carry the Val122Ile genetic variant linked to increased lifetime risk for ATTR-CM
remains the leading cause of death for Black Americans
is often missed or diagnosed later than it should be
ATTR-CM stands for transthyretin amyloid cardiomyopathy. It happens when a protein in the body becomes unstable, changes shape, and builds up in the heart. Over time, that buildup can make it harder for the heart to function the way it should.
For many people, especially those navigating a busy life, caregiving, work, or aging parents, the signs do not always stand out right away. What starts as fatigue, shortness of breath, or swelling can be mistaken for stress, aging, or another heart issue altogether.
That is part of the problem. Many people are living with symptoms and still do not have language for what they are experiencing. Heart to Heart is designed to help close that gap with information that is clear, grounded, and easier to act on.
It is also important to be clear about risk. Carrying the Val122Ile variant does not mean someone will definitely develop ATTR-CM. It means the risk may be higher, and that awareness, family conversations, and informed follow-up matter.
ATTR-CM begins when transthyretin, a protein made by the liver, becomes unstable and builds up in the heart.
The Val122Ile variant is found almost exclusively in people of African descent and may raise lifetime risk.
Many people spend years trying to understand their symptoms before getting a clear answer.
Too many people are at risk of learning about ATTR-CM late, after months or years of unanswered questions. This section should help visitors quickly understand why this conversation matters and why earlier awareness could make a meaningful difference.
3 to 4 percent of Black Americans carry the Val122Ile variant
An estimated 1.3 to 1.5 million people in the United States may be carriers
Less than 0.5 percent of white Americans carry the same variant
A small bump on his leg turned out to be a rare cancer. The path to treat it uncovered a heart valve problem and, eventually, ATTR-CM. This is Marcus's real story of self-advocacy.
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After decades as a cardiologist, Theo found himself living with the condition he had spent his career diagnosing in others. His real story shows what ATTR-CM looks and feels like from both sides of the stethoscope.
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Renee watched the same disease take her father. When her sister tested positive for the family gene, fear kept Renee from getting tested herself, until her own symptoms made waiting impossible.
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If you are not sure where to begin, start by staying connected. Signing up for updates is a simple way to keep learning, hear real stories, and get helpful information you can come back to when you are ready.
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Get guidance on how to talk with a parent, loved one, or doctor when symptoms, family history, or unanswered concerns are present.
Understand what genetic testing can help uncover, what it cannot confirm on its own, and why risk is not the same as diagnosis.
Learn what kind of heart specialist may be best equipped to evaluate possible ATTR-CM and help guide next steps.
Access medically grounded information that can support better screening, referral conversations, and informed decision-making.
If this story feels close to home, you do not have to remember everything today. Sign up to receive helpful updates about ATTR-CM, stories from patients and families, and information that can help you know what to look for and what questions to ask.
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