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This life-threatening cardiovascular condition can lead to heart failure; is often inherited from parents

"It is a condition where defective proteins build up in the heart," Dr Jamshed Dalal, director, cardiac sciences, Kokilaben Dhirubhai Ambani Hospital, Mumbai, explained

heart health, healthy heart, heart issues, heart problems, detecting heart problems, transthyretin amyloid cardiomyopathy, indian express newsWhile most cardiologists are aware of amyloid cardiomyopathy, due to its rarity and diagnostic difficulties, detection of transthyretin amyloid cardiomyopathy is often missed. (Photo: Getty/Thinkstock)

There are many things that people can do for their heart health, and maintaining a healthy lifestyle is of paramount importance.

Along with that, there needs to be a lot of awareness on how to keep the heart functioning in a healthy manner and the signs and symptoms to watch out for that may signal health issues.

People ought to know that something called ‘amyloid cardiomyopathy’, which is often referred to as ‘cardiac amyloidosis’ can be a life-threatening rare disease. “It is a condition where defective proteins build up in the heart; heart failure results from its inability to function correctly due to this protein build-up,” explains Dr Jamshed Dalal, director, cardiac sciences, Kokilaben Dhirubhai Ambani Hospital, Mumbai.

According to the doctor, there are several causes of cardiac amyloidosis. Some people inherit it from their parents, while this ailment may be acquired by others on their own or as a result of other illnesses. “Cardiac amyloidosis cannot be cured; most forms can be managed and are treatable.”

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The doctor states that there are two types of cardiomyopathy:

1. Dilated cardiomyopathy, in which the heart’s blood pumping chambers become weak and dilate/enlarge, and the heart does not pump well.

2. Hypertrophic cardiomyopathy, where the heart muscle thickens, becomes restrictive, and its ability to receive blood is hampered. A very specific kind of hypertrophic cardiomyopathy is due to amyloidosis.

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Dr Dalal says ‘transthyretin amyloid cardiomyopathy’ (ATTR-CM) is a “rare but severe case of transthyretin fibrils building up in the heart muscles”, which can result in hypertrophic/restrictive cardiomyopathy.

“Transthyretin is a specific protein that transports vitamin A and thyroxine hormone — essential for muscle control and other systems — throughout the body. Transthyretin amyloid cardiomyopathy manifests as a new or worsening heart failure, and it can also affect the electrical system, impacting the heart’s rate and rhythm,” he explains. Its early detection, therefore, is important.

Without early detection and treatment, irreversible damage is possible and people often die within three years of the disease. (Photo: Getty/Thinkstock)

The expert adds that while most cardiologists are aware of amyloid cardiomyopathy, due to its rarity and diagnostic difficulties, detection of transthyretin amyloid cardiomyopathy is often missed.

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“In patients with hypertrophic cardiomyopathy, about 15 per cent are amyloid cardiomyopathy. It becomes necessary for physicians to suspect transthyretin amyloid cardiomyopathy. Young adults and people with carpal tunnel syndrome are often linked to this rare heart disease,” Dr Dalal cautions.

How is it detected?

“ECG often gives a clue, and 2D echocardiography indicates features of hypertrophic cardiomyopathy; cardiac MRI throws further light,” he states.

The most diagnostic test, however, is the pyrophosphate (PYP) nuclear scan, which makes it possible to accurately diagnose this rare form of cardiac amyloidosis. “This test is available in many hospitals, lasts for an hour or two, where the drug is administered intravenously and a special camera picks up the radioactive tracers that give a 3D image of the heart structure.”

“Without early detection and treatment, irreversible damage is possible and people often die within three years of the disease. Treatment of cardiac amyloidosis requires a multidisciplinary approach with a specialised inter-professional team of experts in cardiology, hematology, radiology and nuclear medicine,” the doctor concludes.

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First published on: 25-10-2022 at 10:00 IST
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