Cesia Gallegos-Kattan, MD, MHS

The panel focuses on recognizing extra-cardiac manifestations that often precede cardiac symptoms in ATTR-CM. Orthopedic signs—such as bilateral carpal tunnel syndrome, cervical or lumbar spinal stenosis, biceps tendon rupture, trigger finger, and recurrent joint replacements—may occur five to ten years before cardiac involvement. Neurologic and autonomic features, including peripheral neuropathy, orthostatic hypotension, constipation, diarrhea, urinary retention, and erectile dysfunction, also serve as early clues, though frequently attributed to aging or unrelated conditions. The discussion emphasizes the importance of educating clinicians across specialties to identify these signals and consider amyloidosis when patterns cluster. The panel notes that orthopedic surgeons, neurologists, primary care physicians, and geriatricians play key roles in spotting early presentations. Advanced practice providers can also help bridge communication and referral pathways. Rather than screening every patient with common conditions, the group recommends viewing these findings as risk indicators and prompting coordinated evaluation to facilitate earlier diagnosis and treatment.

Extra-Cardiac Clues and Care Team Integration for Earlier ATTR-CM Detection

The panel focuses on recognizing extra-cardiac manifestations that often precede cardiac symptoms in ATTR-CM. Orthopedic signs—such as bilateral carpal tunnel syndrome, cervical or lumbar spinal stenosis, biceps tendon rupture, trigger finger, and recurrent joint replacements—may occur five to ten years before cardiac involvement. Neurologic and autonomic features, including peripheral neuropathy, orthostatic hypotension, constipation, diarrhea, urinary retention, and erectile dysfunction, also serve as early clues, though frequently attributed to aging or unrelated conditions. The discussion emphasizes the importance of educating clinicians across specialties to identify these signals and consider amyloidosis when patterns cluster.

The panel notes that orthopedic surgeons, neurologists, primary care physicians, and geriatricians play key roles in spotting early presentations. Advanced practice providers can also help bridge communication and referral pathways. Rather than screening every patient with common conditions, the group recommends viewing these findings as risk indicators and prompting coordinated evaluation to facilitate earlier diagnosis and treatment.

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The panel focuses on recognizing extra-cardiac manifestations that often precede cardiac symptoms in ATTR-CM. Orthopedic signs—such as bilateral carpal tunnel syndrome, cervical or lumbar spinal stenosis, biceps tendon rupture, trigger finger, and recurrent joint replacements—may occur five to ten years before cardiac involvement. Neurologic and autonomic features, including peripheral neuropathy, orthostatic hypotension, constipation, diarrhea, urinary retention, and erectile dysfunction, also serve as early clues, though frequently attributed to aging or unrelated conditions. The discussion emphasizes the importance of educating clinicians across specialties to identify these signals and consider amyloidosis when patterns cluster.
The panel notes that orthopedic surgeons, neurologists, primary care physicians, and geriatricians play key roles in spotting early presentations. Advanced practice providers can also help bridge communication and referral pathways. Rather than screening every patient with common conditions, the group recommends viewing these findings as risk indicators and prompting coordinated evaluation to facilitate earlier diagnosis and treatment.


The panel opens by outlining the significant clinical burden of ATTR-CM. Patients often initially present with atrial arrhythmias or conduction abnormalities before developing heart failure, which commonly manifests first as exercise intolerance. Without treatment, the disease follows a progressive course that impacts both patients and caregivers, many of whom are unfamiliar with amyloidosis at diagnosis. The discussion highlights notable delays in identifying hereditary ATTR-CM, particularly among Black and Caribbean patients with the V142I variant, emphasizing the need for improved community and provider awareness. The conversation then shifts to trends in diagnosis. While recognition of ATTR-CM has increased and patients are being diagnosed earlier—with outcomes improving when therapy is initiated sooner—significant barriers remain. A major challenge is persistent misperception of ATTR-CM as rare. The panel stresses reframing heart failure with preserved ejection fraction as a syndrome requiring etiologic evaluation and encourages clinicians to consider ATTR-CM in older patients with increased ventricular wall thickness, prompting timely, appropriate diagnostic workup.

Clinical Burden and Barriers to Early Diagnosis in Transthyretin Amyloid Cardiomyopathy (ATTR-CM)

The panel opens by outlining the significant clinical burden of ATTR-CM. Patients often initially present with atrial arrhythmias or conduction abnormalities before developing heart failure, which commonly manifests first as exercise intolerance. Without treatment, the disease follows a progressive course that impacts both patients and caregivers, many of whom are unfamiliar with amyloidosis at diagnosis. The discussion highlights notable delays in identifying hereditary ATTR-CM, particularly among Black and Caribbean patients with the V142I variant, emphasizing the need for improved community and provider awareness.

The conversation then shifts to trends in diagnosis. While recognition of ATTR-CM has increased and patients are being diagnosed earlier—with outcomes improving when therapy is initiated sooner—significant barriers remain. A major challenge is persistent misperception of ATTR-CM as rare. The panel stresses reframing heart failure with preserved ejection fraction as a syndrome requiring etiologic evaluation and encourages clinicians to consider ATTR-CM in older patients with increased ventricular wall thickness, prompting timely, appropriate diagnostic workup.

The panel opens by outlining the significant clinical burden of ATTR-CM. Patients often initially present with atrial arrhythmias or conduction abnormalities before developing heart failure, which commonly manifests first as exercise intolerance. Without treatment, the disease follows a progressive course that impacts both patients and caregivers, many of whom are unfamiliar with amyloidosis at diagnosis. The discussion highlights notable delays in identifying hereditary ATTR-CM, particularly among Black and Caribbean patients with the V142I variant, emphasizing the need for improved community and provider awareness.
The conversation then shifts to trends in diagnosis. While recognition of ATTR-CM has increased and patients are being diagnosed earlier—with outcomes improving when therapy is initiated sooner—significant barriers remain. A major challenge is persistent misperception of ATTR-CM as rare. The panel stresses reframing heart failure with preserved ejection fraction as a syndrome requiring etiologic evaluation and encourages clinicians to consider ATTR-CM in older patients with increased ventricular wall thickness, prompting timely, appropriate diagnostic workup.


Cesia Gallegos-Kattan, MD, MHS

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