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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.

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.

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.