Can Early Genetic Testing Change ATTR-CM Outcomes?

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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