Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a rare heart disease. Early diagnosis is critical

New Delhi [India], November 18 (ANI/Mediawire): Often, heart disease symptoms are not paid adequate attention by a large section of the Indians unless the disease reaches an advanced stage. The studies(1) on the burden of cardiovascular diseases have revealed that the casualty rate due to CVD at 272 per one hundred thousand population in India is much higher than that the global average of 235. Bedside high mortality rate, Indians need to be concerned about the stark fact that CVDs strike our brethren ten years earlier than their western counterparts. This ever-growing menace led to strengthening of the efforts to spread awareness and knowledge about CVDs over the last decades. However, the prevalence of rare heart diseases has failed to attract the due recognition leading to lack of knowledge resulting in extremely late diagnosis and treatment IHW council initiative, supported by Pfizer, held a live online seminar on 4th November 2022 in association with TOI to increase knowledge on one of the lesser-known rare diseases, Transthyretin Amyloid Cardiomyopathy.
Speakers for the day were:
Dr. V K Chopra: Senior Director, Cardiology, Max Super specialty Hospital, Saket, Delhi
Dr. Nitin Burkule: Director, Dept of Cardiology, Jupiter Hospital, Thane, Maharashtra
Dr. Prakash Kumar Hazra: Head of department, Cardiology, AMRI hospital, Kolkata, West Bengal
Dr. Aparna U Sinha: Consultant Pediatrician at Organization for rare diseases India.



"There are more than seven thousand rare diseases reported be prevalent worldwide. In India, almost seventy million people are afflicted with curse of rare diseases. Rare diseases include inherited cancers, autoimmune disorders, congenital malformations, and infectious diseases, including Hemangiomas, Hirschsprung disease, Gaucher disease, Cystic fibrosis, Muscular dystrophies, and other Lysosomal Storage Disorders", rued Dr. Aparna.
She further added average time of diagnosis of rare diseases is six years due to a lack of general information. Organization for Rare diseases in India is a non-profit organization representing the collective voice of all patients plagued with rare diseases in India. ORDI's mission is to be the solid united voice for all rare diseases in India, reduce inequalities, and ensure that people with rare diseases have equal access to the resources as enjoyed by other segments of the population.

Dr. Hazra remarked - "what the mind does not know, the eyes do not see. We do not have many treatment options for cardiac amyloidosis therefore, it was not much discussed. The availability of newer imaging techniques has made it much easier to diagnose rare diseases. Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is an under-diagnosed and potentially fatal disease. It can affect anyone but has a propensity for elderly male predominance. The deposition of amyloid protein may occur in the heart walls resulting in abnormal beating of the heart or may precipitate on the tongue causing tongue enlargement or it accumulates in the muscles resulting in abnormal contraction of muscles."
ATTR-CM is characterized by build-up of amyloid protein fibrils on the walls of the left ventricle, the heart's main pumping chamber. The amyloid protein deposits on the heart walls and as heart has low clearance, the walls they become stiff, resulting in the inability of the left ventricle to relax and fill with blood appropriately and adequately squeeze to pump blood out of the heart.

Dr. Nitin Burkule [1] drew attention to the fact that in India information about ATTR-CM is low among medical fraternity making it more difficult to diagnose. He said - "The body's clearance level has gone down and abnormal deviation of protein production, resulting in cardiac amyloid. It may be a natural process of ageing and becomes dominant beyond the age of eighty."
The diverse types of ATTR-CM, are
- Hereditary: there is a mutation in the transthyretin gene, and people can present at age of forty years.
- Wild-type ATTR-CM: There's no mutation in the transthyretin gene with this disease. Cause is unknown
Dr. Hazra narrated the red flags of ATTR CM are like those associated with heart failure and include:
- Numbness or tingling in the hands and feet called neuropathy
- Biceps rupture - Even at the age of eighty the muscles look pumped but when they try to lift weight it results in Biceps rupture
- Carpal Tunnel Syndrome
- Macroglossia - abnormally large tongue that it does not fit into the mouth, and it pops out causing difficulty in eating.
Common investigations include electrocardiogram, chest x-ray suggestive of large cardiac shadow as compared to chest. Echocardiography is a bottleneck and there is thickening of heart muscles i.e., >12mm. Radionuclide scan, technetium pyrophosphate scan is pathognomic scans for amyloidosis that are pocket friendly and easily available in various hospitals. Certain biomarkers such as Pro-BNP and Ca-125 will be raised.
It has been observed that elderly people get afflicted by ATTR-CM as compared to youngsters. Three percent of population above the age of sixty-five years have amyloid deposition and fifteen per cent above the age of eighty-five years. Dr. Nitin Burkule said that the awareness about the disease among healthcare professionals has gone up.

Dr. Chopra exclaimed that this disease is a great mimic. He stated - "Conditions like high blood pressure, age related changes, hypertrophic cardiomyopathy present with similar changes. Certain typical features may be present in their entirety or in a subtle form. So, the focus should be to pick up those changes. If a person with high blood pressure suddenly finds that hypertension is not present anymore, it may indicate towards amyloidosis. Even though it is not the case for everyone but can happen."
Once patients present with symptoms and a diagnosis is made, the prognosis is poor. With ATTR-CM, doctors focus on easing heart failure symptoms and slowing or stopping the formation of amyloid deposits. Certain drugs known as transthyretin stabilizers are available for the management of the disease preventing formation of new proteins but not remove the already present fibers. If the individual is not responding to usual treatment, then heart transplant is the only option.
Scintigraphy is a test that uses a substance called a tracer and a scanning machine to create detailed images of the heart. If the tracer finds amyloid proteins in the heart, it will bind to them and light up on the pictures of your heart like a "heat map with a hot spot."

Complications of the ATTR-CM include:
- Shortness of breath
- Low flow low gradient aortic stenosis
- Swelling in the feet, ankles, and legs
- Palpitations
- ventricular ectopics or abnormal heart rhythms
- Inability to respond to standard medications
- Sudden cardiac arrest from which they have been revived
- Heart Failure
As this is a rare disease, patients must be alert about the symptoms and should talk to their health care providers about management options. Early diagnosis is critical. If a family member has been diagnosed with ATTR-CM, the first-degree relatives should be screened as early as possible.
(1) Source - Article published in the Medical Journal, Armed Forces of India titled Cardiovascular disease in India: A 360 degree overview,
This is an IHW Council awareness initiative supported by Pfizer. Please consult your doctor for guidance on the information stated herein or further information on the subject. The content herein is meant for informational and awareness purposes only and should not be construed as a substitute for medical advice. The views expressed herein by the author are their own independent views and Pfizer may not necessarily endorse the same. While due care and caution has been taken to ensure that the content is free from mistakes or omissions, Pfizer makes no representations or warranties of any kind, expressed or implied, as to the accuracy, completeness or adequacy of the contents herein and will not be liable for any damages, adverse events, and personal liability arising therefrom.
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