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Navigating Therapeutic Pathways and Transforming Care in ATTR-CM - Episode 1

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

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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.

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