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Since its description in 1965, distal 10q trisomy has become recognised as a well defined, although rare syndrome, almost always the result of an unbalanced translocation. Typical features consist of psychomotor delay, a distinctive dysmorphic appearance, growth retardation, and, in some cases, cardiac, renal, and ocular abnormalities.
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Congenitally corrected transposition of the great arteries (CTGA) is an uncommon congenital cardiac anomaly. Prenatal sonographic diagnosis of CTGA is very difficult because the ventricular outflow tract may appear to arise correctly from the right and left ventricles. Few cases of CTGA diagnosed in utero have been reported. We report a case of CTGA with complete heart block, ventricular septal defect and pulmonary valve stenosis diagnosed at 30 weeks' gestation after the mother was referred to our hospital because of persistent fetal bradycardia.
The echocardiographic findings and clinical courses in 19 fetuses with marked cardiomegaly [heart length, width, area, cardiothoracic ratio, heart/thoracic area (CTA) ratio > 2 SD] were reviewed. An abnormal heart was the reason for referral in 16 cases of 19 (84.2%). The mean gestational age was 31.5 weeks at detection. Intracardiac hemodynamics were studied using pulsed, color, and M-Mode color Doppler. Despite the heterogeneous etiology of marked cardiomegaly (5 Ebstein's anomalies, 5 tricuspid valve dysplasias, 3 dilatative cardiomyopathies and 6 miscellaneous) a holosystolic tricuspid regurgitation with right atrial enlargement was found in 17 of the 19 cases (89.4%) as a common pathogenetic feature. A hydrops was found in 10 cases (52.6%). Besides 1 elective legal abortion, a high mortality rate of 83.3% was observed in the group followed up (6 intrauterine and 9 neonatal deaths). Among the cardiac measurements the CTA ratio seemed to correlate with fetal outcome, since all three survivors had the lowest values and all fetuses with CTA ratio > 0.6 showed a lung hypoplasia as a sequel of compression by cardiac enlargement. The presence or the development of hydrops, an obstruction of the right ventricular outflow tract, and the lung hypoplasia could be considered as signs of poor prognosis. A reliable differentiation between a patent pulmonary valve, pulmonary stenosis and pulmonary atresia in severe tricuspid regurgitation using modern Doppler means is difficult as seen in our studied group and in the literature.(ABSTRACT TRUNCATED AT 250 WORDS)
BACKGROUND: Cytogenetic evidence suggests that the haploinsufficiency of > or =1 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, atrioventricular canal defects, and pulmonary valve stenosis. An 8p heart-defect-critical region was delineated, and the zinc finger transcription factor GATA4 was considered a likely candidate for these defects. We narrowed this region and excluded a major role of GATA4 in these CHDs. METHODS AND RESULTS: We studied 12 patients (7 had CHD and 5 did not) with distal 8p deletions from 9 families by defining their chromosome rearrangements at the molecular level by fluorescent in situ hybridization and short-tandem repeat analysis. Subjects with 8p deletions distal to D8S1706, at approximately 10 cM from the 8p telomere, did not have CHD, whereas subjects with a deletion that included the more proximal region suffered from the spectrum of heart defects reported in patients with 8p distal deletions. The 5-cM critical region is flanked distally by D8S1706 and WI-8327, both at approximately 10 cM, and proximally by D8S1825, at 15 cM. Neither GATA4 nor angiopoietin-2 (ANGPT2; a gene in 8p23 involved in blood vessel formation) were found to be deleted in some of the critical patients. We also found that CHDs are not related to the parental origin of deletion. CONCLUSIONS: Haploinsufficiency for a gene between WI-8327 and D8S1825 is critical for heart development. A causal relationship does not seem to exist between GATA4 and ANGPT2 haploinsufficiency and CHDs.
