Variants of Callous-unemotional traits in childhood: investigation of attachment profile and hostile attribution bias.

There is increasing evidence of interest in describing two variants of CallousUnemotional (CU) traits based on high (secondary variant) or low (primary variant) levels of anxiety. However, studies are limited in childhood. The present study aimed to further the understanding of the variants, specifically in association with hostile attribution bias (HAB) and attachment. In a community sample of children aged 4 to 9 (N = 70), the study examined whether anxiety moderated the association of CU traits with HAB, secure and disorganized attachment representations. Hierarchical regression analyses revealed that CU traits were positively associated with disorganized attachment, regardless of the anxiety level. In contrast, CU traits were not associated with secure attachment. A significant interaction revealed that CU traits were positively associated with HAB only at high levels of anxiety. Implications for understanding the variants of CU traits and hypotheses regarding their developmental trajectories are discussed.

Comparison of tibial anatomical-mechanical axis angle between predisposed dogs and dogs at low risk for cranial cruciate ligament rupture.

The purpose of this prospective, radiographic, descriptive study was to compare measurements of tibial anatomical-mechanical axis angle (AMA-angle), tibial plateau angle (TPA), relative tibial tuberosity width (rTTW) and Z-angle from mediolateral radiographs of the tibia between two canine breeds (72 dogs) not predisposed to cranial cruciate ligament rupture (CCLR) and those from a consecutive series of 185 large dogs and 17 West Highland white terriers (WHWT) diagnosed with unilateral, surgically confirmed CCLR. Correlations among these measurements were determined, and levels of inter- and intra-observer variability among and within three observers for each measurement were established using Kendall's coefficient of concordance. Breed had a significant effect on AMA-angle. The median AMA-angle of the subject population of large dogs affected by CCLR was 2.80° (range 1.09°-5.21°); for the WHWT, it was 6.34° (range 5.68°-8.88°); and for the clinically normal dogs, it was 0.74° (range 0.00°-5.40°). In the CCLR group, AMA-angle and TPA were strongly correlated (r=0.745; p<0.0001). A receiver operating characteristic (ROC) curve analysis showed that an AMA-angle higher than 1.87° had a sensitivity of 0.941 (95% confidence interval [CI]: 0.898-0.966) and a specificity of 0.965 (95% CI: 0.919-0.987) for predicting CCLR and was more accurate than TPA, rTTW and Z-angle at predicting CCLR (p<0.0001). Good inter- and intra-observer agreement was found for all measurements. The highly significant difference in AMA-angle found between clinically normal dogs and dogs with CCL injury suggests that AMA-angle magnitude may be a clinically relevant predisposing factor for the development of canine CCLR.

Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).

A family with several cases of severe cardiomyopathy and moderate myopathy is described, affecting two brothers and their cousin as well as their mothers. One boy died of sudden cardiac arrest at 17 years of age. The two brothers were treated with an implantable defibrillator and their mother died suddenly at 40 years of age. Muscle biopsy in males showed vacuolar myopathy in two cases, and no abnormality on standard staining in the third case. Cardiac biopsies showed hypertrophic and vacuolated fibres. Complete absence of LAMP-2 was demonstrated by immunohistochemistry on the vacuolated skeletal and cardiac muscle, but also on the morphologically normal skeletal muscle. Sequencing of LAMP-2 gene showed a novel S157X mutation in exon 4. Danon disease is a rare and potentially lethal cause of hypertrophic cardiomyopathy. Diagnosis can be made by immunohistochemistry performed on cardiac or muscle biopsy, and confirmed by genetic analysis, which also allows for easy family screening and counselling.

Wide complex tachycardia and congenital heart disease.

We present a patient with congenital heart disease and haemodynamically poorly tolerated wide QRS tachycardia. Differential diagnosis and therapy are discussed. After the patient underwent heart transplantation, and the substrates for ECG abnormalities and arrhythmias were demonstrated in the explanted heart.

Surgery for aortic coarctation: a 30 years experience.

