Rare cardiovascular diseases affect 5% of the world’s population. Rare disease training for clinicians is essential to suspect and diagnose underlying rare diseases and to work effectively with patients to navigate uncertain health-care journeys. To raise awareness, Nature Reviews Cardiology has partnered with Medics for Rare Disease to produce a Collection of articles on rare cardiovascular diseases.
This is a preview of subscription content, access via your institution
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$32.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$189.00 per year
only $15.75 per issue
Buy this article
- Purchase on SpringerLink
- Instant access to the full article PDF.
USD 39.95
Prices may be subject to local taxes which are calculated during checkout
References
Nguengang Wakap, S. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173 (2020).
World Heart Federation. Rare & neglected cardiovascular diseases. world-heart-federation.org https://world-heart-federation.org/world-heart-day/rare-cardiovascular-diseases/ (2026).
United Nations General Assembly. Addressing the challenges of persons living with a rare disease and their families. un.org https://docs.un.org/en/A/RES/78/173 (2023).
World Health Organization. Rare disease: a global health priority for equity and inclusion. who.int https://apps.who.int/gb/ebwha/pdf_files/WHA78/A78_R11-en.pdf (2025).
Baynam, G., Boycott, K. M., Johnson, K. & Mckay, L. Language in rare disease: a call for systemic and empathetic action. Lancet 407, 1216–1218 (2026).
Rohani-Montez, S. C. et al. Educational needs in diagnosing rare diseases: a multinational, multispecialty clinician survey. Genet. Med. Open 1, 100808 (2023).
Faye, F. et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur. J. Hum. Genet. 32, 1116–1126 (2024).
Al-Attar, M., Butterworth, S. & McKay, L. A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease. Orphanet J. Rare Dis. 19, 172 (2024).
Genetic Alliance UK. Good diagnosis: improving the experience of diagnosis for people with rare conditions. geneticalliance.org.uk https://geneticalliance.org.uk/wp-content/uploads/2024/01/Rare-Disease-UK-Good-Diagnosis-Report-2022-Final.pdf (2022).
Spencer-Tansley, R., Meade, N., Ali, F., Simpson, A. & Hunter, A. Mental health care for rare disease in the UK – recommendations from a quantitative survey and multi-stakeholder workshop. BMC Health Serv. Res. 22, 648 (2022).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors are employed by Medics for Rare Disease, a charity registered in England and Wales (1183996) that advocates for integrated rare disease training in medicine.
Additional information
Related links
Medics for Rare Disease: https://www.m4rd.org/
Rare cardiovascular diseases: https://www.nature.com/collections/rarecvd
Rights and permissions
About this article
Cite this article
Huskinson, E., Maginnis, H. & McKay, L. Medics for Rare Disease: advocating for rare disease training. Nat Rev Cardiol 23, 379–380 (2026). https://doi.org/10.1038/s41569-026-01291-x
Published:
Version of record:
Issue date:
DOI: https://doi.org/10.1038/s41569-026-01291-x
