Efamily News: Cardiac amyloidosis, particularly transthyretin amyloid cardiomyopathy (ATTR-CM), disproportionately affects Black men in the United States due to a prevalent genetic mutation.

Saturday, July 12, 2025

Cardiac amyloidosis, particularly transthyretin amyloid cardiomyopathy (ATTR-CM), disproportionately affects Black men in the United States due to a prevalent genetic mutation.

Cardiac Amyloidosis in Black Men

🎯 Overview

Cardiac amyloidosis, particularly transthyretin amyloid cardiomyopathy (ATTR‑CM), disproportionately affects Black men in the U.S., driven by a common genetic mutation.

Genetic Risk: The V122I Mutation

Approximately 3–3.9% of African Americans carry the V122I (Val122Ile) mutation in the TTR gene, which destabilizes transthyretin and causes hereditary ATTR‑CM :contentReference[oaicite:1]{index=1}.
Not all carriers will develop the disease, but those who do typically present symptoms after age 60 :contentReference[oaicite:2]{index=2}.

Clinical Impact & Underdiagnosis

ATTR‑CM progresses to heart failure, arrhythmias, and cardiac complications. Early symptoms often mimic other cardiac conditions, resulting in frequent delays or misdiagnoses. Black patients are diagnosed at roughly twice the rate of White patients, yet are still underrepresented in clinical trials :contentReference[oaicite:3]{index=3}.

🥼 Treatment Advances

Several disease-modifying therapies have demonstrated benefits in reducing mortality and hospitalization:

Tafamidis: In the ATTR‑ACT trial, it reduced all‑cause mortality from 42.9% to 29.5% (HR 0.70) versus placebo :contentReference[oaicite:4]{index=4}.
Acoramidis (Attruby): FDA-approved November 2024. In Phase III ATTRibute‑CM, it showed significant reductions in all-cause mortality and cardiovascular-related hospitalizations versus placebo :contentReference[oaicite:5]{index=5}.
Vutrisiran: In the HELIOS‑B trial, it cut risk of death or cardiovascular events by ~28–33% and improved six-minute walk distance in ATTR‑CM patients :contentReference[oaicite:6]{index=6}.

💡 Why Awareness & Screening Matter

Due to high V122I prevalence, increased awareness and early screening (e.g., genetic testing) are essential in Black communities.
Cardiologists should include ATTR‑CM in the differential for Black older adults with unexplained heart failure.

Summary

Black men in the U.S. carry a disproportionate burden of hereditary ATTR‑CM due to the V122I genetic mutation. Recent therapeutic advances — tafamidis, acoramidis, vutrisiran — can significantly slow progression and reduce mortality. Early recognition, genetic testing, and specialist referral are key to improving outcomes.

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