Accuracy and impact of prenatal diagnosis of common arterial trunk.

OBJECTIVES: Outcome of common arterial trunk (CAT) depends mainly on truncal valve function, presence of coronary artery abnormalities and presence of interrupted aortic arch. The main objective of this study was to evaluate the accuracy of prenatal diagnosis of CAT by analyzing prenatal vs postnatal assessment of: (1) anatomic subtypes and (2) truncal valve function. The secondary objective was to assess the potential impact of prenatal diagnosis of CAT on postnatal mortality and morbidity by comparing prenatally vs postnatally diagnosed patients. METHODS: This was a retrospective analysis of all CAT patients diagnosed either prenatally, with postnatal or fetopsy confirmation, or postnatally, from 2011 to 2019 in a single tertiary center. Cohen's kappa statistic was used to evaluate agreement between pre- and postnatal assessment of anatomic subtypes according to Van Praagh and of truncal valve function. Mortality and morbidity variables were compared between prenatally vs postnatally diagnosed CAT patients. RESULTS: A total of 84 patients (62 liveborn with prenatal diagnosis, 16 liveborn with postnatal diagnosis and six terminations of pregnancy with fetopsy) met the inclusion criteria. The accuracy of prenatal diagnosis of CAT anatomic subtype was 80.3%, and prenatal and postnatal concordance for subtype diagnosis was only moderate (κ = 0.43), with no patient with CAT Type A3 (0/4) and only half of patients with CAT Type A4 (8/17) being diagnosed prenatally. Fetal evaluation of truncal valve function underestimated the presence (no agreement; κ = 0.09) and severity (slight agreement; κ = 0.19) of insufficiency. However, four of five cases of postnatally confirmed significant truncal valve stenosis were diagnosed prenatally, with fair agreement for both presence and severity of stenosis (κ = 0.38 and 0.24, respectively). Mortality was comparable in patients with and those without prenatal diagnosis (log-rank P = 0.87). CAT patients with fetal diagnosis underwent earlier intervention (P < 0.001), had shorter intubation time (P = 0.047) and shorter global hospital stay (P = 0.01). CONCLUSIONS: The accuracy of prenatal diagnosis of CAT is insufficient to tailor neonatal management and to predict outcome. Fetal assessment of truncal valve dysfunction appears unreliable due to perinatal transition. Improvement is necessary in the fetal diagnosis of anatomic subtypes of CAT requiring postnatal prostaglandin infusion. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD syndromes are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD syndromes have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign. Whole-exome sequencing and SNP array identified compound heterozygous variants in the INTU gene, which encodes a protein involved in the positioning of the ciliary basal body. INTU is a subunit of the CPLANE multiprotein complex essential for the assembly of IFT-A particles and intraflagellar transport. This report of a second patient with INTU-related OFD syndrome and the further delineation of its neuroimaging and skeletal phenotype now allow INTU-related OFD syndromes to be classified within the OFD syndrome type VI group. Patients display a phenotype similar to that of mice with a hypomorphic mutation of Intu, but with the addition of a heart defect.

[Paediatric cardiac surgery and autoevaluation: risk score, complexity score and graphic analysis]. / Chirurgie cardiaque pédiatrique et auto-évaluation: score de risque, score de complexité et analyses graphiques.

The creation of a paediatric surgical unit requires autoevaluation in order to: assess the quality of the results with respect to recognised international standards, answer the family's questions about the results obtained and adhere to criteria of accreditation Between January 2003 and December 2004, 201 consecutive patients, children (N= 164) or operated for adult congenital heart disease (N= 37) were treated. No patient was excluded. The RACHS-1 risk score, the ARISTOTLE scores of complexity and performance and the CUSUM and VLAD graphic analyses were applied to the study of hospital mortality. An original "variable performance-adjusted display" (VPAD) graphic analysis was performed to show up any possible variations of performance. Paediatric hospital survival was 97.56% (95% CI: 93.9 - 99.1). The paediatric complexity and performance scores were 6.79 +/- 0.22 and 6.62 respectively. In the absence of statistical significance in this field of autoevaluation, graphic analyses indicated the performance of our unit with no "learning" curves. Graphic scores and analyses allow assessment of the function of a paediatric cardiac surgical unit and the variations of complexity with respect to time, before the appearance of statistical significance. The ARISTOTLE complexity and performance scores and their adaptation in VPAD seem to be more reliable and discriminating than the RACHS-1 score.

