac performance.

Evaluation of the potential role of echocardiography in the detection of allograft rejection in heart transplant recipients.

PURPOSE: Our objective was to determine the most relevant systolic and diastolic echocardiographic parameters to detect left ventricular (LV) dysfunction associated with allograft rejection among heart transplant recipients. PATIENTS AND METHODS: Seven consecutive recipients underwent serial echocardiographic studies with two-dimensional spectral Doppler and tissue Doppler (TD) according to our institutional protocol. Results were compared with clinical status and endomyocardial biopsies (EMB) whenever available. RESULTS: The time since transplantation was 22 to 850 days. Patient no. 2 had a biopsy-proven acute rejection at the 11th week which was associated with decreased TD velocities, ejection fraction (EF), and stroke volume (SV), as well as increased pericardial effusion and posterior wall thickness. Interestingly, changes in TD parameters preceded those in EF and SV. However, similar but less remarkable changes in TD velocities, EF, SV, pericardial effusion, and posterior wall thickness also occurred during other events, such as systemic infection and immediate postoperative hemodynamic compromise despite no rejection. A biopsy performed 7 months later in a patient with a previous rejection episode due to a relatively low EF and SV as well as increasing pericardial effusion with normal TD velocities revealed no rejection. CONCLUSIONS: These data suggest that echocardiographic findings, although not specific for acute rejection, may play a potential role as a screening test to exclude rejection in heart transplant recipients.

Unusual and early hyperglycemia following amiodarone infusion in two infants.

Amiodarone is an effective antiarrhythmic agent that is widely used for tachyarrhythmias, especially ventricular tachycardia and supraventricular tachycardia. It has some mild short-term (e.g., skin rashes, gastrointestinal symptoms, and corneal microdeposits) and long-term side effects (thyroid dysfunction, visual disturbances, pulmonary infiltrates, ataxia, and hepatitis). We present two infants who had hyperglycemia following amiodarone infusion during the early postoperative period.

Systemic inflammatory response related to cardiopulmonary bypass and its modification by methyl prednisolone: high dose versus low dose.

The objective of our study was to investigate the safety and efficacy of high-dose methyl prednisolone (MP) in modifying the systemic inflammatory response (SIR) to cardiopulmonary bypass (CPB) and to compare its efficacy with low-dose MP in children undergoing cardiac surgery for congenital heart disease. Thirty children with congenital heart disease undergoing CPB were randomly assigned to two groups: group 1 (n = 15) received 30 mg/kg MP by an intravenous infusion for 30 minutes and group 2 (n = 15) received 2 mg/kg intravenously, before the onset of CPB. Postoperative clinical parameters were recorded, and serum interleukin (IL)-6 and 8 levels, acute phase reactants, and blood biochemistry were determined serially for both groups. In both groups plasma IL-6 and 8 levels were elevated above the preoperative levels at 2 and 24 hours after declamping. The peak levels were obtained at 2-hour samples. The difference between the two groups in terms of postoperative IL-6 and 8 levels was not statistically significant. C-reactive protein (CRP) levels and polymorphonuclear leukocyte counts, postoperative core temperature, duration of mechanical ventilation, period of stay in intensive care unit, oxygenation indices, and biochemical parameters of patients did not significantly differ in the two groups. Only 1 patient in group 1 had elevated liver enzymes, blood urea nitrogen, and creatinine in the postoperative period. No significant complications were observed due to treatment with high-dose MP. Although postoperative IL and CRP levels indicated a SIR in our patients, the clinical picture was apparently affected in only 1 patient and she was in the high-dose MP group. CPB initiates a SIR that is associated with an increase in neutrophil count, CRP, and IL-6 and 8 levels. High-dose (30 mg/kg) MP was not superior to low-dose (2 mg/kg) in blunting the SIR to CPB in pediatric patients undergoing open-heart surgery.

Activated protein C resistance and false type 2 protein C deficiency detected after multiple shunt failures in a patient with hydrocephalus.

A 2-year-old hydrocephalic boy who had suffered multiple shunt failures was evaluated for hypercoagulability after a thrombus was removed from his right atrium. The work-up revealed that the patient had the heterozygous form of activated protein C resistance and false type 2 protein C deficiency by the clotting method. His protein C activity was normal by the chromogenic method. We suggest that patients having hydrocephalus, shunt-associated thrombus formation, or both should be evaluated for thrombophilic disorders, and protein C activity should be measured by chromogenic assay in patients with documented activated protein C resistance.

One center's experience with remifentanil infusions for pediatric cardiac catheterization.

