When women think about heart disease, they may picture clogged arteries, high blood pressure, or heart attacks. However, there is another condition that often flies under the radar, even among medical professionals, that disproportionately affects older adults and is frequently missed in women: transthyretin amyloid cardiomyopathy (ATTR-CM).
ATTR-CM is a serious and often underdiagnosed form of heart failure caused by a buildup of abnormal proteins in the heart. Early detection is essential, yet women are often overlooked or misdiagnosed. As part of our June education efforts and in anticipation of our upcoming HeartTalk webinar, we are spotlighting this condition to empower women with knowledge and tools to advocate for their health.
What is ATTR-CM?
ATTR-CM stands for transthyretin amyloid cardiomyopathy. It occurs when a protein called transthyretin (TTR) becomes unstable, misfolds, and builds up in the heart as amyloid deposits. Over time, these deposits cause the heart muscle to become stiff and thick, reducing its ability to pump blood efficiently, a condition known as restrictive cardiomyopathy.
There are two main types of ATTR-CM:
- Wild-type ATTR-CM – develops with age, typically in men over 60, but also affects women.
- Hereditary ATTR-CM – caused by a genetic mutation and can be passed down in families, affecting both men and women.
While the wild-type form is more common in older adults, hereditary ATTR-CM disproportionately impacts Black and Afro-Caribbean populations, especially those with the V122I genetic variant, which is found in approximately 3–4% of African Americans.
Why ATTR-CM is Often Missed in Women
ATTR-CM is underdiagnosed in general, but even more so in women. There are several reasons for this:
- Misattribution of Symptoms: Fatigue, shortness of breath, and swelling in the legs are common signs of heart failure and ATTR-CM. But in women, these symptoms are often dismissed or attributed to aging, stress, or menopause.
- Bias in Diagnosis: Many healthcare providers still view ATTR-CM as a “man’s disease,” particularly the wild-type form. This can delay testing and treatment for women.
- Limited Awareness: Both patients and physicians may not be familiar with ATTR-CM. This lack of awareness contributes to delays in diagnosis, sometimes for years.
- Imaging Challenges: Women may have smaller hearts or present with less “typical” imaging findings, making ATTR-CM more difficult to detect using standard tests.
Signs and Symptoms to Know
ATTR-CM can present with symptoms similar to other forms of heart failure, but some signs should raise suspicion, especially when they appear together or in someone with a family history of heart disease:
- Shortness of breath with activity
- Fatigue and weakness
- Swelling in the legs or abdomen
- Irregular heartbeat or atrial fibrillation
- Numbness or tingling in the hands and feet (neuropathy)
- Carpal tunnel syndrome in both wrists
- Unexplained weight loss
- Intolerance to heat or digestive issues
If you have a family history of heart disease or have experienced several of these symptoms, especially if you are over 60 or of African descent, talk to your doctor about the possibility of ATTR-CM and ask whether testing is appropriate.
How is ATTR-CM Diagnosed
Diagnosis usually begins with clinical suspicion, and that means knowing what to look for. A doctor may use:
- Echocardiogram or Cardiac MRI to assess heart structure and function
- Nuclear imaging (technetium pyrophosphate scan) to detect amyloid in the heart
- Blood and urine tests to rule out other types of amyloidosis
- Genetic testing to identify hereditary ATTR-CM
- Biopsy, in some cases, to confirm amyloid deposits
Awareness is the first step. If you have heart failure symptoms that are not responding to treatment, or you have other red-flag signs of ATTR-CM, do not hesitate to advocate for yourself and request further testing.
Why Early Diagnosis Matters
ATTR-CM is progressive, meaning it gets worse over time if left untreated. But with recent advances, there are now FDA-approved treatments that can stabilize the disease, slow progression, and improve quality of life, particularly when caught early.
In addition to medication, patients may benefit from supportive therapies, lifestyle changes, and referrals to specialized heart failure or amyloidosis clinics.
And because hereditary ATTR-CM can run in families, genetic counseling can help family members understand their risks and consider testing.
WomenHeart’s Role in Raising Awareness
At WomenHeart, we are committed to ensuring that women with all forms of heart disease, including rare and often-missed conditions like ATTR-CM, get the care and information they deserve.
That is why we are hosting a HeartTalk webinar focused on ATTR-CM and women. The session will feature experts in cardiology and patient voices who have experienced the diagnostic journey firsthand.
Join us on June 25 at 1:30 PM ET and help us spread the word by inviting others who might benefit from this important discussion.
What You Can Do Today
- Learn more about ATTR-CM and share this blog with others.
- Talk to your doctor if you or a loved one has unexplained heart failure symptoms.
- Join us for our HeartTalk series to hear from experts and patients.
- Support WomenHeart in our mission to improve care and raise awareness for all women with heart disease.
Together, we can close the awareness gap and ensure that women with ATTR-CM get the timely diagnosis and care they need.