[Complications of prostaglandin E1 treatment of congenital heart disease in paediatric medical intensive care]. / Complications du traitement par prostaglandines E1 des cardiopathies congénitales en réanimation médicale pédiatrique.

The authors undertook a retrospective study of the modes of prescription, the tolerance and efficacy of prostaglandin E1 in 62 consecutive neonates with congenital heart disease (average Age 1.6 days: 35 boys: weight: 3.1 +/- 0.6 Kg) admitted to the paediatric intensive care unit of Nancy University Hospital between 1998 and 2002. The infusion time and cumulative dosage were 134 +/- 112 (6-480) hours and 111 +/- 94 (4-396) microg/Kg respectively. The side effects that were observed were: Apnoea (19%), abdominal distension (16%), bradycardia (13%), enterocolitis (6.5%), hypotension (6.5%), vomiting (5%), fever (1.6%) and skin rash (1.6%). Gastrointestinal disturbances are associated with a low body weight (p<0.04), to prolonged treatment (p<0.02) with no influence of initial or cumulative dosages (P=NS), with respiratory assistance (p<0.03) and longer hospital stay (p<0.01). Hypotension was commoner in cases of poor neonatal adaptation. Mortality was correlated with severe initial acidosis (p<0.02), a low Apgar score, the initial prolonged use of high doses of prostaglandin (p<0.04), and the presence of severe valvular aortic stenosis or hypoplasia of the left heart (p<0.002). The authors conclude that treatment with prostaglandin is effective in the majority of cases despite the use of low maintenance doses (0.01 microg/Kg/min). Gastrointestinal disturbances favourised by the perinatal context, the cardiac disease, and prolonged treatment are significant factors for morbidity and mortality. The beneficial role of early neonatal enteral feeding was not demonstrated in this high risk population.

[Feasibility and significance of a transoesophageal electrophysiological investigation in children and adolescents with Wolff-Parkinson-White syndrome]. / Faisabilité et intérêts de l'étude électrophysiologique par voie transoesophagienne dans le syndrome de Wolff-Parkinson-White de l'enfant et de l'adolescent.

UNLABELLED: An electrophysiological investigation is the most reliable means of detecting malignant forms of Wolff-Parkinson-White syndrome (WPW). However, an endocavity investigation is an invasive procedure, especially in young subjects with few symptoms. The aim of this study was to examine the feasibility and results of an electrophysiological study performed by the transoesophageal route in children with WPW. The study was performed in 70 children aged between 11 and 19 years (mean 15 +/- 3) with an obvious ECG appearance of WPW: 13 had dizziness or syncope (group I), 25 had tachycardia (group II) and 32 were asymptomatic (group III). The ages were similar in all three groups. The transoesophageal electrophysiological investigation without premedication consisted of atrial stimulation at increasing frequencies and programmed atrial stimulation using one and two extra stimuli delivered in the basal state and after infusion of 2 to 5 microg of isoproterenol. RESULTS: The investigation was completed in all the children except one in group II. A paroxysmal junctional tachycardia was induced in 7 group I children (54%), 22 in group II (92%) and 4 in group III (12.5%). Atrial fibrillation lasting more than one minute was induced in 7 group I children (54%), 6 in group II (25%) and 6 in group III (19%). The percentage of malignant forms combining rapid conduction in the bundle of Kent at a rate of more than 240/min in the basal state or more than 300/min with isoproterenol, and atrial fibrillation was 54% in group I, 21% in group II, and 22% in group III. In conclusion, a transoesophageal electrophysiological investigation was possible as an outpatient procedure in children older than 10 years, and allowed the detection of potentially serious forms whatever the indication for the investigation, with nevertheless a significantly higher incidence in those presenting with dizziness or syncope. The incidence of 22% for potentially malignant forms in asymptomatic children provides an incentive to recommend an ECG in all children older than 10 years participating in an active sport in order to detect WPW and to propose oesophageal investigation.

[Grave's disease in children with 22q11 deletion. Report of three cases]. / Syndrome de délétion 22q11 et maladie de Basedow. A propos de trois observations pédiatriques.

Hypothyroidism is a well recognized complication of 22q11.2 deletion syndrome. Auto-immune hyperthyroidism is less common. We report three patients with a 22q11.2 deletion and Graves' disease diagnosed at age 17, 14 and 11 years, respectively. The clinical and biological presentation was typical for auto-immune hyperthyroidism. Graves' disease should be periodically sought during the follow-up program of patients with 22q11.2 deletion syndrome.

