Selman Vefa Yildirim

Analysis of prothrombotic mutations and polymorphisms in children who developed thrombosis in the perioperative period of congenital cardiac surgery.

In this study, we investigated some of the prothrombothic mutations and polymorphisms in 15 children with congenital cardiac malformations who developed severe thrombosis in the perioperative period following surgical repair. The mutations and polymorphisms included in the study were Factor V Leiden, prothrombin G20210A, methylentetrahydrofolate reductase C677T, endothelial nitric oxide synthase intron 4 VNTR, alpha-fibrinogen Thr312Ala, Factor XIII Val34Leu, and insertion or deletion of angiotensin 1 converting enzyme. Compared to the healthy Turkish subjects, our patients had a similar rate of mutation of Factor V Leiden, Factor XIII Val34Leu, and endothelial nitric oxide synthase a/b polymorphisms, but higher frequency of the prothrombotic angiotensin 1 converting enzyme deletion/deletion genotype, and lower frequency of the antithrombotic alpha fibrinogen Thr/Thr genotype. None of the patients exhibited mutations involving prothrombin G20210A or methylentetrahydrofolate reductase C677T. The results of our study suggest that, in addition to prothrombotic mutations such as Factor V Leiden, single-nucleotide polymorphisms should be considered in all children with congenital cardiac malformations who develop thrombosis. Malformations of the heart are the most common of all serious lesions that are present at birth, with an incidence of 4 to 8 cases per 1,000 live births. If needed, corrective surgery is usually the optimal treatment for these anomalies, but perioperative morbidity and mortality still remain high due to several factors. Arterial or venous thrombosis, or both varieties of thrombosis, is among these factors. Prior to surgery, the most frequent time at which these children develop thrombosis is during cardiac catheterization. Postoperative thrombosis in this group of patients is a more complex disorder, which can affect both small and large vessels, and is associated with a high morbidity and mortality. Recent studies indicate that both point mutations and single-nucleotide polymorphisms of genes that encode proteins involved in the coagulative and anticoagulative cascades are important risk factors for development of thrombosis. Patients with these risk factors are most likely to develop thrombosis when triggering elements, such as placement of catheters, prolonged immobilization, or surgery, are also present. In this study, we investigated some of the above-mentioned mutations and polymorphisms in children who developed thrombosis in the perioperative period after correction of congenital cardiac malformations.

Oral versus intranasal midazolam premedication for infants during echocardiographic study

Movement and anxiety during echocardiographic study may reduce the reliability and affect the quality of echocardiographic images. Thus, sedation is an essential component when it is performed in infants. This randomized, single-blinded, placebo-controlled study was undertaken to evaluate the acceptability and effectiveness of intranasal midazolam (INM) versus oral midazolam (OM) in infants during transthoracic echocardiography. Eighty patients between the ages of 6 mo and 3 y who presented for elective echocardiographic study were divided into 3 groups: the OM group received 0.4 mg/kg of injectable midazolam mixed with an equal volume of cherry juice, the INM group received 0.2 mg/kg as drops, and the control group was given oral cherry juice or intranasal serum physiologic. A blinded clinician assessed and scored the level of sedation and comfort during the procedure for each child, and a score for ease of administration was recorded by the nurse. The intranasal route was more acceptable to infants than the oral route (P<.001). No significant difference in the effects of sedation was observed between the OM group and the INM group (P=.583), but significant differences were observed between the sedated groups and the control group (P<.001). The procedure was significantly more comfortable in groups given OM and INM than in the control group (P<.001). Although no difference in sedation score was seen between the oral and nasal routes, INM was better accepted by infants than OM. Echocardiography was performed more reliably and comfortably in those given midazolam than in those in the control group.

