An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy.

Two sibs from an inbred Arab family are described with an autosomal syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. In one case the syndrome described was lethal. Cases with similar features are reviewed and genetic mutations discussed.

Comparison between the safety profile and clinical results of the Cook detachable and Gianturco coils for transcatheter closure of patent ductus arteriosus in 272 patients.

OBJECTIVES: We evaluated the occlusion rate and safety of Cook detachable coils versus Gianturco coils in transcatheter closure of patent ductus arteriosus (PDA). BACKGROUND: The Cook detachable coil recently was introduced in an attempt to improve the safety of transcatheter closure of PDA. METHODS: Between January 1994 and September 1998, 272 patients underwent transcatheter PDA closure. Cook detachable coils were used in 137 patients, with a mean age of 43.9 months and weight of 13.8 kg. In 135 patients, Gianturco coils were used, with a mean age of 56.8 months and weight of 17.8 kg. The mean narrowest diameter of the PDA in the Cook detachable coil group was 2.85 mm versus 2.32 mm for the Gianturco coil group. RESULTS: The Cook detachable coil group was younger and weighed less than the Gianturco group (P < 0.05 and 0.02, respectively). Their narrowest PDA diameter was larger (P < 0.01). Embolization rate was significantly lower in the Cook coil group (9[6.5%] of 137 vs 22 (16.3%) of 135; P = < 0.013). The mean follow-up for the Cook coil group was significantly shorter (0.55 years) than for the Gianturco coil group (1.18 years; P < 0.001). On an intention-to-treat basis, complete occlusion by echocardiography was achieved in 99 (72.3%) of 137 patients in the Cook detachable coil group, which was significantly less than the Gianturco coil group (114 [84.4%] of 135; P = 0.008). CONCLUSION: Cook detachable coils for transcatheter closures of the PDA are safer than Gianturco coils. Hence, children with large ductal can be treated earlier in life. Short-term complete occlusion rate was lower in the Cook detachable coil group. This rate can be explained by a shorter follow-up time, larger ductal diameter, and the different materials used for the detachable coils.

Isolated connection of the right superior caval vein to the left atrium: non-invasive neonatal diagnosis.

Isolated anomalous drainage of the right superior caval vein to the left atrium is a very rare cause of cyanosis in the newborn. Herein, the cross-sectional echocardiography and colour Doppler findings of this malformation are described.

Differences in dose scheduling as a factor in the etiology of anthracycline-induced cardiotoxicity in Ewing sarcoma patients.

Clinical observation suggested a high prevalence of cardiac morbidity and mortality in children with Ewing sarcoma (ES) treated at B.C.'s Children's Hospital. We therefore compared 30 patients treated for Ewing sarcoma between 1978 and 1991 with 26 soft tissue sarcoma (STS) patients treated with similar chemotherapy over the same period of time. All patients were evaluated for cardiac function using echocardiography. Shortening fraction (SF) and left ventricular mass index (Massl) were compared before and after treatment. The role of chest irradiation, dose concentration (DC) of adriamycin (AD), total mean doses of AD, cyclophosphamide (CY) and actinomycin (AC) were analysed. SF for patients with ES and STS postchemotherapy was significantly lower (P < .001 and P = 0.0004, respectively) than pretreatment values. Postchemotherapy SF for ES was lower than STS (P = 0.0097). Massl for each group did not change significantly. Six of the ES patients had postchemotherapy SF of < 0.20, with three in congestive failure, two cardiac deaths and one heart transplant. One additional ES patient had sick sinus syndrome and needed a pacemaker. Among the STS patients only one had SF < .20 and none were symptomatic. There were no significant differences in the mean AD, CY and AC doses for ES versus STS. The difference in the DC of AD for ES (mean 744) compared to STS (mean = 362) was significant (P = < 0.001). Regression analysis indicated a trend for decreasing SF with increasing DC (P = 0.017). Chest irradiation did not appear to increase the likelihood of cardiotoxicity. ES patients had a higher prevalence of cardiac dysfunction compared to STS. Studies are required to evaluate the importance of the components of DC, i.e., size of the individual dose and frequency of administration of AD, and to look at other possible factors in the causation of cardiomyopathy in ES.

Medium-term results of experimental stent implantation into the ductus arteriosus.