[Kawasaki disease in newborns and infants: refractory forms to immunoglobulin therapy]. / Maladie de Kawasaki chez le nourrisson et l'enfant: formes réfractaires aux immunoglobulines.

UNLABELLED: We studied 52 consecutive patients with Kawasaki disease hospitalized (1984 -2003) during the acute phase (mean age 2.5 + 2.4 years; range 0.3 to 16 years, 34 males, 18 cases with coronary aneurysms, median follow-up 6.7 years), and identified a subgroup presenting a refractory subtype to immunoglobulin therapy. RESULTS: forty-nine infants benefited from a first regimen of immunoglobulins, 8.4 + 6 days following the onset of symptoms. Eleven infants (1.4 + 1.2 years, range 0.3 - 4.3 years, median 1.7 years) were non-responders, with coronary aneurysms in 8 cases (giant aneurysms (>8 mm) in 4 cases). These 11 infants were treated a second time by immunoglobulins, but 6 cases (1.8 + 1.6 years, with two cases of severe ventricular dysfunction and 2 cases of fatal myocardial infarction) required an additive therapy with (oral or IV route) corticosteroids (2) and cyclophosphamide bolus (4) with or without repetitive plasmapheresis (4). Non-responder patients had their treatment onset later (p<0.0003) using higher dosages (p<0.005), a longer delay for fever or biological signs correction (p<0.02), a worsening of coronary lesions (p<0.05) with more coronary secondary aneurysms (p<.005). The aneurysms, more frequent at the second phase of the disease (p<0.0001) are associated with: a younger age (p<0.03), a lower weight (p<0.02), a later onset of treatment (p<0.03), prolonged fever or inflammatory syndrome (p<0.05), higher level of fibrinogene (p<0.02). The overall mortality (5.7%) is correlated with giant aneurysms (p<0.001), myocardial ischemia (p<0.0001), heart failure (p<0.0001), and lack of early response to treatment (p<0.003). CONCLUSION: immunoglobin therapy can be repeated. In case of severe forms, the use of corticosteroids, cyclophosphamide and plasmapheresis may be proposed.

[Late presentation of type A aortic arch blockage with a large type I aortopulmonary window]. / Présentation tardive d'une interruption de l'arche aortique de type A avec large fenêtre aorto-pulmonaire de type I.

We report the case of a 39 day old infant, hospitalised for congenital cardiopathy associated with type A blockage of the aortic arch with a large type I aortopulmonary window. The infant was in cardiogenic shock with pulmonary systemic hypertension and a tightly stenosed arterial canal (< 2 mm). With no possibility of re-opening the arterial canal under PGE1 at this stage, complete repair was performed as an emergency. After section of the aortopulmonary window, it was closed on the pulmonary side with a patch of autologous pericardium. Repair of the aortic arch was performed without prosthetic material, under selective cerebral perfusion to protect the brain parenchyma, after mobilisation of the descending thoracic aorta, which was anastomosed directly with the distal part of the window and aortic arch. Recovery was uncomplicated, with no residual lesion at 6 month post-operative follow up. The late clinical presentation of this patient shows the effect of medical management without prior catheterisation, with operative techniques minimising peri-operative tissular ischaemia and conserving aortic and pulmonary growth potential.

[Cardiac stimulation in the infant and young child]. / Stimulation cardiaque chez le nourrisson et le jeune enfant. Avantages et inconvénients respectifs de la voie endocavitaire et de la voie épicardique.

This study evaluates the problems and the evolution of cardiac stimulation in infants (aged < 3.5 years) by comparing the endocavity and epicardial routes in a retrospective series of 37 patients. Thirty seven patients aged 1.2 +/- 0.9 years treated with epicardial (n = 19) or endocavity (n = 18) stimulation were followed for 10.9 +/- 6.4 years (0.75-24). The 2 patient groups did not differ in age or weight. Four patients were lost to follow up, and 1 died. The functional duration of the first stimulator was not significantly different if the initial approach was epicardial or endocavity. The endocavity probes were introduced by venous denudation in 15 cases and by subclavian puncture in 3 cases. Fourteen of the 19 children fitted by the epicardial route went on to endocavity stimulation, of which 10 were at the first replacement. None of the 18 patients fitted by the endocavity route went on to epicardial stimulation. Out of 11 endocavity probe replacements and 9 atrialisations, the homolateral venous approach was always possible except in 2 cases. In conclusion, the results for the epicardial and endocavity routes are comparable. For technical reasons (calibre of the veins, size of the stimulator) it would appear reasonable if the endocavity route was used, making do initially with a mono chamber stimulation. The advances in the epicardial electrodes abolishes the major handicap (threshold elevation) of this approach which can be advocated when double chamber stimulation seems preferable.

