Arq. Bras. Cardiol. 2022; 118(2): 433-434

Amyloidosis for Cardiologists

Roberto Coury Pedrosa

DOI: 10.36660/abc.20210959

This Short Editorial is referred by the Research article "Clinical, Laboratory, and Imaging Profile in Patients with Systemic Amyloidosis in a Brazilian Cardiology Referral Center".

We now know that cardiac amyloidosis (CA) is more frequent than traditionally considered and that it is particularly relevant in patients over 65 years with heart failure or aortic stenosis. Nowadays, given the relevance of CA for cardiologists, its prevalence is still a problem, and efforts must be made to speed up diagnosis and maximize opportunities for new disease-modifying treatments. ^– In Brazil, it is estimated that there are more than 5,000 patients with the transthyretin amyloidosis variant (ATTRv) with polyneuropathy, where cardiac involvement also plays an important role. We found that 26% of patients with V30M ATTRv-PN from our referral center registered in THAOS are late-onset cases (LO). In these patients, we found interventricular septum hypertrophy in almost 70% and abnormal ECG in almost 90%. Interestingly, 78% of the patients with LO-V30M and cardiomyopathy did not have symptoms of heart failure.

In our country, there are neither public nor private health policies specifically designed to monitor and follow-up patients with CA. Similarly, very little is known about the repercussions of this disease on mortality rates. ^– Many structural barriers are difficult to overcome, such as lack of implementation of screening programs and lack of validated diagnostic tests, particularly in rural areas. There is no entity that monitors these processes, and positive cases may not receive confirmation or access to treatment. The genetic sequencing of the TTR gene is a new tool, but it is not yet available in general laboratories; it is restricted to clinical research in hospitals or universities. We believe that many patients with CA die from this disease due to lack of appropriate and adequate medical care. ^, We consider it urgent to adopt measures that can improve this situation.

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