Outcomes following prenatal diagnosis of isolated persistent left superior vena cava.

Background: Prenatal diagnosis of persistent left superior vena cava is increasing, but little is known about outcomes of infants with prenatally diagnosed isolated persistent left superior vena cava.

Objective: To assess the outcomes of infants with isolated persistent left superior vena cava diagnosed prenatally compared with infants with associated malformations.

Methods: All cases of persistent left superior vena cava confirmed by specialized fetal echocardiography in pregnant women were included from a single-centre prospective registry.

Prospective study feasibility: Screening of antenatal total abnormal pulmonary venous return.

Introduction: Total abnormal pulmonary venous return is a heart defect often missed prenatally, yet at birth, it is a surgical emergency. Antenatal detection could be improved by sonographic visualization of the anastomosis of 2 pulmonary veins in a sinus into the left atrium. The objective of this study is to evaluate the feasibility of this screening method.

Information and communication on risks related to medications and proper use of medications for healthcare professionals and the general public: precautionary principle, risk management, communication during and in the absence of crisis situations.

Recent drug crises have highlighted the complexity, benefits and risks of medication communication. The difficulty of this communication is due to the diversity of the sources of information and the target audience, the credibility of spokespersons, the difficulty to communicate on scientific uncertainties and the precautionary principle, which is influenced by variable perceptions and tolerances of the risk. Globally, there is a lack of training in risk management with a tendency of modern society to refuse even the slightest risk.

Aberrant drainage of the umbilical vein into the coronary sinus without ductus venosus agenesis.

We describe a case series of 4 fetuses with ectopic connections of the ductus venosus to the coronary sinus detected prospectively between August 2011 and February 2012 in 2 congenital cardiologic centers. An enlarged coronary sinus alerted the sonographer. Fetal echocardiography showed ectopic connection of the ductus venosus in an enlarged coronary sinus in all 4 cases.

De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease.

Study/principles: Arrythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an autosomal-dominantly inherited disease caused by mutations in genes encoding desmosomal proteins and is characterised by fibrofatty replacement occurring predominantly in the right ventricle and can result in sudden cardiac death. Naxos and Carvajal syndrome, autosomal recessive forms of ARVC/D, are characterised by involvement of the right and/or left ventricle in association with palmoplantar keratoderma and woolly hair. The aim of the present study has been to screen for mutations in the desmosomal protein genes of two unrelated patients with Naxos-Carvajal syndrome.

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and severe arrhythmogenic disorder. Although usually transmitted in a recessive form, few cases of dominant mutations have been reported. Thirteen mutations in the CASQ2 gene have been reported so far in association with CPVT.

Relative added value: what are the tools to evaluate it?

The relative added value of a drug is currently evaluated in France by the Transparency Commission (TC) of the National Health Authority (HAS), by assigning a level of Improvement in Actual Benefit (IAB). IAB is based on two parameters, efficacy and safety of the product, in a defined target population, either as compared to one or more other drugs with similar indications, or within therapeutic strategy. The items used for evaluation, including the level of clinical effect, the relevance of the comparator, the choice of comparison criteria and the methodology used (indirect comparison, non-inferiority studies, etc.

Relative Added Value: What are the Tools to Evalue it?

The relative added value of a drug is currently evaluated in France by the Transparency Commission (TC) of the National Health Authority (HAS), by assigning a level of Improvement in Actual Benefit (IAB). IAB is based on two parameters, efficacy and safety of the product, in a defined target population, either as compared to one or more other drugs with similar indications, or within therapeutic strategy. The items used for evaluation, including the level of clinical effect, the relevance of the comparator, the choice of comparison criteria and the methodology used (indirect comparison, non-inferiority studies, etc.