[Isolated congenital complete atrio-ventricular block]. / Blocs auriculo-ventriculaires complets congénitaux isolés. Suivi à long terme d'une série consécutive de 54 patients.

The objective of this work was to study the long term evolution of a retrospective series of 54 patients affected with congenital isolated complete atrio-ventricular block (CAVB) and to analyse the value of the different methods used for surveillance. Our series included 54 patients affected with isolated CAVB, without associated cardiopathy, diagnosed at an average age of 5.3 +/- 5.5 years, of which 9 were in utero. The average duration of follow up was 14.5 +/- 9.6 years. During the evolution, a cardiac stimulator was placed in 41 patients (76%) at a relatively late average age of 13.3 +/- 9 years, significantly lower for CAVB diagnosed before the age of 1 year (9.6 +/- 7.4 years) than for those diagnosed after the age of 1 year (16.2 +/- 9.2 years) (p < 0.02). The approach was endocavitary in 39 cases and epicardial in 2 cases. The only 2 deaths in our series (4%) concerned 2 patients of 18 and 26 years already fitted with a stimulator. Three patients progressed to severe dilated cardiomyopathy despite implantation of a stimulator. The decisive arguments for implantation of a PM were clinical (11 patients), Holter ECG (25 patients), stress test (17 patients), electrophysiological investigation (5 patients), echocardiography (3 patients) and surgical intervention (2 patients). In conclusion, our study confirms the good prognosis of isolated congenital complete atrio-ventricular block, but underlines the possible progression in rare cases in spite of stimulation towards dilated cardiomyopathy for which the aetiology remains uncertain. Three quarters of the patients required a stimulator at a somewhat late age.

[Role of pediatric cardiologists in the management of neonates with congenital heart disease]. / Le rôle du cardiopédiatre dans la prise en charge néonatale d'une cardiopathie congénitale.

Whether diagnosed before birth or suspected in a newborn, congenital heart diseases rapidly require an evaluation by the pediatric cardiologist. The role of the pediatric cardiologist is threefold: 1) to realize a careful anatomical examination using color Doppler echocardiography; 2) in many cases to perform a palliative or curative therapeutic act based upon interventional catheterization, such as Rashkind atrioseptotomy or percutaneous balloon valvuloplasty; and 3) whenever necessary, to take a rapid decision of cardiac surgery in concert with the cardiac surgeon, and to prepare the child for surgery.

Extrahepatic biliary atresia with laterality sequence anomalies.

The patient was the first child of first cousin parents. He was born at term after an uneventful pregnancy with normal height, weight and head circumference. Jaundice appeared at 15 days of age. Ventricular septal defects and valvular pulmonary stenosis were diagnosed. An hepatic workup revealed extrahepatic biliary atresia and abdominal situs inversus. Hepatic biopsy showed cirrhosis with intrahepatic cholestasis. Genetic factors are suggested in extrahepatic biliary atresia. Analysis of segregation patterns suggested the existence of two major groups, one with various combinations of anomalies within the laterality sequence and the other with one or two anomalies mostly involving the cardiac, gastrointestinal, and urinary systems. This patient belongs to the first group.

Paroxysmal tachycardia in children and teenagers with normal sinus rhythm and without heart disease.

The purpose of this study was to evaluate the value of esophageal programmed stimulation in children and teenagers with normal sinus rhythm ECG and normal noninvasive studies, having palpitations and syncope, and no documented tachycardias. Paroxysmal tachycardias are frequent in children and are often related to accessory connection. These tachycardias are sometimes difficult to prove. Transesophageal atrial pacing was performed at rest and during infusion of isoproterenol in 31 children or adolescents aged 9-19 years (16 +/- 3 years) with normal sinus rhythm ECG and suspected or documented episodes of paroxysmal tachycardia. Sustained tachycardia was induced in 27 patients, at rest in 13 patients, and after isoproterenol in 14 remaining patients. Atrioventricular nodal reentrant tachycardia was found as the main cause of paroxysmal tachycardia (22 cases). Six patients were followed by a vagal reaction and dizziness. These patients had spontaneous tachycardia with syncope. In three other patients, atrial fibrillation was also induced. Concealed accessory pathway reentrant tachycardia was identified in three patients. In two patients, a regular wide tachycardia with right bundle branch block morphology was induced; the diagnosis of verapamil-sensitive ventricular tachycardia was made in a second study by intracardiac study. In conclusion, atrioventricular nodal reentrant tachycardia was found as the main cause of symptoms in children with normal sinus rhythm ECG. Syncope is frequently associated and provoked by a vagal reaction. This diagnosis could be underestimated in adolescents frequently considered as hysterical because noninvasive studies are negative.