OBJECTIVE: To investigate the efficacy of a remifentanil infusion for pediatric cardiac catheterization. DESIGN: Prospective. SETTING: University hospital. PARTICIPANTS: Children undergoing cardiac catheterization (n = 55). INTERVENTIONS: All patients (age range, 2 months to 12 years) were premedicated with an oral mixture of hydroxyzine and midazolam 60 minutes before the procedure. A remifentanil infusion was initiated at 0.1 microg/kg/min before the start of cardiac catheterization. Noninvasive systolic blood pressure, heart rate, oxygen saturation (SpO(2)), respiratory rate, and sedation score were recorded before the remifentanil infusion and every 15 minutes thereafter throughout the procedure. Episodes of apnea, vomiting, pruritus, and muscle rigidity and recovery time were noted. MEASUREMENTS AND MAIN RESULTS: There were no significant changes in systolic blood pressure, heart rate, SpO(2), or respiratory rate during the procedure. The sedation scale scores at 30, 45, 60, 75, and 90 minutes of remifentanil infusion were significantly lower than the scores recorded at baseline and 15 minutes. In 23 patients, the remifentanil infusion maintained a satisfactory level of sedation, but 32 patients required additional drugs (18 received midazolam, and 14 received midazolam plus ketamine). Recovery was rapid after the remifentanil infusion was discontinued, with a mean time of 2.04 +/- 2.32 minutes to reach a recovery score of > or =5. Three patients experienced apnea after bolus doses of remifentanil, 1 patient vomited, and 1 patient complained of pruritus. CONCLUSION: In pediatric cases in which other intravenous analgesics and sedatives are contraindicated, remifentanil infusion appears to be a suitable alternative based on its associated rapid recovery and stable hemodynamics.

A family with Jeune syndrome.

Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short-limbed dwarfism. Seventy percent of affected individuals die in early childhood from pulmonary hypoplasia and respiratory distress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. We report a family that exhibited clinically heterogeneous features of Jeune syndrome. The 6-year-old male proband presented with skeletal deformities and chronic renal failure. A kidney biopsy revealed that nephronophthisis was the cause of the patient's kidney failure, and we diagnosed Jeune syndrome. A retrospective diagnosis of Jeune syndrome was also established for the proband's older sister, who had died of renal failure at 8 years of age. The oldest female child in the family also had thoracic deformity, and the father and paternal uncle were both of short stature and exhibited brachydactyly. Their renal function and blood pressure were normal. The findings in this family are important in that they demonstrate the clinical heterogeneity of Jeune syndrome and underline the association of renal disease with this syndrome.

The role of pulmonary artery anatomy in repair of tetralogy of Fallot.

Pulmonary artery anatomy is the key factor that determines the type of surgical treatment required in tetralogy of Fallot. Despite the fact that routine primary repair is now done on infants, inadequate pulmonary artery size can dictate the need for staged surgical repair in even the oldest age groups. From October 1986 to October 1998, 361 patients at our clinic underwent surgery to correct tetralogy of Fallot. A total of 292 cases were treated with primary repair, 69 surgeries were palliative, and 30 of these 69 underwent corrective surgery. The Nakata index was used as a pulmonary artery index (PAI), and PAI< 200 was the criterion for requirement of two-stage repair. Of the 30 patients that underwent staged repair, the Blalock-Taussig shunt (BTS) procedure was used in 24; the remaining six patients had right ventricular outflow tract reconstruction (RVOTR). The mean age of all the palliative surgery patients was 3.4 years (range 6 months to 11 years), and of those who received corrective surgery was 5.5 years (range 2-12 years). These patients' PAI values were 181 +/- 37.5 mm2/m2 and 359 +/- 130.7 mm2/m2, respectively. The period between the two operations ranged from two months to four years. Mortality rates were 2.8 percent for palliative surgery as a whole, 4.1 percent for primary repair, and 16.6 percent for staged repair. Our policy with regard to corrective surgery for tetralogy of Fallot is to do primary repair regardless of a patient's age and weight, except in cases where the pulmonary artery anatomy is appropriate for the patient's body size.

Occurrence of an aortic arch anomaly in two siblings born to a diabetic mother.

A patient with interruption of aortic arch type A, born to a diabetic mother, is described. The patient, a male infant, was the fourth child of a 29-year-old mother, and had a sibling with coarctation of the aorta. The mother had been treated for insulin-dependent diabetes mellitus for the previous 10 years. The infant died on the 3rd day of life after symptoms of cardiogenic shock. To our knowledge, interruption of aortic arch type A has not been previously described in infants of diabetic mothers. The relevance of the case is discussed and the literature reviewed.

Malformations Due to Warfarin: A Case Report.

