Scientific Publications

Genetics is becoming increasingly important in clinical care, emphasising effective management of genetic patients. A survey of 200 geneticists in Europe has underscored the pivotal function and competencies of genetic counsellors within multidisciplinary teams. Despite the fact that these professionals have yet to be universally acknowledged, they are of paramount importance for the delivery of patient care. The study calls for clearer role definition and wider recognition of genetic counsellors.

Sediments from Lake Piediluco exhibited minimal concentrations of persistent organochlorine pollutants (DDT, PCBs), exhibiting spatial and seasonal variations that are associated with hydroelectric activity. The contamination levels observed in this study were lower than those reported for larger Italian lakes, suggesting that local sources may be the primary contributors to the contamination. The presence of polychlorinated dioxins and furans was found to be minimal. Sediment quality has been found to pose a low ecological risk.

This comprehensive review examines the expanding genetic landscape of dilated cardiomyopathy, highlighting the role of non-sarcomeric genes in disease pathogenesis. The paper proposes an updated genetic testing strategy incorporating emerging gene panels and discusses implications for family screening.

A systematic genetic screening procedure for hypertrophic cardiomyopathy (HCM) was conducted on 748 adults from the French GEREMY registry. A 12-gene panel was utilised to detect pathogenic variants, with a detection rate of 39.6%, predominantly in sarcomeric genes. The expanded panels facilitated enhanced diagnosis, revealing cases of Fabry disease (~1%) and hereditary transthyretin (TTR) amyloidosis (~3.5%). The results of the screening programme indicated that the younger patients and those with a family history were more likely to exhibit a higher yield.

Genetic testing has been shown to identify pathogenic ALVC gene variants in approximately 30% of DCM patients, thus aiding diagnosis and management. A predictive model incorporating family history, atrioventricular block, atrial fibrillation, and LVEF ≥40% demonstrated strong accuracy. The utilisation of this instrument facilitates the prioritisation of patients for expeditious genetic evaluation and treatment.

In the French REMY registry, which contains data on 1059 adults diagnosed with hypertrophic cardiomyopathy (HCM), 30.7% were identified as candidates for cardiac myosin inhibitor (cMI) therapy, specifically mavacamten. Following a median follow-up period of 66 months, there was a 9% increase in the number of patients who became eligible for cMI treatment. The candidates exhibited symptoms consistent with obstructive HCM and were typically treated with beta-blockers or verapamil. Some of the candidates underwent septal reduction therapy. The study indicates that approximately one-third of real-world HCM patients may benefit from cMI.

The present study analysed 3,158 individuals from 1,043 families with TTN truncating variants (TTNtv), the most common genetic cause of dilated cardiomyopathy (DCM). TTNtv carriers exhibited a 21-fold elevated risk of developing DCM, with an earlier onset observed in males and those exhibiting clinical risk factors, such as atrial fibrillation. It is noteworthy that preventive treatment with beta-blockers or renin-angiotensin system inhibitors prior to the onset of symptoms resulted in a substantial reduction in DCM risk, reaching 87%. The findings of the present study suggest that disease expression is contingent on individual factors and can be mitigated by the management of risk and early therapy.

Cardiac involvement is a common occurrence in neuromuscular diseases, manifesting as conduction defects, arrhythmias, or various cardiomyopathies. The cardiac manifestations exhibit significant variability depending on the underlying genetic cause, necessitating a disease-specific management approach. Cardiac complications are a primary contributing factor to the diminished life expectancy observed in this patient population. The importance of early screening and personalised treatment in improving outcomes cannot be overstated.

In a randomised, placebo-controlled trial, irbesartan was found to significantly reduce the risk of severe arterial events in patients with vascular Ehlers-Danlos syndrome already treated with celiprolol. The pharmaceutical compound also demonstrated the capacity to decelerate the progression of arterial lesions, in addition to reducing blood pressure levels. These results suggest a potential benefit of adding irbesartan in this high-risk population.