OBJECTIVE: A retrospective study to review the experience of a single center with surgery for aortic coarctation over a period of 30 years (1970-1999). METHODS: Criteria for inclusion: (a) aortic coarctation, isolated or associated with congenital heart defect; (b) surgery between 1970 and 1999. Data recorded: (1) date of surgery; (2) age at surgery; (3) associated lesions; (4) surgical technique; (5) simultaneous surgical procedures; (6) early and late surgical results in term of: (a) deaths; (b) need for reoperation because of re-coarctation or other cardiac lesion; (c) residual/recurrent pressure gradient, evaluated at cuff/Doppler at rest; (d) systemic hypertension, requiring medical treatment. RESULTS: One hundred and forty-one patients underwent surgery for aortic coarctation: 30 neonates, 29 infants, 45 children and 37 adults. Associated lesions were found in 8/37 (=21.6%) adults and in 73/104 (=70.1%) pediatric patients. There were no hospital deaths. During the follow-up there were one late death in the adults group (1/37=2.7%) and three late deaths in the pediatric group (3/104=2.9%), all unrelated with aortic coarctation. Re-operation because of re-coarctation occurred only in ten late survivors of the pediatric group (10/101=9.9%), 9/10 operated on before 1980 (P<0.00001). End-to-end anastomosis, enlarged to the aortic arch in neonates, was associated with the lowest incidence of re-coarctation (P<0.005). A significant (>20 mmHg at rest) pressure gradient was found in none of the adults, and in seven of the 91 pediatric patients (7/91=7.7%) late survivors. Three adults (3/36=8.3%) late survivors are on medical treatment to control systemic hypertension. CONCLUSIONS: The long-term results of our retrospective study confirm that surgery has to be considered the gold standard for the treatment of aortic coarctation. The interventional angioplasty techniques have to provide long-term outcome at least similar to the results obtained with surgery.

Non-invasive imaging of the ring-sling complex in children.

The Ring-Sling Complex is an uncommon, congenital vascular and tracheobronchial malformation with a persistent high death rate. We report three patients in whom computed tomography (CT) and magnetic resonance imaging (MRI) were used for the preoperative diagnosis and for staging of the morphologic tracheal and vascular anomalies.

[Mitral valve prolapse and type II mucopolysaccharidosis. Report of two familial cases]. / Prolapsus mitral et mucopolysaccharidose type II. Observation de deux cas familiaux.

Type II mucopolysaccharidosis (Hunter's disease) is a hereditary condition due to a deficit of a lysosome specific hydrolase (iduronate sulfatase) inducing an accumulation of dermatane-sulphate and heparane-sulphate in certain organs. Cardiac involvement is constant in this disease and manifests itself essentially by aortic valve stenosis and insufficiency and/or mitral insufficiency which is progressive, irreversible and life-threatening. Two brothers of Portuguese nationality suffering from a so-called slight form of this disease had classical mucopolysaccharide infiltration of their aortic valves. The elder brother, aged 11, had severe aortic insufficiency associated with mild stenosis requiring treatment with vasodilator drugs. The younger, aged 8, had asymptomatic mild aortic regurgitation. Curiously, mitral valve prolapse with regurgitation was present in both children. The association of mitral valve prolapse and type II mucopolysaccharidosis, without other typical cardiac involvement, has only been reported once in the literature.

Treatment of congenital aortic valve stenosis: impact of the Ross operation.

GOAL: To evaluate the impact of the Ross operation, recently (1997) introduced in our unit, for the treatment of patients with congenital aortic valve stenosis. METHODS: The period from January 1997 to December 2000 was compared with the previous 5 years (1992-96). Thirty-seven children (< 16 yrs) and 49 young adults (16-50 yrs) with congenital aortic valve stenosis underwent one of these treatments: percutaneous balloon dilatation (PBD), aortic valve commissurotomy, aortic valve replacement and the Ross operation. The Ross operation was performed in 16 patients, mean age 24.5 yrs (range 9-46 yrs) with a bicuspid stenotic aortic valve, 7/10 adults with calcifications, 2/10 adults with previous aortic valve commissurotomy, 4/6 children with aortic regurgitation following PBD, and 1/6 children who had had a previous aortic valve replacement with a prosthetic valve and aortic root enlargement. RESULTS: PBD was followed by death in two neonates (fibroelastosis); all other children survived PBD. Although there were no deaths, PBD in adults was recently abandoned, owing to unfavourable results. Aortic valve commissurotomy showed good results in children (no deaths). Aortic valve replacement, although associated with good results (no deaths), has been recently abandoned in children in favour of the Ross operation. Over a mean follow-up of 16 months (2-40 months) all patients are asymptomatic following Ross operation, with no echocardiographic evidence of aortic valve regurgitation in 10/16 patients and with trivial regurgitation in 6/16 patients. CONCLUSIONS: The approach now for children and young adults with congenital aortic valve stenosis should be as follows: (1) PBD is the first choice in neonates and infants; (2) Aortic valve commissurotomy is the first choice for children, neonates and infants after failed PBD; (3) The Ross operation is increasingly used in children after failed PBD and in young adults, even with a calcified aortic valve.