[Junctional tachycardia in adolescents: nodal reentry is the most frequent cause]. / Les tachycardies jonctionnelles de l'adolescent: la réentrée intranodale est la cause la plus fréquente.

UNLABELLED: Ventricular preexcitation syndromes are classically more common in the pediatric age group than in adults, and a latent Kent bundle may explain most cases of paroxysmal junctional tachycardia (PJT). These data stem from the results of intracardiac electrophysiologic testing, which is performed only in those patients at the most severe end of the symptom spectrum. The recent introduction of transesophageal testing has expanded the indications of electrophysiologic testing for PJT. This technique was used to determine the mechanism of PJT in 23 adolescents aged 11 to 9 years (mean age, 16 +/- 3 years) with paroxysmal palpitations, accompanied in seven cases with dizziness or syncope. Only four patients had documented PJT. The basal ECG was normal, and exercise testing showed no evidence of preexcitation. Pacing at increasing rates and programmed stimulation with one then two extra-stimuli was used and repeated, if needed, under infusion of 20 to 30 micrograms of isoproterenol. RESULTS: PJT was induced in 21 patients (91%), under basal conditions in 13 and under isoproterenol in eight. Neither of the two patients with a negative test had documented tachycardia. Based on classic criteria (position of A relative to V1, effect of a bundle branch block, and shape of A in D1 and V1), the mechanism of the PJT was shown to be nodal reentry in 17 cases (81%) and reentry into a latent left-sided Kent's bundle in four cases. Atrial fibrillation was also induced in two of the patients with nodal reentry. In six of the patients with dizziness or syncope associated with palpitations, these symptoms were due to nodal reentry. CONCLUSION: Nodal reentry is very common in adolescents and can explain symptoms ascribed to "spasmophilia", as well as some cases of malaise or syncope.

Induction of sustained ventricular tachycardia after surgical repair of tetralogy of Fallot.

Between 1980 and 1996, 89 unselected consecutive patients with repaired tetralogy of Fallot (TOF) underwent examination, including a prospective right ventricular programmed stimulation with the same protocol (S1 S2, S3, S4). Age at surgery was 4.2 +/- 3.5 years and age at electrophysiologic study was 10.9 +/- 6.5 years. Follow-up since surgery was 14.4 +/- 4.8 years and patient follow-up after programmed stimulation was 7.8 +/- 4.2 years. The aim of this study was to evaluate the main predictors of the inducibility of a sustained monomorphic ventricular tachycardia (VT) and its significance to identify a group of patients at risk of sudden death: 21 (group A) had and 68 (group B) had no induced sustained VT. The induction of VT was related to older age at programmed stimulation, prolonged QRS duration, presence of complex ventricular arrhythmia, symptoms, right ventricular overload, and increased right ventricular systolic pressure. Predictors of induced VT selected by multivariate analysis were age at electrophysiologic study (p <0.0001), previous palliative shunts (p <0.001), right ventricular systolic pressure (p <0.007), and symptoms (p <0.005). Among group A patients, 4 had previous sustained VT before stimulation, and 1 had sustained VT only during follow-up after stimulation. No patients of group B had clinical sustained VT. Late mortality was low but similar between both groups. A negative electrophysiologic study may be helpful for the management of patients after surgical repair of TOF, but because the arrhythmic event rate is low, the findings of even a positive electrophysiologic study should be interpreted with caution.

[Cardiac arrest in an adolescent with arrhythmogenic right ventricular dysplasia]. / Arrêt cardiocirculatoire chez une adolescente et dysplasie arythmogène du ventricule droit.

We report the case of a 16-year-old girl who experienced sudden cardiac arrest from ventricular fibrillation, complicating an arrhythmogenic right ventricular dysplasia, a rare heart muscle disorder, occurring typically in young adults, characterized by a fibrofatty replacement of the right ventricular myocardium. Symptomatic ventricular arrhythmias are frequent, and sudden death has been reported. In our case, diagnosis of arrhythmogenic dysplasia was based on the association of one major criterion and two minor criteria as suggested by the relevant task force. In contrast with most other reports, the chest ECG did not display the typical features. An automatic transvenous pectoral cardioverter-defibrillator was implanted. The authors emphasise that juvenile forms are more exposed to ventricular fibrillation and sudden cardiac death, and consequently require the early detection of the disease. Family cases have been described and the occurrence in one individual must lead to investigations in the relatives.

