World Heart Podcast

Play episode

Mike Lane

Patient Advocate, Amyloidosis Army

David Gregory

Patient Advocate, Amyloidosis Alliance

Host: Shreya Shrikhande

World Heart Federation

In this episode, two patient advocates share the lived reality of transthyretin amyloid cardiomyopathy (ATTR-CM): years of subtle symptoms and misdiagnoses, the moment of finally being heard, and the power of information, community, and timely access to treatment. You’ll hear how neurological signs (e.g., numbness, carpal tunnel, tendon rupture) can precede cardiac symptoms, why early diagnosis changes trajectories, and how advocacy is closing gaps—especially for underserved communities.

Download Episode

Follow our podcast

Apple Podcasts


Spotify


Deezer


Amazon Music


Podcast Index


Pocket Casts

Key Takeaways

What ATTR-CM is—plainly

• In ATTR-CM, a normally circulating protein (TTR) becomes unstable, misfolds, and deposits as amyloid in the heart, stiffening the muscle and impairing pump function; if untreated, this can lead to heart failure.

• Symptoms vary and often start outside the heart (numbness, carpal tunnel, tendon/biceps rupture) long before breathlessness, edema, or atrial fibrillation appear—one reason diagnosis is frequently delayed.

Diagnosis—why it takes so long

• Many patients see multiple specialists in “silos” over years before someone connects the red flags; both guests describe ~10-year journeys to a final diagnosis.

• Key clues: bilateral biceps tendon rupture, carpal tunnel, progressive neuropathy plus unexplained LV thickening/diastolic dysfunction or arrhythmia—consider amyloidosis early and refer to a center of excellence.

Treatment—why early matters

• Tafamidis (stabilizer) and gene “silencer” therapies exist in several regions; earlier initiation preserves function, but established damage often persists—another reason to shorten time to diagnosis.

• Research is moving fast (e.g., amyloid-removing approaches, gene editing), giving patients and families real reasons for hope.

Equity & awareness

• Disparities persist. The guests highlight underserved communities—where awareness is low and red-flag symptoms go unrecognized—calling for outreach that meets people where they are.

• Patient groups are filling gaps with peer support, practical education, and navigation—often the difference between years of uncertainty and timely care.

For clinicians—quick appraisal checklist

• Think beyond coronaries: normal angiography doesn’t rule out infiltrative cardiomyopathy; correlate neuropathy/tendon history with echo/MRI/red-flag labs and consider scintigraphy or TTR genotyping.

• If suspicion is high, refer early to amyloidosis-experienced centers; align work-up and treatment with evolving evidence and patient goals.

Resources & Further Reading

• WHF ATTR-CM Patient & Caregiver Toolkit – track symptoms, understand care pathways, and learn the glossary of tests and therapies.

• Amyloidosis Alliance & Amyloidosis Army – peer support, local events, and practical guides to navigate diagnosis and care.

Stay Informed and Take Action

• Subscribe on your favorite platform above.

• Share this episode with patients, families, and clinicians—awareness shortens the road to diagnosis.