Cardiac Amyloidosis
Cardiac amyloidosis (commonly referred to as a “stiff heart”) is when amyloid deposits occur in the heart, replacing normal heart tissue and leading to thickened heart muscle and restrictive cardiomyopathy.
What is cardiac amyloidosis?
What are the causes of cardiac amyloidosis?
What are the signs and symptoms of cardiac amyloidosis?
What are the possible tests to detect cardiac amyloidosis ?
What are the possible procedures and treatments for cardiac amyloidosis?
What is the future plan if you have a cardiac amyloidosis?
What is cardiac amyloidosis?
Amyloidosis is a group of conditions when an abnormal protein, called amyloid, builds up in body organs and affects their function. Cardiac amyloidosis (commonly referred to as a “stiff heart”) is when these amyloid deposits occur in the heart, replacing normal heart tissue and leading to thickened heart muscle and restrictive cardiomyopathy.
Cardiac amyloidosis may also affect the heart rhythm causing slow heart rhythms (conduction system disease) or extra abnormal beats (atrial fibrillation and other arrhythmias).
What are the causes of cardiac amyloidosis?
There are two main subtypes of cardiac amyloidosis; ATTR and AL.
The first (ATTR) is a condition which may be inherited or associated with the aging process. The second is as a result of blood and bone cancer.
There are other rarer causes of cardiac amyloidosis which can be related to inflammation but occur in less than 2% of cases.
What are the signs and symptoms of cardiac amyloidosis?
The symptoms can be nonspecific but commonly include:
- Shortness of breath
- Fatigue
- Swelling of the legs
- Palpitations
- Light-headedness or loss of consciousness
- Abnormal sensation in your hands or feet
- History of carpal tunnel syndrome or tendon rupture
What are the possible tests to diagnose cardiac amyloidosis?
Your doctor will perform several tests to diagnosis cardiac amyloidosis. These will include but are not limited to;
- Blood and urine test – to check for enzymes that indicate damage to the heart muscle and for evidence of blood or bone cancer
- ECG – an electrical recording of your heart’s activity
- Echocardiogram – an ultrasound of your heart which looks for the increased thickness of the heart muscle, assess the heart contraction and the valves
- Bone scan – to assess for specific protein (transthyretin) in the heart
- Chest MRI – see how your heart is working and if there is evidence of protein deposits or scar in your heart
- Biopsy – some patients may require a biopsy of their heart tissue, bone marrow, or from their mouth to correctly diagnosis the subtype of cardiac amyloidosis.
What are the possible procedures and treatments for cardiac amyloidosis?
If you have been diagnosed with cardiac amyloidosis, there are some new treatments available that may help symptoms and quality of life. Treatment for cardiac amyloidosis depends on the subtype. Some of the treatments may include;
- Medications – including some trial medications
- Chemotherapy – for patients with cardiac amyloidosis associated with bone and blood cancer
- Transplantation - some patients may need stem cell or heart transplantation long term.
What is the future plan if you have cardiac amyloidosis?
It is important that you see a doctor who specialises in the care and treatment of cardiac amyloidosis. Your doctor will work out the best way to manage your condition, and you’ll be given a treatment plan which is important to understand and follow.
It’s a promising time for patients with cardiac amyloidosis, due to the rapid increase in therapies available. The St Vincent’s Hospital Cardiac Amyloidosis Clinic is a multi-disciplinary treatment clinic, which means you can access heart, neurological, genetic and blood specialists in one place at one appointment.
Our staff are all specialists in this condition and are committed to continuing advances in treatment to help you live a fulfilling, healthy life. The Victor Chang Cardiac Research Institute is leading Australian research into cardiac amyloidosis. If you have cardiac amyloidosis and would like to be involved in the research program, or access the clinic, please email amyloidreferrals@svha.org.au.
St Vincent's Hospital cardiac amyloidosis resource guides
Our cardiac amyloidosis specialists have created the following resources for patients, carers and clinicians:
For patients and carers:
For clinicians:
A useful website that can help you to connect with others is the Australian Amyloidosis Network.
Cardiac Amyloidosis Clinical Trials at St Vincent’s Hospital
St Vincent’s is at the forefront of cardiac amyloidosis research and treatment. As this is a developing area in medicine, clinical trials are important for developing and providing access to treatments.
What is a clinical trial?
A clinical trial is a study that investigates how people respond to a new treatment, test or intervention. Clinical trials help us determine if new treatments are safe and effective.
Why are clinical trials important?
Clinical trials are essential for developing new treatments and advancing health care. Clinical trials an also give study volunteers access to free drug treatments before drugs are approved and available on the Pharmaceutical Benefits Scheme (PBS).
Would you like to participate in a Cardiac Amyloidosis clinical trial?
From time to time we have vacancies in our cardiac amyloidosis clinical trials at St Vincent’s Hospital. For all enquiries, please contact the team on amyloidreferrals@svha.org.au.