Balloon dilation is disappointing in maintaining patency of the arterial duct. In neonatal lambs, stent implantation in the arterial duct results in significantly larger ducts with greater pulmonary blood flow than balloon dilation. Little is known, however, about the duration of duct patency after stent implantation. The outcome of stent implantation into the arterial duct in 12 lambs was observed over a period of 1 to 24 months. Stents (Wallstent in 9, Tower stent in 3) were implanted after recanalizing the occluded duct at 2 to 7 days of age. Heparin was given only during the procedure, but no further anticoagulants were used. Angiographic or postmortem evaluations were made at 1, 1.5, 2, 3, 4, 6, 12, 16, and 21 months in a subgroup of 9 lambs who did not undergo reinterventions. The duct was patent in all these except for one studied at 16 months. Neointima initially developed in the center of the stent before extending toward the orifices, eventually burying the metal strands in contact with the wall. From 4 to 6 months onward stenoses were present inside some of the stents. When the stent did not protrude into the aorta, neointima extended over the duct orifice. Metal strands that were not in contact with the duct wall were incompletely covered with endothelial cells, platelets, and fibrin strands, but no thrombi were noted. Late balloon dilation of the stented duct was performed in two lambs increasing the pulmonary artery blood flow. In one lamb the neointimal lining was successfully removed at 14 months with an atherectomy catheter. Stent implantation into the arterial duct can maintain patency up to 21 months and could be considered as an alternative to neonatal systemic to pulmonary artery shunt operations. Neointimal proliferation and stenosis formation, however, is a major limitation that may eventually lead to a reduction in the pulmonary artery blood flow.

Role of transesophageal echocardiography in the management of aortic-left ventricular tunnel.

A 10-year-old patient has been followed for 10 years after repair of an aortic-left ventricular tunnel (ALVT) for residual aortic regurgitation and significant recurrent leak through the ALVT. Transesophageal echocardiography (TEE) was done prior to surgery and intraoperatively to (1) clarify the precise anatomy of the ALVT, (2) evaluate the degree of aortic regurgitation, and (3) assess the repair. Delineation of the anatomy of the ALVT and assessment of the residual aortic insufficiency helped with the intraoperative decision-making. We describe the TEE findings of a residual ALVT in this patient and discuss the role of TEE in managing the lesion.

Histological changes in the left and right ventricle in hearts with Ebstein's malformation and tricuspid valvar dysplasia: A morphometric study of patients dying in the fetal and perinatal periods.

Both Ebstein's malformation and the related tricuspid valvar dysplasia are often associated with tricuspid regurgitation, and impaired right ventricular function may develop. Impaired function of the left ventricle in Ebstein's malformation has also been described. Interstitial fibrosis has been shown in the right and left ventricles of hearts with Ebstein's malformation from neonates, children, and adults. The objective of this study was to determine whether interstitial fibrosis seen in Ebstein's malformation is an intrinsic part of the congenital malformation or is acquired. From the fetal and perinatal periods, we compared 13 hearts with Ebstein's malformation (6 isolated and 7 with additional abnormalities) and 11 with tricuspid valvar dysplasia (3 isolated and 8 with additional abnormalities) with 16 controls. Three adult cases of isolated Ebstein's malformation in patients aged 17 to 20 years, were compared with 5 controls. The percentage of interstitial fibrous tissue and the thickness of the endocardium in the right and left ventricles were measured using histomorphometry. There were similar findings in Ebstein's malformation and tricuspid valvar dysplasia. Of 24 fetal and perinatal cases, 23 had normal interstitial fibrous tissue. Interstitial fibrosis was found in the right ventricle of only 1 perinatal heart with Ebstein's malformation and pulmonary stenosis. Of the 9 fetal cases, 4 had minimal right ventricular endocardial thickening (up to 10 µm). The left ventricular endocardium was normal in this group. Of the 6 perinatal cases with isolated Ebstein's malformation or tricuspid valvar dysplasia, 4 had right and 2 had left ventricular endocardial thickening (up to 345 µm). Of the 3 adult hearts with Ebstein's malformation, 2 had right ventricular endocardial thickening (47 and 225 µm) and 2 had right and 1 had left ventricular interstitial fibrosis. These results indicate that in both Ebstein's malformation and tricuspid valvar dysplasia the endocardial thickening develops in perinatal life, and in Ebstein's malformation the interstitial fibrosis develops in later life.

