People diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM) at or before age 65 tend to live longer after diagnosis and show different early symptoms than those diagnosed later in life, according to data from a large European registry published recently in JACC: Advances.
These results suggest that current guidelines focusing on screening after age 65 may miss a meaningful number of patients who could benefit from earlier care.
Researchers analyzed data from the Healthcare European Amyloidosis Registry, known as HEAR, which tracks people with amyloidosis across multiple centers. Between July 2021 and May 2024, 3,980 patients with ATTR-CM were enrolled.
Of these, 1,417 had wild-type ATTR-CM with a known date of first heart-related symptoms and were included in the analysis. Only 67 patients, or 4.7%, were diagnosed at or before age 65, but another 111 patients developed symptoms before 65 and were diagnosed later, often after long delays.
“Despite their young age, these patients showed a similar cardiac phenotype compared to older patients, but with more severe osteo-tendinous disease,” explained this study’s authors.
Younger patients diagnosed early had a median diagnostic delay of just 0.7 years, compared with 20.6 years in those whose symptoms began early but whose diagnosis came after 65. At first presentation, signs of heart failure such as shortness of breath or swelling were seen in 34.9% of younger patients and 30.2% of older patients, but only 8.1% of those with delayed diagnosis. This suggests that early symptoms can be subtle and easy to overlook.
Read more about signs and symptoms of ATTR-CM
Importantly for patients, younger individuals often had warning signs outside the heart. Carpal tunnel syndrome occurred in 41.0% of younger patients compared with about 20% of older groups. Nerve problems, spinal stenosis and connective tissue issues like Dupuytren’s contracture were also more common. In contrast, heart rhythm problems were more frequent in older patients whose symptoms began earlier but were diagnosed late.
Survival after diagnosis differed as well. After a median follow-up of 36.2 months, younger patients had the best outcomes. Their median survival was not reached, meaning more than half were still alive beyond the study period. Older groups had median survival of 75 to 79 months.
For patients, these results highlight why paying attention to early, nonheart symptoms matters. Earlier diagnosis can open the door to treatment sooner, allow for closer follow-up and in some cases advanced options such as heart transplantation. The study suggests that doctors and patients alike may need to think beyond age limits when considering the possibility of ATTR-CM.
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