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A method for the detection and quantification of left-to-right intracardiac shunts is described which utilizes a single breath inhalation of oxygen-15 labeled carbon dioxide (C15O2). The inhaled gas rapidly crosses the alveolar membrane and the oxygen-15 label is exchanged through the carbonate cycle to form oxygen-15 labeled water within the pulmonary capillary blood. Pulmonary indicator clearance curves are measured by external scintillation probes. A simplified method of shunt flow quantification was developed from indicator dilution principles and used for the analysis of the clearance curves. Inhalation studies were performed with 62 children on the day prior to cardiac catheterization. The presence or absence of left-to-right shunt was confirmed by contrast angiography in all cases. Twenty-six children were found to have no shunts by C15O2 inhalation, oximetry or angiography. Of the 36 with shunts, 34 were detected by C15O2. Two of these were designated as equivocal because they were considered to be less than the threshold of definitive detection by C15O2 (having Qp/Qs less than 1.2); 32 were positive and there were two false negatives with small ventricular septal defects. There were no false positives by C15O2. The correlation coefficient between C15O2 and oximetry values of shunt flow for those patients with proven shunts was 0.82.
Quantitation of left-to-right shunts was determined noninvasively from the pulmonary clearance pattern of inhaled 15oxygen-labeled carbon dioxide (C15O2). After a single breath inhalation of C15O2, counts over the lungs were obtained from sequential 0.5 sec positron camera images. In 21 patients without left-to-right shunts, counts declined exponentially due to the washout of C15O2 by the pulmonary blood flow. In 22 patients with left-to-right shunts, this monoexponential pulmonary clearance pattern was interrupted by an abnormal upward deviation, indicating tracer recirculation through the shunt to the lungs. Following surgical shung closure in 10 patients, pulmonary C15O2 clearance patterns became normal in nine and showed a small residual left-to-right shunt in one. Shunt size was derived from the ratio of the height of the recirculation curve to the height of the initial inhalation peak. These values significantly correlated with shunt size as determined by oximetry (r = 0.83).
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We evaluated mRNA expression of the heat shock protein gene, Hsp70-1, by means of a semiquantitative RT-PCR in atrial tissue specimens from pediatric patients collected before and after cardiopulmonary bypass surgery for congenital heart diseases, to see whether surgical stress may affect the expression level of this mRNA. We studied thirty nine pediatric patients (aged 3 months to 15 years) undergoing surgical correction of congenital heart malformation. Twenty-one patients were affected by the tetralogy of Fallot, two by combined atrioventricular septal defects, six by ventricular septal defect, three by atrial septal defect, two by atrioventricular canal defect, two by pulmonary valve stenosis, one by mitral insufficiency, and one by double-outlet right ventricle. Our results showed no significant changes in the Hsp70-1 mRNA expression in atrial tissue of patients before and after cross-clamping (the mean relative expression after cross-clamping was 1.0+/-0.6 compared to the baseline value). Furthermore, no significant correlations were observed between cross-clamping time and temperature, cardiopulmonary bypass time and mRNA variation. Our study suggests that, during cardioplegia, myocardial tissue does not have an appropriate adaptive response to surgical stress.
