Cardiac amyloidosis and surgery. What do we know about rare diseases? Carlos Mestres1 and Mathias van Hemelrijck2 1University Hospital Zurich 2UniversitatsSpital Zurich May 3, 2021 Commentary to JOCS-2020-RA-1888 JOCS-2020-RA-1888 Cardiac amyloidosis in non-transplant cardiac surgery Cardiac amyloidosis and surgery. What do we know about rare diseases? Running Title: Cardiac amyloidosis and cardiac surgery Carlos { A. Mestres MD PhD FETCS1, 2, Mathias Van Hemelrijck MD1 1 - Clinic of Cardiac Surgery, University Hospital Zurich,¨ Zurich¨ (Switzerland) 2 - Department of Cardiothoracic Surgery, The University of the Free State, Bloemfontein, (South Africa) Word count (All): 1173 Word count (Text): 774 Key words : Cardiac amyloidosis, cardiac surgery, rare disease Correspondence: Carlos A. Mestres, MD, PhD, FETCS Clinic for Cardiac Surgery University Hospital Zurich,¨ R¨amistrasse 100 CH 8091 Zurich¨ (Switzerland) Email:
[email protected] Rare diseases are serious, chronic and potentialy lethal. The European Union (EU) definition of a rare disease is one that affects fewer than 5 in 10,000 people (1). In the EU, these rare diseases are estimated to affect up to 8% of the roughly 500 million population (2). In the United States, a rare disease is defined as a condition affecting fewer than 200,000 people in the US (3). This a definition created by Congress in the Orphan Drug Act of 1983 (4). Therefore, the estimates for the US are that 25-30 million people are affected by a rare disease. There are more than 6000 rare diseases and 80% are genetic disorders diagnosed during childhood. Despite all community efforts, there are still a lack of an universal definition of rare diseases.