A case of achondroplasia with severe pulmonary hypertension due to obstructive sleep apnea

Achondroplasia is the most common skeletal dysplasia in children. Achondroplasic patients have a short cranial face and midface hypoplasia. They often have sleep-related respiratory disturbances that lead to hypoxemia caused by midfacial hypoplasia, a small upper airway, hypotonia of airway muscles, or brain stem compression. It has been well described that obstructive sleep apnea can cause pulmonary hypertension (PH) through the mechanism of chronic hypoxemia. However, severe PH due to obstructive-type sleep disorder is rare in patients with achondroplasia. In this report, we describe a 5-year-old girl with achondroplasia whose severe PH was caused by upper-airway obstruction and was resolved gradually after adenotonsillectomy.

Cytomegalovirus infection in a patient with atypical Kawasaki disease

Kawasaki disease (KD) is an acute, febrile, and multisystem vasculitis of early childhood with a striking predilection for the coronary arteries. The most significant complication is coronary artery abnormalities, including coronary aneurysms. The etiology of KD remains unknown. Many infectious agents including viruses have been postulated as possible causes of KD. But standard microbiologic techniques, molecular methods and serologic investigations have failed to identify an etiologic agent. We described a patient with atypical KD during cytomegalovirus infection.

Assessment of left ventricular diastolic function by Doppler tissue imaging in children with end-stage renal disease

AIM To evaluate left ventricular (LV) diastolic function in children with end-stage renal disease (ESRD) using conventional pulsed-Doppler echocardiography and Doppler tissue imaging (DTI), and to compare the findings with these two modalities. METHODS Twenty-four children with ESRD and 22 healthy age- and sex-matched control subjects were assessed with conventional Doppler echocardiography and DTI. The scans of the renal disease patients were done after a dialysis session. Parameters related to LV systolic and diastolic function were compared in the ESRD and control groups. RESULTS The ESRD patients had lower mean mitral E/A ratio both according to conventional Doppler echocardiography and TDI than the control subjects. The ESRD group also had significantly longer isovolumetric relaxation time (116+/-31 ms vs 97+/-3.1 ms, respectively; p<0.001), and significantly longer deceleration time (235+/-44 ms vs 202+/-35 ms, respectively; p<0.01) than the control group. CONCLUSION DTI findings correlate well with conventional Doppler echocardiography findings. Children with ESRD show, after dialysis, echocardiographic signs of LV diastolic dysfunction.

Clinical investigations over 13 years to establish the nature of the cardiac defects in patients having abnormalities of lateralization

INTRODUCTION The first step in diagnosing congenital cardiac malformations is to assess the arrangement of the atrial appendages. In patients with abnormal lateralization of the organs of the body, the arrangement of atrial appendages is neither normal, nor a mirror image of normal. There are 2 categories of abnormal arrangement based on the morphology of the atrial appendices, namely right isomerism and left isomerism, and in almost all instances these are found in the setting of so-called heterotaxy syndromes. OBJECTIVE To evaluate the various congenital cardiac malformations those are associated with abnormalities of lateralization, and to discuss the diagnostic tools, therapeutic options, and outcome for these patients. PATIENTS AND METHODS We studied 134 patients, who had been admitted to our department of paediatric cardiology with known abnormalities of lateralization and congenital cardiac defects between 1990 and 2003. The data relating to each patient was evaluated retrospectively. The arrangement of the atrial appendages was established echocardiographically, and/or angiographically, and/or on the basis of morphologic investigations during the operation. These studies showed that 43 (32.1%) of the patients had right isomerism, and 88 (65.7%) had left isomerism. In 2 (1.5%), there was mirror-imaged arrangement, while in the final patient (0.07%), we were unable to determine sidedness with certainty. The median age at diagnosis was 0.66 years, and the females outnumbered the males in a ratio of 3 to 1. Patients in the 2 isomeric groups were compared with regard to age, cardiac defects, diagnostic tools and outcomes. RESULTS The difference in mean ages of the two groups of patients was statistically significant, those with right isomerism being 1.0 minus or plus 1.5 years, as opposed to those with left isomerism being 3.3 minus or plus 4.7 years (P is less than 0.005). Of the patients with right isomerism, 32 (74.4%) had left-sided, and 11 (25.6%) right-sided hearts, whereas in those with left isomerism, the hearts were left-sided in 65 (73.9%), and right-sided in 21 (23.9%), with 2 (2.2%) positioned in the midline. Extracardiac totally anomalous pulmonary venous connection was more common in those with right isomerism, being found in 13 patients (30.2%) as opposed to 5 patients (5.7%) with left isomerism. In only 8 of those with right isomerism did we find two perforate atrioventricular valves (18.6%), this arrangement being found in 34 (38.6%) of those with left isomerism. Pulmonary atresia and stenosis were present in 40 (93.0%) of those with right isomerism, but also in 41 (46.6%) of the patients with left isomerism. Angiographic and echocardiographic investigations were concordant in about three-quarters of patients with both right and left isomerism. All patients with extracardiac totally anomalous pulmonary venous connection died. Overall, 22 of the patients with right isomerism died (51.2%), as opposed to 20 (22.7%) of those with left isomerism. CONCLUSION Our experience confirms that patients with right isomerism have more complex cardiac defects than those with left isomerism. Overall, the presence of isomerism carries a poor prognosis, the more so for right isomerism, with this related to the complex cardiac abnormalities. In our cohort, extracardiac totally anomalous pulmonary venous connection with pulmonary arterial obstruction was always a fatal combination. The mapping of cardiac and abdominal morphologies is still essential for proper diagnosis of these syndromes, especially in fetal life.

