Evo Terra (Host): Being smart about heart health is a good idea for all of us, and that includes knowing about cardiac amyloidosis. To help with that, I'm chatting with Dr. Nirav Shah, Medical Director of MSLC's Kaplan Family Center for Cardiovascular Medicine and Interventional Radiology. Welcome to DocTalk presented by Montefiore St. Luke's Cornwall. I'm Evo Terra. Thank you for joining me today, Dr. Shah. 

Niravkumar Shah, MD, FACC, FSCAI: Great to be here. 

Host: Let's start with the obvious question. What is cardiac amyloidosis? And why hasn't my cardiologist mentioned this to me? 

Niravkumar Shah, MD, FACC, FSCAI: So, it's a relatively old disease, but recently gained a lot of attention because we have much more tools available to diagnose it and treat it. In fact, the FDA recently approved many drugs regarding this particular disease. So let's start what's amyloidosis, right?

So it's a cardiac amyloidosis is a condition where abnormal protein called amyloid accumulates in the heart muscle. And what it does is that when it accumulates, it interferes with the heart's ability to pump the blood effectively leading to various symptoms and complications, but most of the symptoms and complication related to pump failure, what we call is a heart failure.

So that's the main condition that amyloidosis can cause. So again, that by definition is an abnormal protein, that just deposit into the heart muscle. 

How does it occur? It's just there are different types of amyloidosis. There are light chain, then there is something called ATTR, which is abbreviated form of transtheratine, which is kind of a protein that helps carry certain chemicals throughout your body.

And then this abnormal channelization that can cause this kind of abnormal gene or abnormal DNA that deposit and malfunction those proteins and that caused the amyloidosis. Again, it affects the heart, but it can affect the other part of the body such as kidney and liver. But since, we are talking mostly about the heart, I'll focus on that. 

Host: Right. So, who's at risk for this? 

Niravkumar Shah, MD, FACC, FSCAI: The risk are the age, right? I mean patients who are affected are more than age of 50. But again, there are certain kind of amyloidosis, that can also affect the patients as early as in their 20s. Because it also has some sort of genetic predisposition, and there are subtypes of ATTR, which is transferitin protein, those are inherited from the biological parents.

And in those patients may be at early age. But most of the time, what we see right now, it's age more than 50 and above. They are the one, of course, the men's are more affected than the women. So, 20 to 50 cases in men compared to one in women. And, certain countries, mostly the European countries, such as Portugal, Sweden, Finland, even in Japan; those are gene mutation causes familial amyloidosis. They are more prone to get in that kind of population. 

Host: Since some of this, has to do with genetics, is there a test that we should be doing? 

Niravkumar Shah, MD, FACC, FSCAI: There are genetic testing available. But I think, the more common tests such as an echocardiogram, just to look at the heart muscle and see certain kind of deflection, speculation, in that, but I think the more definite diagnosis is by biopsy. 

You can do the biopsy of the fatty tissue, especially underneath the skin under the belly, or even in certain cases, bone marrow biopsy can also diagnosed. Some sort of blood and urine test for the protein level that can also diagnose or suggestive of amyloidosis. But yes, biopsy is a more definite way to diagnose.

And of course, yeah, there is a genetic testing to rule out any mutation that causing this amyloidosis. 

Host: Is it fair to say that if you do not have the genetic predisposition, you are not going to get? 

Niravkumar Shah, MD, FACC, FSCAI: No, that's not true because, there are different kind of amyloidosis and one of them is a hereditary. But then the AL, which is 4000 new cases per year that we find, and again, only 4 percent of them, maybe 5, they are hereditary, but there are other cases are also age related, without genetic predisposition and it's just a degenerative disease.

I mean, certain patients, for example, those who are on dialysis, they are also prone to get the amyloidosis. Up to 20 percent of the dialysis patient after five to seven years, they are predisposed or prone to get this kind of disease. 

Host: And are there risk factors that we should be watching out for so that we can avoid having cardiac amyloidosis?  

Niravkumar Shah, MD, FACC, FSCAI: Most of those risk factors, as we mentioned earlier, the age, the sex, the male, again, certain things we cannot change, unfortunately. And, there are no obvious reversible cause. These are all certain things that is inevitable, as mentioned, age, sex, certain countries where we born or race.

I mean, the African American and the West African descent, they are tend to get more predisposition than the other races. And of course the dialysis patient, end stage renal disease patient who are on dialysis, they are at a high risk compared to the general populations. And those are the main risk factors. 

Host: How about symptoms? If someone listening to this says, oh my gosh, I might have this. Well, how would you know? 

