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. METHODS: Data were collected at baseline and during follow-up from patients with hypertrophic cardiomyopathy enrolled in REMY by the three largest participating centres. RESULTS: Among 1059 adults with hypertrophic cardiomyopathy, 461 (43.5%) had obstruction; 325 (30.7%) of these were also symptomatic, forming the "cardiac myosin inhibitor candidates" group. Baseline features of this group were: age 58±15years; male sex (n=196; 60.3%); diagnosis-to-inclusion delay 5 (1-12)years; maximum wall thickness 20±6mm; left ventricular ejection fraction 69±6%; family history of hypertrophic cardiomyopathy or sudden cardiac death (n=133; 40.9%); presence of a pathogenic sarcomere gene mutation (n=101; 31.1%); beta-blocker or verapamil treatment (n=304; 93.8%), combined with disopyramide (n=28; 8.7%); and eligibility for septal reduction therapy (n=96; 29%). At the end of a median follow-up of 66 (34-106) months, 319 (98.2%) were treated for obstruction (n=43 [13.2%] received disopyramide), 46 (14.2%) underwent septal reduction therapy and the all-cause mortality rate was 1.9/100 person-years (95% confidence interval 1.4-2.6) (46 deaths). Moreover, 41 (8.9%) patients from the initial hypertrophic obstructive cardiomyopathy group became eligible for a cardiac myosin inhibitor. CONCLUSIONS: In this cohort of patients with hypertrophic cardiomyopathy selected from the REMY registry, one third were eligible for a cardiac myosin inhibitor.

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. The profession of Genetic Counsellor appeared in Europe in 1980, but it is still a much-debated profession and not yet recognized in all European countries. The aim of this research is to investigate both how a team should be composed in the care of patients affected by or at risk of genetic disorders and what the role of the Genetic Counsellor should be-the field of action and the competences. The research has been carried out at the European level, submitting an online questionnaire to geneticists who, having the ultimate responsibility for the diagnosis and being in the field for the longest time, expressing their opinion, can identify strengths and potential areas for improvement in genetic care. 200 responses were collected from all over Europe. This led to awareness of the importance of the role of the counsellor within the medical genetics multidisciplinary team, and, above all, what the counsellor's skills and qualifications should be-for geneticists. Although this new profession has difficulties in being recognized in some countries, it seems clear that these highly competent professionals are essential for in-patient care and in the multidisciplinary team.

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 50.54 months, the Harris hip score improved significantly from 44.66 preoperatively to 98.45 postoperatively without any differences between the groups. Radiologically, we classic navigated group. Our clinical outcomes are excellent at midterm follow-up and the navigation definitely improves the implant position in both planes.

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. MRI, which is the gold standard for the diagnosis, showed a well-delineated spherical tumour with enhancement after Gadolinium injection. CT Scan excluded an osteoid osteoma and showed the erosion of the patella. The lesion was surgically resected and the histological examination established the definitive diagnosis.

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. The symptoms resolved after percutaneous in situ lag screw fixation. Radiographs 18 months after treatment showed fusion of the trochanteric physis.