Drs Kevin Alexander and Joban Vaishnav explore when and how to use genetic testing in ATTR-CM, why distinguishing hereditary from wild-type disease matters, and what this means for patients' families.

Relevant disclosures can be found with the episode show notes on Medscape https://www.medscape.com/ca8/p04/podcast-attr-cm-s1-ep2-2026a10006ha. The topics and discussions are planned, produced, and reviewed independently of advertisers. This podcast is intended only for US healthcare professionals.

Resources

Transthyretin-Related Amyloidosis https://emedicine.medscape.com/article/335301-overview

Tafamidis Treatment for Patients With Transthyretin Amyloid Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/30145929/

Molecular Mechanisms and Emerging Therapies in Wild-Type Transthyretin Amyloid Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/38233673/

Hereditary Transthyretin Amyloidosis (ATTRv) https://pubmed.ncbi.nlm.nih.gov/39954876/

99mTc Bone-Avid Tracer Cardiac Scintigraphy: Role in Noninvasive Diagnosis of Transthyretin Cardiac Amyloidosis https://pubmed.ncbi.nlm.nih.gov/36537896/

Utility of Genetic Testing in Patients With Transthyretin Amyloid Cardiomyopathy: A Brief Review https://pubmed.ncbi.nlm.nih.gov/38275387/

Clinical Comparison of V122I Genotypic Variant of Transthyretin Amyloid Cardiomyopathy With Wild-Type and Other Hereditary Variants: A Systematic Review https://pubmed.ncbi.nlm.nih.gov/33768376/

V122I TTR Cardiac Amyloidosis in Patients of African Descent: Recognizing a Missed Disease or the Dog That Didn't Bark?https://pubmed.ncbi.nlm.nih.gov/27618856/

Genetic and Clinical Features of Hereditary Transthyretin Amyloidosis: A Decade of Experience at a Japanese Referral Center https://pubmed.ncbi.nlm.nih.gov/40898332/

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis https://pubmed.ncbi.nlm.nih.gov/41095902/

Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant https://clinicaltrials.gov/study/NCT06563895

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Is rhythm control underused in ATTR-CM? Drs Kevin Alexander and Ronald Witteles make the case for rethinking how we manage arrhythmias in this disease.

Relevant disclosures can be found with the episode show notes on Medscape https://www.medscape.com/ca8/p04/podcast-attr-cm-s1-ep1-2026a10006h9. The topics and discussions are planned, produced, and reviewed independently of advertisers. This podcast is intended only for US healthcare professionals.

Resources

Transthyretin-Related Amyloidosis https://emedicine.medscape.com/article/335301-overview

Primary Systemic Amyloidosis https://emedicine.medscape.com/article/1093258-overview

Arrhythmias in Patients With Cardiac Amyloidosis: A Comprehensive Review on Clinical Management and Devices https://pubmed.ncbi.nlm.nih.gov/37623350/

Atrial Fibrillation in the Setting of Cardiac Amyloidosis - A Review of the Literature https://pubmed.ncbi.nlm.nih.gov/38565394/

Atrial Fibrillation/Flutter in Transthyretin Cardiac Amyloidosis: Prevalence, Incidence, Clinical Predictors, and Effect of Tafamidis https://pubmed.ncbi.nlm.nih.gov/41448121/

Disease-Modifying Therapies in Transthyretin Amyloid Cardiomyopathy: What Have We Achieved https://pubmed.ncbi.nlm.nih.gov/41698526/

SGLT2 Inhibitor Therapy in Patients With Transthyretin Amyloid Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/38866445/

Direct Oral Anticoagulants in Patients With Cardiac Amyloidosis: A Systematic Review and Meta-analysis https://pubmed.ncbi.nlm.nih.gov/38303916/

Pulsed Field Ablation of Atrial Fibrillation: A Comprehensive Review https://pubmed.ncbi.nlm.nih.gov/39076426/

Transthyretin Cardiac Amyloidosis Evaluation and Management: 2025 ACC Concise Clinical Guidance https://pubmed.ncbi.nlm.nih.gov/41171219/

99m Technetium-Pyrophosphate Scintigraphy: A Practical Guide for Early Diagnosis of Transthyretin Amyloid Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/34841715/

Biomarkers in Heart Failure: A Review and a Wish https://pubmed.ncbi.nlm.nih.gov/40869365/

Tafamidis Treatment for Patients With Transthyretin Amyloid Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/30145929/

Safety of Direct Current Cardioversion Without Routine Transesophageal Echocardiography in Patients With Cardiac Amyloidosis https://pubmed.ncbi.nlm.nih.gov/39111975/

Efficacy and Safety of Acoramidis in Transthyretin Amyloid Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/38197816/

Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy https://pubmed.ncbi.nlm.nih.gov/39213194/

CARDIO-TTRansform: A Study to Evaluate the Efficacy and Safety of Eplontersen (Formerly Known as ION-682884, IONIS-TTR-LRx and AKCEA-TTR-LRx) in Participants With Transthyretin-Mediated Amyloid Cardiomyopathy (ATTR CM) https://clinicaltrials.gov/study/NCT04136171

Prevalence and Functional Impact of Chronotropic Incompetence in Amyloid Cardiomyopathy: A Multicentre Analysis https://pubmed.ncbi.nlm.nih.gov/39794925/

Cardiac Resynchronization Therapy: Current Guidelines and Recent Advances Beyond Drug Treatment https://pubmed.ncbi.nlm.nih.gov/37246328/

Percutaneous Left Atrial Appendage Closure With the Watchman Device: A Systematic Review https://pubmed.ncbi.nlm.nih.gov/38616940/

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