Transposition of the great arteries, pulmonary atresia, and multiple ventricular septal defects associated with multiple cardiac rhabdomyomas in a case of tuberous sclerosis.

Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis. However, very few cardiac malformations have been described with tuberous sclerosis. We report an unusual case of tuberous sclerosis with cerebral and renal lesions associated with dextrotransposition of the great arteries, pulmonary atresia, patent ductus arteriosus, multiple ventricular septal defects, and parachute mitral valve deformity. After reviewing other cases of congenital heart diseases associated with tuberous sclerosis, emphasis is made on the potential influence of multiple rhabdomyomas developing very early during fetal life on final cardiac structures.

[Subtotal thrombosis of the juxta-ductal thoracic aorta in a premature 36-week-old infant. Alteplase therapy]. / Thrombose subtotale de l'aorte thoracique juxtaductale chez un prématuré de 36 semaines. Traitement par altéplase.

The authors report the case of a neonate, a premature 36 weeks gestation male child who presented with a spontaneous thrombosis of the juxtaduetal aorta at 3 days of age. The clinical presentation mimicked that of severe coarctation with cardiocirculatory failure. The diagnosis was ineffective, the introduction of low dose alteplase (plasma activator of human recombinant plasminogen) with continued anticoagulation resulted in near complete lysis of the clot and avoided surgery. Thromboembolic cerebral and renal complications were observed during treatment. However, 6 months after the acute episode, there were no clinical or echographic sequellae. Global renal function remained normal despite mild atrophy of the parenchyma of the left kidney. This combined treatment represents an alternative to high risk surgery. The follow-up of this form of management should be rigorous in view of the potential renal and cerebral complications.

[Three different types of atrial septal defects in the same family]. / Trois types différents de communication interauriculaire dans une même famille.

Most of the time atrial septal defects (ASD) are sporadic. Familial forms are characterised by the same type of the ASD, and are frequently associated by other cardiac, osteoarticular (Holt-Oram syndrome) or atrioventricular conductions abnormalities (ostium secundum ASD with prolonged PR, sinus venosus ASD with sinusal bradyarrhythmia). This report describes a family in which the father and his two children present an ASD, each one of a different type (ostium primum ASD, ostium secundum ASD, sinus venosus ASD), without any other associated malformations. To the best of our knowledge, this is the first report of a family in which three different ASD types are present.

Congenital aneurysm of sinus of valsalva ruptured into right ventricle diagnosed by magnetic resonance imaging.

Rupture of a congenital aneurysm of the sinus of Valsalva is a rare congenital cardiac malformation. This case report describes a congenital aneurysm of the sinus of Valsalva which ruptured into the right ventricle in a 3-year-old girl. The exact route of the fistula through the cardiac walls and the localization of the rupture into the right ventricle was not completely defined by two-dimensional and color Doppler echocardiography and could be determined only by magnetic resonance imaging (MRI).

Modified Blalock-Taussig shunt with compensatory properties.

Determination of the proper length of the tubular prosthesis is a major issue when performing a systemic-pulmonary artery shunt. The procedure is simplified by using a prosthesis with accordionlike properties. This was demonstrated in 7 consecutive infants with complex congenital heart defects, in whom systemic-pulmonary artery shunts were placed without early or late complications.

[Idiopathic dilatation of the right atrium simulating Ebstein's anomaly. Apropos of a case diagnosed in utero]. / Dilatation idiopathique de l'oreillette droite simulant une maladie d'Ebstein. A propos d'un cas découvert in utero.

In October 1992, severe dilatation of the right atrium was detected in a 35 week foetus. The septal leaflet of the tricuspid valve seemed to be displaced distally causing massive tricuspid regurgitation. The diagnosis of Ebstein's anomaly was made and confirmed after birth. Refractory right heart failure occurred at the age of 10 months and the little girl was operated. At surgery, the right atrium was very dilated; the tricuspid valve was normally positioned and was normally constituted. The right atrial wall, partially resected, contained few muscular fibres and showed patchy fibroelastosis. Four years after surgery, the child remains asymptomatic. Dilatation of the right atrium and the tricuspid annulus caused pseudo-displacement of the septal leaflet of the tricuspid valve. This, combined with the importance of tricuspid regurgitation, led to the erroneous diagnosis of Ebstein's anomaly. It is important to differentiate idiopathic right atrial dilatation from Ebstein's anomaly because surgery is much more difficult in the latter case.