Adenosine effects on the transmembrane potential characteristics and the sarcolemmal Na+-K+ ATPase activity of human atrial myocardium were studied in tissue from 20 patients who were divided into 2 groups based on the maximum diastolic potentials (MDP) greater than or less than -60 mV. Group A consisted of 10 patients with MDP of 70.84 +/- 4.20 mV and Na+-K+ ATPase activity of 15.37 +/- 0.46 mumole Pi/mg/hr. Ten patients with MDP of 44.54 +/- 6.24 mV and Na+-K+ ATPase activity of 12.55 +/- 0.42 mumole Pi/mg/hr were included in group B. Adenosine had no effects on the electrophysiological properties and the sarcolemmal Na+-K+ ATPase activity of atrial myocardium at concentrations below 1 X 10(-5) M in either group. Adenosine resulted in mildly altered atrial transmembranes potentials without significant effect on Na+-K+ ATPase activity at concentrations between 1 X 10(-5) M and 5 X 10(-4) M. However, a significant reduction of transmembrane potentials and an apparent inhibition of Na+-K+ ATPase activity were observed only in tissue from group B. These results suggest that: 1) adenosine has no effect on the electrophysiological properties and the sarcolemmal Na+-K+ ATPase activity of human atrial myocardium at physiological concentrations; 2) adenosine induced inhibition of the sarcolemmal Na+-K+ ATPase activity in slow channel-dependent atrial tissues may be a mechanism responsible for the alterations of transmembrane potentials under unphysiological conditions; and 3) adenosine contributes to the genesis of cardiac arrhythmias during acute myocardial ischemia, which can reduce transmembrane potentials of the myocardial cells and may increase the myocardial adenosine level above its effective concentration.
BACKGROUND: Tele-echocardiography has the potential to bring real-time diagnoses to neonatal facilities without in-house pediatric cardiologists. Many neonates in rural areas, smaller cities, and community hospitals do not have immediate access to pediatric sonographers or echocardiogram interpretation by pediatric cardiologists. This can result in suboptimal echocardiogram quality, delay in initiation of medical intervention, unnecessary patient transport, and increased medical expenditures. Telemedicine has been used with increased frequency to improve efficiency of pediatric cardiology care in hospitals that are not served by pediatric cardiologists. Initial reports suggest that telecardiology is accurate, improves patient care, is cost-effective, enhances echocardiogram quality, and prevents unnecessary transports of neonates in locations that are not served by pediatric cardiologists. OBJECTIVE: We report the largest series to evaluate the impact of telemedicine on delivery of pediatric cardiac care in community hospitals. We hypothesized that live telemedicine guidance and interpretation of neonatal echocardiograms from community hospitals is accurate, improves patient care, enhances sonographer proficiency, allows for more efficient physician time management, increases patient referrals, and does not result in increased utilization of echocardiography. METHODS: Using desktop videoconferencing computers, pediatric cardiologists guided and interpreted pediatric echocardiograms from 2 community hospital nurseries 15 miles from a tertiary care center. Studies were transmitted in real-time using the H.320 videoconferencing protocol over 3 integrated services digital network lines (384 kilobits per second). This resulted in a frame rate of 23 to 30 frames per second. Sonographers who primarily scanned adult patients but had received additional training in echocardiography of infants performed the echocardiograms. Additional views were suggested as deemed necessary by the interpreting physician, and interpretations were made during the videoconference. The results of the echocardiogram and recommendations for patient care were communicated to the referring physician over the telemedicine system. Analyses of accuracy, patient treatment, echocardiogram quality, time to diagnosis, pediatric cardiologist practice time management, patient referral patterns, and echocardiography utilization were conducted prospectively. RESULTS: A total of 500 studies in 364 patients were transmitted during a 30-month period. The most common indication for echocardiography was to rule out congenital heart disease (208 of 500 studies). Signs and symptoms that prompted this concern included cyanosis, murmur, tachypnea, genetic syndrome, arrhythmia, abnormal fetal echocardiogram, and maternal diabetes. Other indications included suspected patent ductus arteriosus (PDA; 182 of 500 studies), intracardiac clot or catheter position, persistent pulmonary hypertension, and hemodynamic instability. Cardiac diagnoses included complex congenital heart disease (n = 16), noncritical heart disease (n = 107), and PDA (n = 86). Additional diagnoses included persistent pulmonary hypertension (n = 12), septal hypertrophy (n = 18), right atrial