Sustained Ventricular Tachycardia as the first presentation of transthyretin amyloid cardiomyopathy.

Transthyretin Amyloid Cardiomyopathy (ATTR-CM) was considered an uncommon disease until a few years ago, but advances in the epidemiology and non-invasive diagnostic tests have increased its timely detection. We report a 71 years-old man with history of hypertension and an incidental carcinoma of the left kidney detected 6 years ago, without heart failure who was performed cardiac magnetic resonance images (MRI) by suspicion of hypertrophic cardiomyopathy. Before his cardiologist be aware of the result, he suffered a severe sustained ventricular tachycardia (SVT) that required emergency cardioversion.

Overview of patients' cohorts in the French National rare disease registry.

In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature. Overall, 753,660 patients were recorded from 2007 to March 2022 including 493,740 with at least one rare disease diagnosis.

Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study.

Background: Preliminary data suggest that COVID-19 pandemic has generated a switch from face-to-face to remote care for individuals with chronic diseases. However, few data are available for rare and undiagnosed diseases (RUDs). We aimed to assess the impact of the COVID-19 pandemic on the activities of the French reference network for RUDs in 2020.

The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease.

Background: BaMaRa allows the secure collection and deidentified centralization of medical data from all patients followed-up in a rare disease expert network in France, based on a minimum data set (SDM-MR). The present article describes BaMaRa information system implementation and development across the whole national territory as well as data access requests through BNDMR, the data warehouse which centralizes all BaMaRa data, during the 2015-2020 period.

Materials And Methods: SDM-MR is made up of 60 interoperable items and is routinely collected through BaMaRa in rare disease centers as part of care and discharged into BNDMR after deidentification and data reconciliation.