The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy.

Background: Although the optimal approach is debated, systematic genetic screening for hypertrophic cardiomyopathy (HCM) is recommended.

Aims: The performance of this approach was tested in GEREMY, a HCM prospective observational French register.

Methods: Screening was based on a 12-gene panel, including the Fabry disease (GLA) and the transthyretin (TTR) genes.

Target population for a selective cardiac myosin inhibitor in hypertrophic obstructive cardiomyopathy: Real-life estimation from the French register of hypertrophic cardiomyopathy (REMY).

Background: The efficacy of current pharmacological therapies in hypertrophic cardiomyopathy is limited. A cardiac myosin inhibitor, mavacamten, has recently been approved as a first-in-class treatment for symptomatic hypertrophic obstructive cardiomyopathy.

Aims: To assess the profile and burden of cardiac myosin inhibitor candidates in the hypertrophic cardiomyopathy prospective Register of hypertrophic cardiomyopathy (REMY) held by the French Society of Cardiology.

The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe.

Genetics has begun to be considered a key medical discipline which can have an impact on everyday clinical practice. Therefore, it is necessary to understand what the most effective way is of caring for people affected by or at risk of genetic disorders. In this context, the team dealing with such patients has evolved with the emergence of the Genetic Counsellor figure.

Our midterm results of the Birmingham hip resurfacing with and without navigation.

We reviewed 148 consecutive hip resurfacings in order to assess the clinical outcomes of the BHR at midterm follow-up and to compare the accuracy of the navigation in the positioning of femoral component. We retrospectively analyzed 85 hips using the conventional jig to implant the femoral component and we prospectively followed 63 hips operated on by navigation. At a mean follow-up of 50.

Glomus tumour eroding the medial facet of the patella: a case report.

Glomus tumours are benign lesions occurring essentially in the hand, with a predilection for the subungueal area. Even though they have been reported in literature, extradigital localisations of glomus tumours are frequently misdiagnosed; they never lead to bone osteolysis. We report the case of a patient who presented with a typical patellofemoral syndrome due to a glomus tumour that eroded the medial facet of the patella.

Non-traumatic avulsion of the greater trochanter: a case report.

Apophyseal fracture affecting the greater trochanter is a rare injury in children. We report a case of non traumatic avulsion of the greater trochanter in a 13-year-old boy who presented with a history of pain about his right hip over the past few months. Hip radiographs, radioisotope bone scan and CT scan confirmed the diagnosis of avulsion of the greater trochanter with minimal displacement.