We continue to live through a public health tragedy. If there is any hope to be drawn from so much
hardship and loss, it’s that COVID-19 has reignited new conversations about disease awareness and the inequality that still exists in our healthcare system.
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As a cardiologist practicing in New York City, who has been treating heart disease for nearly 30 years,
I’ve witnessed how delayed visits can impact care within our community. It is always upsetting when
patients come to my office with advanced heart disease that potentially could have been diagnosed and treated earlier.
That’s why there is one condition I want every patient to be aware of. It’s called transthyretin amyloid
cardiomyopathy, or ATTR-CM. ATTR-CM is a serious and often underdiagnosed cause of heart failure.
ATTR-CM is a progressive disease, in which over time the heart muscle begins to thicken and stiffen.
There are two types of ATTR-CM; the wild type, which is associated with aging, and the hereditary type, which is associated with a gene change (mutation) and can be passed down from a relative. The most common mutation in the United States, known as V122I, is found almost exclusively in African
Americans. Approximately 3% to 4% of African Americans are thought to have the V122I mutation,
although not all individuals with the V122I mutation develop symptoms of hereditary ATTR-CM.
While heart failure is common among Black communities, hereditary ATTR-CM in these populations is
often overlooked by doctors for several reasons. In fact, some patients with ATTR-CM say they visited up to five doctors before receiving an accurate diagnosis.
This is why I am excited to be partnering with Pfizer on Voices for the Heart in Brooklyn – a community-based initiative bringing together physicians and trusted local organizations within Black, African American, and Afro-Caribbean communities around the country to increase awareness of hereditary ATTR-CM as an often-underdiagnosed cause of heart failure.
Early signs of ATTR-CM can include an irregular heartbeat, fatigue, shortness of breath, carpal tunnel
syndrome, swelling in the hands and feet, and numbness and tingling in the hands. Some of these
symptoms are not traditionally associated with heart disease, which may contribute to multiple doctor’s appointments and a delayed or incorrect diagnosis.
I’m committed to spreading awareness of hereditary ATTR-CM because I have seen firsthand how a
delayed diagnosis can adversely impact a patient (and their loved ones), making it essential to inform
our community about this condition – including everyone from patients to caregivers to local healthcare providers.
If you’re experiencing seemingly unrelated signs and symptoms (e.g., irregular heartbeat, fatigue,
shortness of breath, or carpal tunnel syndrome), have a family history of cardiac issues, and have been diagnosed with heart failure, talk to your primary care doctor or an experienced cardiologist. Whether they seem related or not, it’s important to share your symptoms and health history. This will allow your doctor to provide the care you need and to make an appropriate diagnosis.
Family members and caregivers also have an important role to play because they sometimes notice or
remember health symptoms that the patient may forget or neglect to mention and help people with
hereditary ATTR-CM manage their disease.
As part of the Voices for the Heart effort, myself and former NBA basketball player and coach Don
Chaney, a hereditary ATTR-CM patient himself, will be featured speaker at a virtual event hosted by
Hands of Excellence, Inc. on May 11, 2023, at 7:30 PM ET. Don will share his personal story of being
diagnosed and living with hereditary ATTR-CM. I will share more information about hereditary ATTR-CM symptoms and diagnosis, and there will be additional educational resources on hereditary ATTR-CM available to the community. For additional information on the event, please visit
Working together, we can overcome the challenge of low awareness and raise our collective voices to
help educate family members, friends, and neighbors at risk of developing hereditary ATTR-CM.
For resources on hereditary ATTR-CM, including a discussion guide to help conversations with your
doctor, you can visit www.yourheartsmessage.com/don.
*A 7-year study in London, UK found a gene mutation (ATTR V122I) was the cause of heart failure in 211 out of 1392 Afro-Caribbean patients.
Content developed by Pfizer in collaboration with Dr. Ola Akinboboye. Dr. Ola Akinboboye is a consultant on Pfizer’s Voices for the Heart program.
