For many people living with transthyretin amyloid cardiomyopathy (ATTR‑CM) – a rare and underdiagnosed cause of heart failure – receiving an accurate diagnosis can be a long and uncertain journey.1,2 Symptoms often resemble more common heart conditions, and early clues are easy to miss.1 But, new real-world evidence being shared at the American College of Cardiology (ACC) Scientific Sessions highlights opportunities to raise suspicion earlier in the diagnostic journey.

“Many patients are already seeing cardiologists, but ATTR-CM isn’t always considered,” says Lori Baylor, PhD, Pfizer US Rare Cardiac Medical Lead. “Earlier recognition matters – ATTR-CM is progressive and delays can mean that patients are diagnosed later in the disease course.”

Growing awareness, non‑invasive diagnostic tools, and ongoing advances in understanding ATTR‑CM are beginning to reshape how and when clinicians recognize the disease.

Why Many Patients Still Face Delays

Even with increased awareness, ATTR‑CM remains underdiagnosed.1 A Pfizer‑supported U.S. survey being presented at ACC revealed that nearly half of patients with ATTR-CM were initially diagnosed with another heart condition before ATTR-CM was identified.2

These early misdiagnoses can send patients through multiple appointments, long wait times, and potentially inappropriate tests before the true underlying cause is found.2,3 These delays matter. Earlier detection may help shorten the path to a clear diagnosis and reduce uncertainty for patients and families.

New Research Sheds Light on the Diagnostic Journey

Understanding What Patients Experience

The survey being shared at ACC evaluated the diagnostic experiences of 256 people living with ATTR‑CM. It found:2

  • A median of 93 days from first clinical presentation to confirmed diagnosis, with wide variation
  • Over 75% of patients reporting challenges in obtaining a diagnosis
  • Highly variable diagnostic testing approaches between different cardiology practices

These results highlight opportunities to support more consistent pathways, accelerate recognition, and reduce the emotional burden on patients navigating uncertainty.

Identifying Early Clues in Wild‑Type ATTR‑CM

In a second study, Pfizer and academic collaborators examined data from nearly 5,000 people with wild‑type ATTR‑CM. The analysis found:4

  • Some well recognized clinical “red flag” symptoms of the musculoskeletal system including carpal tunnel syndrome, trigger finger, and lumbar spinal stenosis often appear three to five years before diagnosis
  • Other symptoms were more common closer to diagnosis, including certain forms of heart failure and related conditions
  • Recognizing these patterns can help clinicians consider ATTR‑CM sooner and initiate the right diagnostic tests earlier in the patient journey

Together, these studies add new clarity to where missed opportunities occur across the diagnostic timeline and where early clinical clues may help shorten the path to recognition.

Why Early Detection Matters More Than Ever

ATTR‑CM is a progressive condition that worsens over time, and many people are still diagnosed only once symptoms have become advanced. As wild‑type ATTR‑CM is increasingly recognized in older adults, spotting the condition earlier is important.3

Greater awareness and clearer testing pathways are making it easier for clinicians to consider ATTR‑CM sooner.5 “Non‑invasive diagnosis and the availability of treatment have been major drivers of change,” notes Lori Baylor.

Catching it sooner can ease uncertainty for patients, help them reach specialist care more quickly, and support better long‑term management. It also gives families a clearer sense of what to expect and reduces the risk of misdiagnoses that delay the appropriate care.3,4

Pfizer’s Commitment to Advancing ATTR‑CM Science

For more than a decade, Pfizer has collaborated with researchers, clinicians, and patient communities to strengthen scientific understanding of ATTR‑CM. The new evidence presented at ACC this year adds to that long‑standing effort by offering:

  • Real‑world insights into patients’ diagnostic experiences
  • Population‑level data revealing early diagnostic clues
  • Opportunities to refine clinical suspicion and testing pathways
  • A stronger foundation for earlier, more confident recognition of ATTR‑CM.

“We are committed to deepening the science and helping clinicians recognize ATTR‑CM sooner,” says Lori Baylor. “Earlier detection is one of the most powerful levers we have to improve care.”

Looking Ahead

Pfizer will continue partnering across academia, scientific communities, and health systems to improve the understanding and diagnosis of ATTR‑CM, including through real‑world evidence, education, emerging technologies, and ongoing research.

As new trends in diagnosis and patient care continue to emerge, one message remains clear: earlier recognition is central to improving the experience and long‑term outcomes of people living with ATTR‑CM.