Rare cardiovascular diseases: diagnostic progress and organizational gaps: the Belgian perspective

Rare cardiovascular diseases represent a heterogeneous group of conditions that are individually uncommon but collectively significant. They include inherited cardiomyopathies, infiltrative and metabolic disorders, channelopathies, aortopathies, as well as rare vascular syndromes and some congenital heart diseases. Over the last decade, major advances in multimodality imaging, genetic testing, and targeted therapies have substantially improved diagnostic accuracy and clinical outcomes. Patient-tailored management and disease-modifying treatments, particularly for cardiomyopathies and selected metabolic disorders, illustrate the transition towards precision medicine in the field. Despite these scientific advances, important organisational challenges remain. In Belgium, eight centres are recognised as reference hospitals for rare diseases since 2014, but high-level expertise and advanced technologies are available in more tertiary centres and care pathways for rare cardiovascular diseases remain fragmented. The recent Plan rare disease 2026-2030 with a development of a Central Rare Disease Registry and the extension of structured rare disease event registration to all medical services represent important steps towards improved epidemiological monitoring and coordination. However, formally organising a national network dedicated to rare cardiovascular diseases is a challenge to offer uniform access to specialised care. The framework for collaboration of the reference centres with the different partners over the lines of care, the establishment and support of multidisciplinary clinics, the development of generic and personalised care pathways and national registries are key steps towards more coordinated, equitable, and efficient management of patients with rare cardiovascular diseases in Belgium.