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Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations.Methods: As a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography.Results: The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p=0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p=0.085). Laboratory analyses revealed normal levels of creatinine (85.5±18.3 vs. 81.3±16.4 µmol/l; p=0.487) and blood urea nitrogen (10.2±15.6 vs. 6.9±3.9 mmol/l; p=0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients caring MYH7 mutation (33% vs. 10%; p=0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p=0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p=0.001). The difference in diastolic function, i.e. E/e’ ratio between the two groups was also noted (MYBPC3 8.8±3.3, MYH7 13.9±6.9, p=0.079).Conclusions: Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3.

BackgroundPrimary care physicians lack access to an objective cardiac function test during diagnostic testing for suspected heart failure.AimTo determine the role of the novel Cardiac Output Response to Stress (CORS) test in the current diagnostic pathway for heart failure and the opportunities and challenges to potential implementation in primary care.MethodQualitative study using semi-structured in-depth interviews which were audiorecorded and transcribed verbatim. Data from the interviews were analysed thematically using an inductive approach. Fourteen healthcare professionals (six males, eight females) from primary (GPs, nurses, healthcare assistants, and practice managers) and secondary care (consultant cardiologists) participated.ResultsFour themes relating to opportunities and challenges surrounding the implementation of the new diagnostic technology were identified. These reflected that adoption of CORS test would be an advantage to primary care but the test had barriers to implementation which include establishment of clinical utility, suitability for immobile patients, and cost implication to GP practices.ConclusionThe development of a simple non-invasive clinical test to accelerate the diagnosis of heart failure in primary care maybe helpful to reduce unnecessary referrals to secondary care. The CORS test has the potential to serve this purpose however, factors such as cost-effectiveness, diagnostic accuracy, and seamless implementation in primary care have to be fully explored.