mass/clot/vegetation (n = 11), and decreased cardiac function (n = 6). An umbilical venous catheter was visualized in the left atrium in 9% (45 of 500) of all studies. No significant abnormalities were found in 244 studies. Major diagnoses were confirmed by subsequent review of videotape in all studies. Comparison of final videotape interpretation to initial telemedicine diagnosis resulted in 1 minor diagnostic change (membranous versus inlet ventricular septal defect). Echocardiograms were performed in subsequent visits in 264 patients. The diagnosis was altered in 3 patients. Telemedicine had an immediate impact on patient care in 151 transmissions. The most common interventions were indomethacin treatment for PDA (n = 76), retraction of umbilical venous catheters from the left atrium (n = 45), inotropic or anticongestive therapy (n = 19), anticoagulation (n = 8), and prostaglandin infusion (n = 8). Nineteen patients were transported to our hospital because of the telemedicine diagnosis. Inpatient or outpatient cardiology follow-up was recommended in an additional 131 studies and did not result in any change in the initial management. The most common diagnoses in these patients were ventricular septal defect (n = 56), atrial septal defect (n = 21), septal hypertrophy (n = 9), intracardiac thrombosis (n = 8), and pulmonary valve stenosis (n = 4). We speculate that the immediate availability of an echocardiographic diagnosis likely prevented unnecessary transport in 14 cases. Recommendations for additional views or adjustment of echocardiography machine settings were made in 95% of transmissions. Real-time guidance was especially helpful in suprasternal notch and subcostal sagittal imaging. Depth, color Doppler sector size, and color Doppler scale were frequently adjusted from routine adult settings during the teleconference. The average time from request for echocardiogram to completion of the videoconference was 28 +/- 14 minutes. This was significantly shorter than the waiting time (12 +/- 16 hours) for the videotape to be delivered by courier. Telemedicine eliminated the need for consultation in 194 cases and allowed the cardiologist to delay the visit until the end of the day in an additional 26 cases. This resulted in average time savings of 4.2 person-hours/wk based on travel and consultation time. Utilization of echocardiography was similar before (35 of 1000 births) and after (33 of 1000 to 43 of 1000) telemedicine installation. The percentage of neonatal echocardiograms that were interpreted by our practice increased from 63% to 81% at 1 hospital and from 0% to 100% at the other hospital. CONCLUSION: Real-time transmission of neonatal echocardiograms from community hospitals over 3 integrated services digital network lines is accurate and has the potential to improve patient care, enhance echocardiogram quality, aid sonographer education, and have a positive impact on referral patterns and time management without increasing the utilization of echocardiography.
OBJECTIVES: To analyze the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) database from 1982 to 2002 to determine the frequency and distribution of congenital heart disease (CHD) found in this population, to review the literature for previously published accounts of CHD in this population, and to review current genotype-phenotype associations for cri du chat (CDC) syndrome with CHD. METHODS: We performed a retrospective review of the 98422 CHD cases submitted to the PCCC between 1982 and 2002, to find patients who had a noncardiac diagnosis of CDC syndrome. RESULTS: A total of 21 patients (15 female and 6 male patients) were identified. Although some patients had multiple cardiac anomalies, they were categorized according to primary diagnoses on the basis of the most hemodynamically significant component. The patient groups were ventricular septal defect (n = 6), patent ductus arteriosus (n = 6), tetralogy of Fallot (n = 5), pulmonary valve atresia with ventricular septal defect (n = 2), pulmonary valve stenosis (n = 1), and double-outlet right ventricle (n = 1). Eighteen of the 21 patients underwent surgical repair of their defects. There was 1 late operative death. To determine whether the observed frequency of these cardiac defects among patients with CDC syndrome was comparable to that of the general population of patients with CHD, data for all cases submitted to the PCCC from 1982 to 2002 were used. Use of these numbers to determine expected frequencies for these defects showed significantly greater proportions of patients with these specific lesions among the patients with CDC syndrome. CONCLUSIONS: Currently there is no clear understanding of the genomic cause of the prevalence of these defects in the population with CDC syndrome, although CHD has been noted among patients with other deletion syndromes.
OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and Doppler echocardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.