A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene.

Background: Disease severity is tremendously variable in tuberous sclerosis complex (TSC). In contrast with the detailed guidelines available for TSC diagnosis and management, clinical practice lacks adequate tools to evaluate the prognosis, especially in the case of in utero diagnosis. In addition, the correlation between genotypes and phenotypes remains a challenge, in part due to the large number of mutations linked to TSC.

Prenatal diagnosis and prognosis of accelerated idioventricular rhythm.

Objectives: As postnatal identification of accelerated idioventricular rhythm (AIVR) relies on specific electrocardiographic patterns, prenatal diagnosis of this condition is challenging and its true incidence is unknown. The objectives of this study were to evaluate the performance of prenatal ultrasonography in identifying intrauterine cardiocirculatory events linked to specific electrocardiographic signs of postnatal AIVR, including left or right ventricular origin, and to assess the prenatal prognosis of this arrhythmia.

Methods: We reviewed Doppler tracings from the superior vena cava/ascending aorta (SVC/Ao), ductus venosus (DV), ductus arteriosus (DA) and aortic isthmus (AoI), as well as simultaneous M-mode recordings of septal and left ventricular wall motions of fetuses diagnosed with AIVR from January 2004 to December 2014.

Uhl's anomaly: a difficult prenatal diagnosis.

Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. The most difficult differential diagnosis at presentation is the Ebstein disease. We describe the evolution of a foetus with Uhl's anomaly from 21 to 30 weeks of gestation, with progressive reduction in the right ventricular anterior myocardium suggestive of apoptosis, leading to foetal demise.

Implanting telehealth network for paediatric cardiology: learning from the Quebec experience.

The implementation committee of the Quebec Child Telehealth Network was formed in 1997, with a mandate to build a network dedicated to the diagnosis of congenital cardiac disease via telemedicine. We devised criterions for selection to determine which peripheral centres would be linked by telemedicine to the university-based services for paediatric cardiology provided in the Canadian Province of Quebec. The criterions included: distance from a university centre, number of births per year, and presence of an already-established outreach clinic for paediatric cardiology.

A cost-effectiveness analysis of interactive paediatric telecardiology.

We analysed the cost-effectiveness of a teleconsultation service after five years of operation. The service provides diagnostic consultation at a distance for children suffering from cardiac pathologies. A retrospective study was performed with all 78 infants who had received a paediatric cardiology teleconsultation over a four-year period from January 1998.

Superoinferior ventricles with superior left ventricle and inferior right ventricle: a newly recognized form of congenital heart disease.

We report the first known case of supero-inferior ventricles with a superior morphologically left ventricle and an inferior morphologically right ventricle. This 2 1/2-year-old boy also had dextrocardia, double-outlet right ventricle [S,L,L], right-sided mitral atresia, left-sided tricuspid regurgitation, a large conoventricular type of ventricular septal defect, and pulmonary outflow tract stenosis. This very rare form of superoinferior ventricles appears to be due to excessive levorotation (approximately equal to 170 degrees) of discordant L-loop ventricles.

Outcome of children with atrial septal defect considered too small for surgical closure.

There are few studies providing information on the natural course of hemodynamically insignificant atrial septal defect (ASD). To review the outcome of patients with secundum ASD, we retrospectively reviewed the charts of patients who had initially not been considered for surgical closure after age 1 year, and who had either a follow-up of at least 10 years or documented closure. Thirty patients, 22 females and 8 males, fulfilled our inclusion criteria.

Ventriculo-atrial time interval measured on M mode echocardiography: a determining element in diagnosis, treatment, and prognosis of fetal supraventricular tachycardia.

Objective: To determine whether M mode echocardiography can differentiate fetal supraventricular tachycardia according to the ventriculo-atrial (VA) time interval, and if the resulting division into short and long VA intervals holds any relation with clinical presentation, management, and fetal outcome.

Design: Retrospective case series.

Subjects: 23 fetuses with supraventricular tachycardia.

Segmental myocardial contractility versus perfusion in Kawasaki disease with coronary arterial aneurysm.

The impact of Kawasaki-related coronary injury on the myocardium was evaluated in 13 patients with persistent coronary aneurysm after a follow-up period of 7.92+/-3.97 years (range 1.

Endocardial fibroelastosis in L-transposition of the great arteries with Ebstein's anomaly: revisited.

Ebstein's anomaly is a congenital deformity of the tricuspid valve consisting mainly of leaflet malinsertion. Clinical presentation varies from asymptomatic patients to those with congestive heart failure secondary to significant valvular regurgitation and low right ventricular output. We report here the case of an infant with a diagnosis of corrected transposition of the great arteries and Ebstein's deformity of the left-sided tricuspid valve who developed pulmonary hypertension and endocardial fibroelastosis, two unusual associations with this lesion.

Factors affecting the prognosis of Ebstein's anomaly during fetal life.

Background: The echocardiographic criteria that have been used to evaluate severity of Ebstein's anomaly in utero are the same as those applied after birth.

Objective: The objective of this study was to establish prognostic criteria that take into account the peculiarities of the fetal hemodynamics.

Method: The video recordings of eight fetuses with Ebstein's anomaly were retrospectively reviewed.

Reversible steroid-induced hypertrophic cardiomyopathy with left ventricular outflow tract obstruction in two newborns.

Dexamethasone is now frequently used in the treatment of bronchopulmonary dysplasia. We report on two premature babies receiving dexamethasone who developed symptomatic myocardial hypertrophy and left ventricular outflow tract obstruction, as documented by M-mode echocardiography and Doppler studies. A normal heart was recorded on echocardiography before and after dexamethasone treatment.

