Automated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM).

Background And Aims: Hypertrophic cardiomyopathy (HCM) has various aetiologies, including genetic conditions like Fabry disease (FD), a lysosomal storage disorder. FD prevalence in high-risk HCM populations ranges from 0.3% to 11.

Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases.

Background: The worldwide Covid19 pandemic caused by the rapid spread of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) represented a unique challenge for patients and healthcare professionals. Patients with chronic rare diseases had to face novel burdens, like the inability to perform regular on-site visits or even difficulties in the supply of medication. Patients with Fabry disease (FD) are affected by a variety of organ manifestations leading to physical but also psychological burden and limitations, which are usually presented in low health-related quality of life (HR-QoL).

Echocardiographic predictors of outcome in severe aortic stenosis patients with preserved or reduced ejection fraction.

Aims: Transcatheter aortic valve implantation (TAVI) has emerged as the treatment of choice for many patients with severe symptomatic aortic stenosis. We sought to identify the echocardiographic predictors of 30-day and 1-year outcomes after TAVI in patients with preserved or reduced left ventricular ejection fraction (LVEF).

Methods: This single-centre study included 618 aortic stenosis patients (mean age 82 ± 6 years, 47.