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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Awareness, attitudes, and barriers toward Transthyretin Amyloid Cardiomyopathy in Latin America: A
Cecilia Camacho-Hubner1, Marcia Waddington-Cruz2, María Juliana Rodríguez-González3
1Former Pfizer Global and Regional Medical Lead, Rare Disease, New York City, New York, United States of America.
Insights
Physician awareness of Transthyretin Amyloid Cardiomyopathy (ATTR-CM) in Latin America is limited, leading to delayed diagnosis. Barriers include diagnostic gaps and access issues, necessitating improved training and collaboration for better patient outcomes.
Area of Science:
- Cardiology
- Rare Diseases
- Medical Education
Background:
- Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a progressive, underdiagnosed cardiac condition.
- Significant data gaps exist regarding ATTR-CM awareness and treatment barriers in Latin America (LATAM).
Purpose of the Study:
- To assess physician awareness, attitudes, and barriers related to ATTR-CM diagnosis and management in LATAM.
- To identify factors contributing to delayed diagnosis and treatment in the region.
Main Methods:
- Cross-sectional, questionnaire-based observational study.
- Surveyed 470 physicians across 8 LATAM countries (June-August 2023).
- Descriptive analysis of awareness, attitudes, and barriers.
Main Results:
- Physician knowledge of ATTR-CM pathophysiology was 50.2%.
- Patients averaged 4-5 physician consultations before diagnosis; cardiologists managed most cases.
- Limited availability of genetic testing (26.4%) and patient cost/access to tafamidis were key barriers.
Conclusions:
- Knowledge gaps, diagnostic algorithm deficiencies, and access barriers impede ATTR-CM diagnosis and management in LATAM.
- Tailored education and collaborative efforts are crucial for early diagnosis and improved patient outcomes.
Background:
Cardiac Amyloidosis (CA), specifically Transthyretin Amyloid Cardiomyopathy (ATTR-CM), is an under-recognized, progressive, and fatal disease. Comprehensive primary data describing awareness, attitudes, and barriers to treatment in Latin America (LATAM) are lacking, highlighting a gap between guidelines and real-world clinical practice.
Methods:
A cross-sectional, questionnaire-based observational study was conducted among 470 physicians actively involved in patient management across 8 LATAM countries (June-August 2023). The study assessed their awareness, attitudes, and barriers concerning ATTR-CM. Descriptive analysis was performed.
Results:
Limited knowledge of ATTR-CM was observed. Awareness of its pathophysiology was reported by 50.2%. Patients consulted 4-5 physicians before receiving a confirmed diagnosis. Cardiologists managed most day-to-day cases (76.2%). Transthyretin genetic testing was available to only 26.4%. Local treatment protocols relied on international guidelines (87.4%), with Real-World Data considered important by 60.6%. Patient cost and access to tafamidis were frequently reported barriers. Follow-up commonly relied on echocardiography, NT-pro BNP, NYHA classification, and ECG/Holter ECG.
Conclusions:
Difficulties in ATTR-CM diagnosis and management in LATAM were influenced by varying knowledge levels, gaps in diagnostic algorithms, and significant access barriers. These factors contribute to delayed diagnosis and management. Enhanced, tailored training strategies and collaborative efforts are necessary to improve early diagnosis, effective treatment, and ultimately, patient outcomes in the region.
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