[Idiopathic dilatation of the pulmonary artery. Echocardiographic aspects].

The authors compared 30 patients with at least one clinical sign of idiopathic dilatation of the pulmonary artery, with a group of 20 normal control subjects in order to establish diagnostic criteria for this condition. In the first group, 17 had characteristic radiological findings and 13 others had clinical signs of idiopathic dilatation of the pulmonary artery. Comparison with the control group showed significant differences (p < 0.

Predictive factors for spontaneous closure of atrial septal defects diagnosed in the first 3 months of life.

Objectives: To establish the rate of spontaneous closure of atrial septal defects diagnosed before age 3 months, 101 infants (mean age 26 days) with an interatrial shunt confirmed by Doppler echocardiography were followed up for an average of 265 +/- 190 days.

Background: Even if interatrial shunts in the newborn are frequently encountered, little is known about their natural history.

Methods: Defect diameter on two-dimensional echocardiography and width of color flow jet were measured in the subcostal view.

Fetal central blood flow alterations in human fetuses with umbilical artery reverse diastolic flow.

Blood flow velocimetry studies in animal fetuses with reverse diastolic flow in the umbilical artery have shown marked changes in the fetal central circulation characterized by a retrograde diastolic flow in the descending aorta, and as far as the aortic arch, along with a significant forward diastolic flow in the arteries going to the brain. Documentation and the implications of this phenomenon in human fetuses, to date, have not been reported. Doppler echographic evaluations of the diastolic patterns in the umbilical artery, descending aorta, the aortic arch, and the common carotid artery were performed on 5 fetuses in whom reverse diastolic flow was observed in the umbilical artery.

[Percutaneous aortic valvuloplasty in children, non invasive evaluation and criteria of success].

The results of percutaneous aortic valvuloplasty in 15 children (average 8.4 years) were evaluated by echocardiography and non-invasive criteria of the indication of this procedure were defined. The aortic valve was unthickened in 7 patients (Group I) and dystrophic in the other 8 (Group II).

Reverse systolic flow in dilated pulmonary arteries demonstrated by colour Doppler imaging.

Objective: To compare patterns of reverse systolic flow in pulmonary arteries in children with dilated and normal pulmonary arteries.

Design: Retrospective survey.

Setting: Tertiary pediatric cardiology referral centre.

Cardiac two-dimensional imaging and reference values for blood flow velocities in the ovine fetus.

Since the ovine model is the most commonly used for foetal haemodynamic investigation it was felt important 1) to investigate the technical difficulties involved with ultrasound fetal cardiac imaging in this species and 2) to establish normal reference values for ovine cardiac and umbilical blood flow velocity measurements. Both two-dimensional and pulsed Doppler techniques were used for this assessment in 25 unsedated ewes. All morphological features described in human features to identify the ventricular cavities could be found in the ovine fetus with the two-dimensional echocardiogram.

Usefulness of non-invasive indices in the monitoring of heart-transplanted pediatric patients.

Seven patients underwent cardiac transplantation at Ste-Justine Hospital between June 1984 and October 1988 (age 3-16 years). Indices derived from M-mode echocardiography--left ventricular mass (LVM), isovolumetric relaxation time (IRT), shortening fraction (SF), velocity of circumferential fiber shortening (VCF), ejection fraction (EF), LV pre-ejection period/ejection time (PEP/ET), isometric contraction time (ICT)--and electrocardiography--summation of potentials (Sum Pot)--were used as non-invasive markers of rejection (367 studies), while rejection status was monitored by serial endomyocardial biopsy (55 biopsies). Spontaneous variation of such indices, as defined by the 90% distribution interval of their variation when biopsy was unchanged, was found to be important: -20% to +28% for IRT, -30% to +28% for LVM, -30% to 32% for Sum Pot, -32% to 42% for PEP/ET, etc.

Closure of the ductus arteriosus: determinant factor in the appearance of transient peripheral pulmonary stenosis of the neonate.

We speculated that a relationship may exist between transient peripheral pulmonary stenosis and the closure of the ductus arteriosus. Fifty preterm infants had pulmonary artery and ductal color Doppler flow velocity assessments performed before and after closure of the ductus arteriosus. No flow turbulence or increase in velocity was observed immediately after birth, although a significant discrepancy in size was observed between the main pulmonary artery and its two branches.

In utero sonographic diagnosis of diaphragmatic hernia with hepatic protrusion into the pericardium mimicking an intrapericardial tumour.

A case of right-sided congenital diaphragmatic hernia was detected at 33 weeks of gestation. Fetal echocardiography revealed the presence of an intrapericardial mass (3.5 x 3 cm) localized at the right of the heart and surrounded by a massive pericardial effusion.

Effect of intermittent positive pressure ventilation on diastolic ventricular filling patterns in premature infants.

Eleven preterm newborn infants had a Doppler echocardiographic examination of their ventricular filling patterns during intermittent positive pressure ventilation. Peak velocity during early ventricular filling (VE) and during atrial systole (VA) and diastolic velocity-time integral of early (IE) and late (IA) ventricular filling caused by atrial contraction were measured. The ratios of VE/VA and IE/IA were also calculated.

Decompensated cardiomyopathy mimicking hepatitis in a 13-year-old girl.

The name of a 13-year-old girl diagnosed as having idiopathic dilated cardiomyopathy was removed from the cardiac transplant list because a hepatitis-like picture developed that coincided with evidence of decompensation of her cardiac function. On admission, there was only modest evidence of cytolysis (ALT level, 115 U/L) and of cholestasis (bilirubin level, 3.0 mg/dl), but there was severe prolongation of her prothrombin time (28 s).