We report a 5-month-old infant with severe growth retardation who was exposed to in utero warfarin for the first 4 months. She had a dysmorphic face with depressed nasal hypoplasia and low-set ears. Cranial computerized tomography revealed bifrontal atrophy, agenesis of corpus callosum, and dilation of lateral ventricles. In addition she had patent ductus arteriosus with pulmonary hypertension, which had to be ligated.

Evaluation by exercise testing of children with mild and moderate valvular aortic stenosis.

BACKGROUND: The aim of the present paper was to determine the factors related to sudden death in aortic stenosis. METHODS: The factors related to sudden death were investigated in 40 asymptomatic children with mild and moderate aortic stenosis by treadmill testing. RESULTS: The QT interval of aortic stenosis cases were significantly longer than those of healthy children with increasing heart rates during exercise. CONCLUSIONS: A longer QT interval of aortic stenosis cases compared to normal children during exercise is the first sign of myocardial ischemia and leads to fatal ventricular arrhythmias and sudden death. For this reason we recommend that exercise testing should be performed frequently in aortic stenosis patients and that close follow up is necessary for patients with long QT segments that can be a marker for severe arrhythmias.

Malnutrition and growth failure in cyanotic and acyanotic congenital heart disease with and without pulmonary hypertension.

AIM: To investigate the effect of several types of congenital heart disease (CHD) on nutrition and growth. PATIENTS AND METHODS: The prevalence of malnutrition and growth failure was investigated in 89 patients with CHD aged 1-45 months. They were grouped according to cardiac diagnosis: group aP (n = 26), acyanotic patients with pulmonary hypertension; group ap (n = 5), acyanotic patients without pulmonary hypertension; group cp (n = 42), cyanotic patients without pulmonary hypertension; and group cP (n = 16), cyanotic patients with pulmonary hypertension. Information on socioeconomic level, parental education status, birth weight and nutrition history, number of siblings, and the timing, quality, and quantity of nutrients ingested during weaning period and at the time of the examination were obtained through interviews with parents. RESULTS: There was no significant difference between groups in terms of parental education status, socioeconomic level, duration of breast feeding, and number of siblings (p > 0.05). Group cP patients ingested fewer nutrients for their age compared to other groups. 37 of the 89 patients were below the 5th centile for both weight and length, and 58 of 89 patients were below the 5th centile for weight. Mild or borderline malnutrition was more common in group aP patients. Most group cp patients were in normal nutritional state, and stunting was more common than wasting. Both moderate to severe malnutrition and failure to thrive were more common in group cP patients. CONCLUSION: Patients with CHD are prone to malnutrition and growth failure. Pulmonary hypertension appears to be the most important factor, and cyanotic patients with pulmonary hypertension are the ones most severely affected. This study shows the additive effects of hypoxia and pulmonary hypertension on nutrition and growth of children with CHD.

Anatomic correction in transposition of the great arteries with unusual coronary pattern and side-by-side location.

Switch operation is the treatment of choice in infants with transposition of the great arteries. The anatomic correction restores the left ventricle to its normal systemic function. In complete transposition, however, the diverse spectrum of coronary pattern influences the surgical outcome. We describe a successful arterial switch operation without LeCompte manoeuvre in a neonate with unusual coronary artery anatomy and side-by-side great arteries.

Effect of carnitine supplementation on cardiac function in hemodialyzed children.

Thirteen carnitine-deficient children (mean age, 16.1 +/- 2.56 years) on a three-times-weekly hemodialysis program for at least 1 year, and 11 healthy age matched children were involved in the study. All the patients had stable blood pressure and hemoglobin (Hb) levels with a maintenance dose of erythropoetin and none were digitalized. The total carnitine (TC) and free carnitine (FC) plasma levels were sampled prior to hemodialysis (HD) before and after 3 months of carnitine supplementation. A free carnitine (FC) to acylcarnitine (AC) ratio less than 4 was defined as carnitine deficiency. Intravenous L-carnitine was injected at a dose of 20-40 mg/kg three times weekly at the end of each dialysis session for a 3-month period. Echocardiographic examination was performed the day following HD, before and after carnitine treatment. Systolic and diastolic functions of the left ventricle, including the ejection fraction, were measured. Almost all the parameters were significantly different in controls and hemodialyzed patients. In carnitine-deficient hemodialyzed patients, 3 months of L-carnitine supplementation resulted in a significant increase in blood carnitine levels and the FC/AC ratio, but this was not associated with any significant improvement of cardiac function. Furthermore no significant changes were observed in plasma triglycerides, total cholesterol or other lipoprotein parameters before or after carnitine supplementation. Although there was a moderate increase in mean hematocrit (Hct) and Hb levels, these also did not reach statistically significant levels. These results suggest that the 3 months of carnitine supplementation is not sufficient to ameliorate cardiac function or increase Hb levels in children.