Medical education and disease awareness in transthyretin amyloid cardiomyopathy.

Abstract

Introduction and objectives: Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure, with diagnostic challenges often attributed to suboptimal physician awareness. This study aimed to evaluate awareness, knowledge, and clinical practices related to ATTR-CM across various medical specialties in Portugal.

Methods: A cross-sectional online survey was conducted from November 2023 to February 2024 among Portuguese physicians in cardiology, internal medicine, and general practice. A 15-item questionnaire evaluated demographics, familiarity with ATTR-CM, disease exposure, recognition of diagnostic red flags, knowledge of diagnostic algorithms, referral patterns, and management challenges.

Results: Of 1,268 physicians surveyed, 56.8% reported unfamiliarity with ATTR-CM, and 76.0% were unaware of the European Society of Cardiology (ESC) diagnostic guidelines. Awareness of diagnostic algorithms was significantly higher among cardiologists (97.8%) and internists (39.1%) compared to general practitioners (13.1%). Clinical suspicion of ATTR-CM was primarily triggered by imaging modalities, especially transthoracic echocardiography, supported by cardiac clinical signs and symptoms and patient history. Regarding diagnosis just 8% of respondents highlighted bone scintigraphy as essential. Referral patterns varied by specialty: cardiologists emphasized patient management and follow-up in a cardiomyopathy consultation, internal medicine bridged suspicion and specialist referral, and general practitioners frequently initiated referrals based on early suspicion and diagnostic confirmation. The principal challenges identified were initial clinical suspicion, selection of appropriate imaging exams, and knowledge of the referral pathways, with specialty-specific barriers influencing management strategies.

Conclusions: Portuguese physicians exhibit specialty-specific differences in awareness and practices regarding ATTR-CM. Non-cardiologists focus on red flag recognition and structured referral, while cardiologists lead diagnosis and management. Role-adapted educational programs are warranted to optimize early recognition, appropriate referral, and effective multidisciplinary care.