Frequency, origins and courses of anomalous coronary arteries in 607 Turkish children with tetralogy of Fallot.

BACKGROUND The aim of this study was to investigate the incidence, origins and courses of coronary artery anomalies using a combination of angiographic and surgical methods in Turkish children with tetralogy of Fallot (ToF). METHODS Seventy-seven patients in whom coronary artery anomalies had been identified by angiography and/or at operation out of 549 ToF and 58 Fallot-type double outlet right ventricle (total 607) patients, were enrolled in the study. RESULTS Coronary artery anomalies were identified in 12.7% of the patients. The incidence was 12.2% (67/549) in patients with aortic overriding 50%, and 17.2% (10/58) with aortic overriding 〉 50% (p 〉 0.05). The incidence of anomalous coronary arteries crossing the right ventricular outflow tract (RVOT) was 7.91%. The commonest anomaly was the left anterior descending artery (LAD) or accessory LAD arising from the right coronary artery (RCA; n = 25). Other frequent anomalies were single coronary ostium (n = 21) and enlarged conal branch of RCA (n = 18). In 62.3% (48/77) of the patients with a coronary anomaly, the anomalous vessels were crossing the RVOT. The ratio of crossing the RVOT was 92.0% for LAD arising from the RCA, 66.7% for conal branch, and 42.9% for single coronary ostium. CONCLUSIONS Two thirds of the anomalous coronary arteries were crossing the RVOT, and had surgical importance. The most frequent coronary artery anomaly that crossed the RVOT was the LAD or the accessory LAD arising from the RCA. Also, an enlarged conus artery should be considered as an anomaly because of its surgical importance, given its high rate of crossing the RVOT.

Proboscis lateralis: a case report

Proboscis lateralis is a rare facial anomaly resulting in incomplete formation of one side of the nose. We report a left-sided proboscis lateralis case of a 9 months old male with left-sided heminasal aplasia, microphthalmi, coloboma iris and retina and an arachnoid cyst in the temporal fossa of the brain. We present the clinical, radiological features of this unusual case.

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.

A recurrent aphthous stomatitis case due to paediatric Behçet's disease

Behçets disease is a rare condition in children and characterized by a triad of recurrent aphthous stomatitis, genital ulceration and uveitis. The aetiology is unknown, but systemic vasculitis is the main pathology. The oral lesions resemble Sutton disease, which is another form of recurrent aphthous stomatitis (RAS) that composes approximately 10 per cent of cases and is known as major aphthous stomatitis, can easily be overlooked if the other symptoms are not questioned. We presented a 12-year-old girl with the initial complaint of recurrent aphthous stomatitis. During the follow-up period, we observed the other cardinal signs of the Behçets disease.