Niravkumar Shah, MD, FACC, FSCAI: Right. So again, the symptoms are many a time it's generalized. So that's why sometimes it's confusing with someone has amyloidosis or just other conditions of the heart, but the main symptoms is patients with someone who have a heart failure such as shortness of breath, lower extremities and ankle and leg swelling, generalized fatigue, shortness of breath, generalized weakness, sometimes may get heart palpitations. In certain other cases, because of the heart failure symptoms, may get swollen liver, kidney problem, and so forth. So, I mean, again, those are the main symptoms. And sometimes, again, it's confusing with generalized heart condition, but yes, someone doesn't have heart condition in the past and started having those symptoms. Yes, one should at least look and make sure that they don't have amyloidosis, but there are certain rare conditions, rare symptoms that may occur without if they don't have involvement of the heart or liver or kidney, which includes unusual bruising, the bone marrow infiltration and causing that, swelling of the tongue, carpal tunnel syndrome out of nowhere, they're not high risk such as the computer or typist and all, but they get carpal tunnel syndrome or even spinal stenosis, some eye or hearing problems.

So again, it affects each and every organ, but I mean, those are the rare symptoms that one can have in setting of amyloidosis. 

Host: What do we do about it? Let's say someone has this diagnosis. What are we doing? 

Niravkumar Shah, MD, FACC, FSCAI: So again, I think first we need to see what kind of amyloidosis. The biopsy helps whether it's AL type or ATTR type, and then based on imagings and genetic testing, I think, probably one should have the staging of the amyloidosis and see what it is, how much is in involvement in other part of the body.

But then again, there are treatment and management available, including the chemotherapy drugs that hold or halt or destroy the abnormal plasma cell and prevent the further progression of the amyloid disease. There are targeted therapies also available. And there are few drugs are approved by FDA in recent years regarding treating specifically ATTR kind of amyloidosis.

So, yes, so there are certain treatments are available which may halt the progression. Some of them may reverse the cause. And it's a treatable thing. Can it be 100 percent cured? That still has to be determined. 

Host: Let's talk specifically about Montefiore St. Luke's Cornwall's approach to the care and treatment of patients with this condition. 

Niravkumar Shah, MD, FACC, FSCAI: We look specifically for certain risk patients to see whether they are having the issues when they present with the heart failure in the hospital. And, we look at the echocardiogram and we look at certain blood work analysis to make sure they are not having the amyloidosis.

And if they do, then they will get the appropriate channelization and protocol driven treatment, including the biopsies. And, sometimes we refer to tertiary care center for further in depth treatment and staging. Also, we do that as an outpatient in our clinic to look and make sure that they are not having the amyloidosis.

So, I mean, there are certain protocol driven investigation and treatment in certain age group and certain symptoms that we do look into it in very carefully and in depth. 

Host: You mentioned earlier that there's no 100 percent cure yet that we're hopeful on. But outside of a cure, what's the long term prognosis for someone who is diagnosed with cardiac amyloidosis? 

Niravkumar Shah, MD, FACC, FSCAI: Yeah. So the prognosis is again, depending on the symptoms, how much is the disease progress. And in, some cases, it helps reverse somewhat amyloidosis. Sometimes may cause life threatening organ damage without treatment. So again, depending on which stage patient present with and what kind of treatment that patient will require based on what kind of amyloidosis, right?

So again, early diagnosis, prompt treatment is very important. And if it's treated, yes, you can prevent the further progression and patient may lead normal life. They may have underlying condition, what we call is in remission, just like in any other cancer patients and they are treatable, but we have to diagnose early and treat early. 

Host: Well, this has been a fascinating conversation, Dr. Shah. Anything else you would like to add? 

Niravkumar Shah, MD, FACC, FSCAI: No, thank you. And I think patient awareness and symptoms very important to present to the healthcare provider to make sure that they don't have it. 

Host: Dr. Shah, thank you very much for your time today.

Niravkumar Shah, MD, FACC, FSCAI: Thank you. I appreciate it. 

Host: Once again, that was Dr. Nirav Shah, Medical Director of MSLC's Kaplan Family Center for Cardiovascular Medicine and Interventional Radiology. Thank you for listening to DocTalk, presented by Montefiore St. Luke's Cornwall. For more information, please visit montefioreslc.org. That's M O N T E F I O R E S L C.org. Please remember to subscribe, rate, and review this podcast and all the other Montefiore St. Luke's Cornwall podcasts. I'm Evo Terra, and this has been DocTalk, presented by Montefiore St. Luke's Cornwall.

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