Technique of percutaneous laser-assisted valve dilatation for valvar atresia in congenital heart disease.

OBJECTIVE: To investigate the efficacy and safety of transcatheter laser-assisted valve dilatation for atretic valves in children with congenital heart disease. DESIGN: Prospective clinical study. SETTING: Supraregional paediatric cardiology centre. SUBJECTS: Eleven children (aged 1 day-11 years; weight 2.1-35.7 kg) with atresia of pulmonary (10) or tricuspid (one) valve underwent attempted laser-assisted valve dilatation as part of the staged treatment of their cyanotic heart disease. INTERVENTION: After delineating the atretic valve by angiography and/or echocardiography a 0.018 inch "hot tip" laser wire was used to perforate the atretic valve. Subsequently the valve was dilated with conventional balloon dilatation catheters up to the valve annulus diameter. RESULTS: Laser-assisted valve dilatation was successfully accomplished in nine children. In two neonates with pulmonary valve atresia, intact ventricular septum, and coexistent infundibular atresia the procedure resulted in cardiac tamponade: one died immediately and one later at surgery. During a follow up of 1-17 months (mean 11) two infants with pulmonary valve atresia and intact ventricular septum died (one with congestive cardiac failure). The remainder are either well palliated and do not require further procedures (three), or are awaiting further transcatheter or surgical procedures because of associated defects (four). CONCLUSIONS: Laser-assisted valve dilatation is a promising adjunct to surgery in this high risk group of patients. It may avoid surgery in some patients, and may reduce the number of surgical procedures in those requiring staged operations.

Magnetic resonance imaging of hearts with atrioventricular valve atresia or double inlet ventricle.

OBJECTIVE: To investigate the effectiveness and limitations of magnetic resonance imaging in defining cardiac anatomy in patients with double inlet ventricle or atrioventricular valve atresia. DESIGN: Magnetic resonance images were reviewed retrospectively without reference to other morphological data. SETTING: A tertiary referral centre for paediatric cardiology. PATIENTS: 18 patients (aged 8 days to 27 years) with a suspected univentricular atrioventricular connection. METHODS: Imaging by a 1.5 T whole body magnetic resonance system with imaging planes adjusted to individual patient anatomy to best define the cardiac morphology. A complete sequential diagnosis obtained from an independent interpretation of the images was compared with the diagnosis obtained from cross sectional echocardiography and angiocardiography. RESULTS: There was substantial accord between the diagnosis from magnetic resonance alone and that from other methods. In the six instances where there was not accord the magnetic resonance diagnosis was considered to be correct in two cases and incorrect in three cases. In the remaining case no consensus could be reached. In eight patients magnetic resonance imaging provided anatomical information additional to that from other methods. The strengths of magnetic resonance were in imaging the pulmonary arteries and their abnormalities and identifying juxtaposed atrial appendanges but there were some deficiencies in identifying Blalock-Taussig shunts. CONCLUSION: Magnetic resonance imaging provided detailed information about all aspects of cardiac morphology in patients with a suspected diagnosis of univentricular atrioventricular connection. Often it provided additional information to echocardiography. Its use in selected patients should give valuable complementary information.

Countercurrent aortography: an alternative to cardiac catheterization in infancy.

Countercurrent aortography via a peripheral artery was used to clarify the aortic arch anatomy in 25 infants in whom cross-sectional and Doppler evaluation was inconclusive. Ages ranged from 3 days to 11 months (median 9 days), and 80% were neonates. The suspected diagnosis was aortic coarctation in 21 infants, interrupted aortic arch in two, recoarctation in one, and vascular ring in one. A countercurrent aortogram provided adequate diagnostic information in 24 infants. A diagnosis of coarctation was confirmed in 15, interruption of the aortic arch in two, and vascular ring in one. In six infants countercurrent aortography excluded the presence of anomalies of the aortic arch. In only one infant, who had an anomalous origin of the right subclavian artery from the descending aorta, did this technique fail to provide adequate information. The only complication observed was transient ischemia of the arm in one patient. Countercurrent aortography is a minimally invasive procedure that can provide adequate angiographic information without the need for cardiac catheterization in patients with inconclusive echocardiographic evaluation. Injection into a right upper limb artery is preferred, because it gives better opacification of the ascending and transverse aortic arch than injection into a left one.