A new Dutch study published recently in Netherlands Heart Journal showed that standard heart scans may fail to catch early cases of transthyretin amyloid cardiomyopathy (ATTR-CM).
Researchers found that some patients with ATTR-CM had no thickening of the heart muscle wall — a key feature commonly used to detect the disease — raising concerns that current screening approaches may overlook people in earlier stages of illness.
“We identified 2 ATTR-CM patients (33%) without increased LVWT [left ventricular wall thickness], who presented at an earlier disease stage,” stated the authors of this study. “Hence, relying solely on LVWT for ATTR-CM diagnosis may lead to delayed and/or missed diagnoses.”
The study included 202 patients with heart failure with preserved ejection fraction (a syndrome that can be caused by ATTR-CM) seen at a single center between 2018 and 2023. All were screened for ATTR-CM using bone scintigraphy, a nuclear imaging test that can detect amyloid deposits in the heart. Only six patients (3%) were ultimately diagnosed with wild-type ATTR-CM, even though nine showed signs of potential disease. None had a genetic mutation in the transthyretin gene, and one had a coexisting blood condition classified as monoclonal gammopathy of unknown significance.
Read more about ATTR-CM prognosis and staging
Of those diagnosed, most were men — five out of six — reflecting a known pattern of ATTR-CM affecting more males. These patients also tended to have thicker heart walls, a classic sign of the condition. However, two had normal wall thickness at the time of diagnosis. These individuals were in earlier prognostic stages and had fewer symptoms, suggesting that detection of disease based only on measurements of the heart wall may miss important early cases.
“If we had followed the current guidelines, these patients would have been overlooked or diagnosed at a later disease stage,” the study’s authors said.
Many patients in the group of overall heart failure with preserved ejection fraction showed signs and symptoms linked to ATTR-CM, such as carpal tunnel syndrome or irregular heartbeat. In fact, even after excluding atrial fibrillation, a common condition in heart failure, 71% of the group had at least one indicator of possible ATTR-CM. Patients diagnosed with ATTR-CM had significantly more of these indicators on average, and carpal tunnel syndrome appeared far more frequently in this group (67% vs 10%).
This study highlighted that relying solely on measurements of thickness of the heart wall and late-stage symptoms may delay diagnosis and treatment of ATTR-CM. Broader screening, especially in patients with subtle symptoms or other indicators, may help catch the disease earlier — when treatment can be more effective and outcomes more favorable.
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