Overview
Infiltrative cardiomyopathy, particularly transthyretin amyloid cardiomyopathy (ATTR-CM), is a progressive disorder characterized by the deposition of amyloid fibrils in the heart muscle, leading to impaired cardiac function and significant morbidity and mortality 24.Diagnosis
Clinical Red Flags: Unexplained heart failure, atrial fibrillation, and atypical aortic stenosis 4.
Recommended Tests:
- Cardiac biomarkers and imaging (echocardiography, cardiac MRI) to assess cardiac structure and function.
- Genetic testing for familial forms, especially the p.V50M variant 3.
- N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels can be elevated 4.
Referral Algorithms: Multidisciplinary referral pathways recommended, especially in endemic areas for familial amyloid polyneuropathy 3.Management
First-Line Treatments:
- Tafamidis: Approved for ATTR-CM, though monitor for uncommon adverse events like acquired hemophilia and renal disorders 1.
- Dronedarone: Considered in specific cases for managing arrhythmias, though evidence is evolving 4.
Adjunctive Therapies:
- Standard heart failure medications may be limited in efficacy; tailored management focusing on symptom relief and supportive care is crucial 4.
- Regular monitoring for adverse events associated with specific treatments, such as those noted with tafamidis 1.Special Populations
Elderly: Given the progressive nature, early diagnosis and intervention are particularly critical in elderly patients 24.
Comorbidities: Management should consider overlapping symptoms with other cardiac conditions, necessitating careful differential diagnosis 4.Key Recommendations
Early Diagnosis and Referral: Enhance awareness and implement structured referral algorithms to improve early diagnosis of ATTR-CM 3 (Evidence: Expert opinion).
Targeted Therapies: Utilize tafamidis and other approved targeted treatments to significantly reduce mortality and cardiovascular hospitalizations in ATTR-CM 2 (Evidence: Strong).
Monitor Adverse Events: Closely monitor patients for uncommon adverse events associated with tafamidis, such as renal disorders and acquired hemophilia 1 (Evidence: Moderate).References
1 Chen M, Huang Y, Ke C, Chen M. Safety assessment of tafamidis: a real-world adverse event analysis from the FAERS database. Expert opinion on drug safety 2026. link
2 Antonopoulos AS, Tsampras T, Terentes-Printzios D, Lazaros G, Tsioufis K, Vlachopoulos C. Real-world effectiveness of targeted therapies in ATTR cardiomyopathy: A meta-analysis integrating population-based data. ESC heart failure 2025. link
3 Brito D, Agostinho J, Aguiar C, Aguiar Rosa S, Cardim N, Fonseca C et al.. Suspicion and referral of patients with transthyretin amyloid cardiomyopathy: Recommendations by a Portuguese multidisciplinary expert panel. Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2025. link
4 Izumiya Y, Kubo T, Endo J, Takashio S, Minamisawa M, Hamada J et al.. Transthyretin amyloid cardiomyopathy: Literature review and red-flag symptom clusters for each cardiology specialty. ESC heart failure 2025. link