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How a protein disorder can cause clumps in your heart, especially in men over 60

Transthyretin cardiac amyloidosis (ATTR-CM) is caused due to gene mutation that causes protein to deposit itself and stiffen your heart’s main pumping chamber, making it harder for your heart to pump blood to your body, says Dr Mohammed Rehan Sayeed, Consultant, Cardiovascular and Thoracic Surgery, Manipal Hospital, Bengaluru

heartCalled transthyretin cardiac amyloidosis, it is a rare but fatal disease and while current treatments can relieve some of the symptoms, they cannot cure the disorder. (Source: Freepik)
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How a protein disorder can cause clumps in your heart, especially in men over 60
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Recent research has held up hope for heart patients in whom toxic proteins build up in the heart muscle, particularly the left ventricle or the heart’s pumping chamber, and cause heart failure. Called transthyretin cardiac amyloidosis, it is a rare but fatal disease and while current treatments can relieve some of the symptoms, they cannot cure the disorder.

Which is why I find the study published in the New England Journal of Medicine, in which researchers from the University College London have reported the spontaneous recovery of three patients with antibody treatment, very encouraging and almost a breakthrough. Transthyretin cardiac amyloidosis (ATTR-CM) is caused due to the mutation in a gene known as Transthyretin (TTR).  This is produced in the liver and transports thyroxine and retinol (Vitamin A) in the body. Mutation in this gene leads to the formation of insoluble amyloid deposits in the myocardium, causing it to become rigid, thereby, resulting in congestive cardiac failure. Although this disease is not reversible, early diagnosis and treatment will slow the progression of the disease and provide symptomatic relief. Usually diagnosed in men over the age of 60, this manifests as irregular heartbeats, be it arrhythmias or atrial fibrillation.

So, what did the researchers find? They found an immune response caused by antibodies in the three men that specifically targeted amyloid deposits. These amyloid-targetting antibodies were not found in 286 of the other patients whose condition progressed as normal. While previous antibody treatment studies have confirmed that this method can remove amyloid deposits from abdominal viscera, this is the first firm that a similar result is being observed in the heart. So, the researchers suggest that if these antibodies can be harnessed, they could be combined with new therapies being trialled that suppress TTR protein production. While more tests are needed to confirm the efficacy of antibodies, the research definitely opens up the prospect of a new line of treatment. Amyloids take years to deposit, and this new kind of immunotherapy might stall that process.

For a long time, this heart disease was thought to be a genetic condition only but then we have found them to be developing in some regular patients too. The symptoms usually manifest as a shortness of breath at the slightest activity, a bloated stomach, coughing, wheezing and a general sense of disorientation, palpitations and arrythmia, exhaustion, dizziness and passing out. The worst part about the deposition of abnormal protein clumps is that they end up affecting the spine, leading to spinal stenosis and they even narrow down your aortic valve. Currently, there are medications that bind to the TTR protein and slow down the process of clumping.

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Sometimes symptoms overlap with other heart conditions and can go undetected until severe problems like heart failure occur. Usually tests include an electrocardiogram, cardiac imaging like echocardiogram, MRIs and PET scans. A bone scan can help identify the deposits. Then there is heart biopsy and tests to look for changes to the TTR gene. But thanks to new research and trials, there is hope for treating this heart condition yet and prolonging life.

First published on: 20-06-2023 at 13:28 IST
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