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.