[5-year results of arterial correction in transposition of great vessels]. / Résultats à 5 ans de la détransposition artérielle de la transposition des gros vaisseaux.

A prospective study was performed on in-hospital patients between June 1985 and July 1992 to assess the 5 year results of surgical detransposition of the great arteries. Clinical examination, electrocardiography, echocardiography, right and left heart catheterisation with selective coronary angiography, isotopic right and left ventricular ejection fractions at rest and with infusion of dobutamine and SestaMibi myocardial perfusion scintigraphy at rest and with dipyridamole, were performed during the 5th year after surgery. Twenty-six children underwent this protocol: eight others did not come for examination because they had moved from the region, one of whom had suffered regressive postoperative myocardial infarction. All patients were asymptomatic and had only minor electrocardiographic changes. Stenosis of the pulmonary tract was observed in 38.5% but only one case of stenosis at the origin of the right pulmonary artery required percutaneous angioplasty, which was successful. Pulmonary regurgitation was a common echocardiographic finding (65.4% of cases) but rarely severe (1/26: 3.9%). Aortic regurgitation was also observed commonly (53.8%), nearly always mild, grade I (13/14 cases). No significant stenosis of the aortic anastomosis was observed. The right and left ventricular ejection fractions were normal at rest except in one case and all values improved with dobutamine. Myocardial scintigraphy did not show any perfusion defect and there was no stenosis or occlusion of the coronary arteries at coronary angiography. The authors conclude that the results of arterial detransposition at 5 years are satisfactory in this series, with no cases of major obstructive lesions, major ventriculo-arterial regurgitation, ventricular dysfunction or coronary lesions. However, longer term trials with larger numbers of patients are required to determine the real incidence of coronary lesions and the long-term outcome of the pulmonary valve in the systemic position.

[Familial supravalvular aortic stenosis. Investigation in a family and review of the literature]. / Sténose aortique supravalvulaire familiale. Observation d'une famille et revue de la littérature.

Familial supravalvular aortic stenosis is a rare autosomal dominant condition. It may be distinguished from the Williams-Beuren syndrome by the absence of the characteristic dysmorphic appearances and of mental retardation. The case of a 9-year-old girl with a severe surgical stenosis led to the diagnosis of the same malformation in the mother and two brothers. This family adds to the 121 cases reported in the literature describing the main features of SVAS. Molecular biological advances have shown that familial SVAS and the Williams syndrome are due to mutation of the elastin gene located at 7q11-23. In the Williams syndrome the allele of this gene is completely absent and there is also probably deletion of contiguous genes, which explains involvement of cognitive function. In SVAS, the genetic lesion, mutation or microdeletion is more limited, explaining the usually isolated aortic malformation. Other studies are necessary to confirm these results.

Incomplete bundle-branch block and ST-segment elevation: syndrome associated with sustained monomorphic ventricular tachycardia in patients with apparently normal heart.

This paper reports on three cases of patients with an apparently normal heart admitted for sustained monomorphic ventricular tachycardia. The only abnormal finding showed in the electrocardiogram (ECG) in sinus rhythm that exhibited an entity associated with incomplete right bundle-branch block and persistent ST-segment elevation. The ECG entity was variable and disappeared transiently. Spontaneous ventricular tachycardia in one patient was inducible by programmed stimulation. There was no underlying heart disease. The origin of the ventricular tachycardia in one patient was located by pace mapping in the left ventricle at the left ventricular basal septum. The follow-up (from 6 months up to 6 years) demonstrated a good prognosis. This particular ECG entity associated with monomorphic ventricular tachycardia could have been missed because of the variations in the ECG in sinus rhythm and was associated with a favorable prognosis.

Mechanism of QRS electrical alternans.

In patients with latent dual atrioventricular nodal pathways a 2:1 ventriculoatrial block often occurs during ventricular pacing and is generally associated with the concomitant appearance of QRS alternans. This type of QRS alternans is related to retrograde conduction, and a concealed retrograde conduction in the His Purkinje system could explain the QRS alternans. A case that confirms the hypothesis that electrical alternans is secondary to a 2:1 block in the activation of some part of the ventricles is reported.