DALLAS, March 23, 2026 — Transthyretin amyloid cardiomyopathy, or ATTR‑CM, is a serious and often underdiagnosed condition caused by abnormal protein buildup that prevents the left ventricle from relaxing and filling properly, impairing the heart’s…
Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a life-threatening heart disease that often goes undiagnosed or is misdiagnosed because its symptoms can resemble other common heart conditions like hypertensive heart disease and aortic stenosis. The disease is caused by the accumulation of amyloid protein deposits in the heart muscle, which stiffens the heart and prevents it from pumping blood effectively.
There are two main types of ATTR-CM: wild-type, which typically affects older men over 60 and is not hereditary, and hereditary, caused by a genetic mutation. The hereditary form can affect younger individuals and is more common in people of African or Afro-Caribbean descent.
Symptoms of ATTR-CM include shortness of breath, fatigue, swelling in the legs and ankles, palpitations, and irregular heart rhythms such as atrial fibrillation, all common signs of heart failure. Crucially, non-cardiac symptoms can appear years before heart-related issues, including carpal tunnel syndrome, spinal stenosis, bicep tendon rupture, and peripheral neuropathy.
Early and accurate diagnosis is vital because medications are available that can slow the disease progression. Without treatment, the average survival time is 2 to 5 years after symptom onset. Diagnostic methods include imaging tests like echocardiogram, cardiac MRI, and nuclear scintigraphy (PYP scan). Genetic testing is used to confirm the hereditary form of the disease.
Medical professionals are being encouraged to consider ATTR-CM in older adults presenting with heart failure with preserved ejection fraction, especially if they also have “red flag” symptoms like carpal tunnel syndrome. Increased awareness is also important for individuals with unexplained heart failure, particularly those of African or Afro-Caribbean descent, and in patients with aortic stenosis, who have a higher prevalence of the condition. Improving diagnostic recognition among doctors is a key focus to reduce delays in care.
https://newsroom.heart.org/news/nationwide-effort-targets-diagnosis-delays-care-gaps-for-a-life-threatening-heart-disease
