Cardiac amyloidosis is a serious disease that requires immediate interdisciplinary diagnostic clarification and treatment initiation in a specialised centre.

The Cardiac Amyloidosis Centre at the Department of Internal Medicine II is part of the Centre for Rare Diseases (ZSE) at Ulm University Hospital within the structures of the University Cardiology Outpatient Clinic. Its task is to diagnose, initiate treatment and care for patients with these comparatively rare but important cardiac diseases, which have received increasing attention in the recent past due to the developing therapeutic options. In order to do justice to this complex task, there are local and supra-regional collaborations, for example with the Institutes of Human Genetics and Pathology, the other clinics of the University Hospital (here in particular with the Department of Neurology), as well as the university amyloidosis centres in Baden-Württemberg, which have joined forces in a cardiac amyloidosis board. The cardiac amyloidosis board enables the professional exchange of experience and promotes the development of standardised diagnostic and treatment pathways. It also provides a central point of contact for patients and caring doctors, who can easily obtain specialist expertise at the highest level.

Amyloidosis is the umbrella term for a family of diseases. All forms have in common that there is a pathological increase in the production of proteins specific to the subtype (= amyloid), which the body cannot adequately "dispose of". Instead, the excess amyloid is deposited in various organs, which can more or less completely destroy organ functions. Amyloidoses can have a genetic, i.e. hereditary background, or be acquired, i.e. newly developed in the respective patient. Furthermore, amyloidoses are so-called multisystem diseases: The pathologically formed amyloid can be deposited with a characteristic pattern in various tissues and thus characterise the clinical picture. Accordingly, close interdisciplinary cooperation between the relevant specialities is of absolute importance, as this is the only way to make the complex diagnosis correctly and at an early stage.

The main forms of amyloidosis that lead to heart involvement are so-called light chain amyloidosis (AL amyloidosis) in the context of malignant blood diseases and transthyretin amyloidosis (ATTR amyloidosis), in which the transport protein for thyroid hormones formed in the liver is deposited in the heart muscle. The latter form was long regarded as an extremely rare disease, but recent studies show that the frequency of the age-associated form is significantly higher than previously assumed. Early detection of the disease is extremely important, as there are therapeutic procedures that can be used to stop the new production of pathological ATTR amyloid and thus freeze the disease. If this does not take place, ATTR amyloidosis leads to progressive cardiac insufficiency and even death.

The most important finding of cardiac amyloidosis is the thickening of the heart muscle due to the pathologically deposited protein. In addition, there are a number of diseases that also lead to an increase in wall thickness, particularly in the left ventricle. The differential diagnosis of the other causes of heart muscle thickening is therefore also part of the amyloidosis centre's remit, for which all modern examination procedures (including genetic testing, histological examinations, cardio-MRI, heart muscle biopsy) are available at the university medical centre.