Pulmonary oedema associated with mitral regurgitation: prevalence of predominant right upper lobe involvement in children.

OBJECTIVE: To evaluate the hypothesis that pulmonary venous congestion and oedema manifested predominantly in the right upper lobe in children with mitral regurgitation occur more frequently than previously thought. MATERIALS AND METHODS: Three radiologists retrospectively and independently reviewed the plain chest radiographs of 54 children (26 girls, 28 boys, age range 2 days-18 years, median 9.5 years) with mitral regurgitation admitted to our institution during a 5-year period. Radiographs showing pulmonary venous congestion and oedema manifested predominantly in the right upper lobe were identified. Clinical records of these patients were studied to exclude other causes of pulmonary disease. RESULTS: Radiographic signs of pulmonary venous congestion and oedema were present in all patients, with redistribution of flow and interstitial oedema in 39 patients (72 %) and alveolar oedema in 15 children (28 %). In 12 (22 %) of 54 children, these findings were localised or predominant in the upper lobe of the right lung; none of the children had predominantly left-sided involvement. CONCLUSIONS: Pulmonary venous congestion and oedema involving predominantly the upper lobe of the right lung in children with mitral regurgitation occur more frequently than previously thought. This finding is useful in the differential diagnosis of right upper lobe abnormalities, such as pneumonia.

Fatal rupture of an acquired aneurysm of the pulmonary artery: rare complication after surgical palliation of tricuspid atresia.

We report the case of a young woman who died from rupture of an aneurysmal dilatation of the left pulmonary artery. She suffered from tricuspid atresia type Ib and underwent a classic Glenn anastomosis at the age of 11 months; at 11 years a direct laterolateral anastomosis was constructed between the ascending aorta and the left pulmonary artery rather than a Fontan procedure for technical reasons. She subsequently developed severe pulmonary hypertension and an aneurysmal dilatation of the left pulmonary artery and was refused any further surgical correction.

[Pulmonary arteriovenous fistula: a rare cause of progressive asymptomatic cyanosis in neonates]. / Fistule artérioveineuse pulmonaire: une cause rare de cyanose progressive et muette chez le nourrisson.

A six month old girl with no significant medical history was admitted to hospital for progressive cyanosis of recent onset refractory to oxygen therapy. There were no detectable cardiac murmurs. Chest X-ray showed an irregular left posterior parahilar infiltration. Echocardiography showed dilatation of the left atrium and ventricle but no cardiac malformation. The diagnosis of pulmonary arteriovenous fistula was suspected. Chest CT scan, magnetic resonance imaging and pulmonary angiography demonstrated the arteriovenous fistula in the lower lobe of the left lung. It was much bigger than the appearances of the chest X-ray suggested. After the left lower lobectomy, the cyanosis completely disappeared. Progressive cyanosis refractory to oxygen therapy without any apparent cardiac or pulmonary disease is strongly suggestive of pulmonary arteriovenous fistula. Surgical treatment is curative whereas the spontaneous outcome of this condition may be lethal.

[Fatal double tracheo-esophageal vascular compression and neurofibromatosis]. / Double compression oesotrachéale fatale vasculaire et neurofibromateuse.

BACKGROUND: Vascular rings are a classical cause of tracheal and esophagus compression. We report the case of such an abnormality in an infant with neurofibromatosis. CASE REPORT: A 1 week-old male infant with a familial neurofibromatosis presented a stridor with severe respiratory distress. A vascular ring was demonstrated and operated on. The stridor persisted after surgery. A postoperative oesophagogram and tracheobronchoscopy showed an irregular compression of the oesophageal lumen, thought to be due to a residual extrinsic compression. Because the postoperative echocardiogram showed an extensive tumoral infiltration of both auricles, it was decided to not operate again the child. The postmortem examination revealed a disseminated neurofibromatosis infiltrating trachea, bronchi and also the wall of esophagus. CONCLUSION: Persisting stridor and oesotracheal compression postoperatively requires search for another cause. Association of vascular ring and neurofibromatosis is probably not fortuitous.