by New research led by scientists at Brigham and Women’s Hospital and Duke University reveals that a genetic variant, carried by approximately 1.5 million Black Americans, increases the risk for heart failure and premature death. The V142I transthyretin variant, present in 3-4% of self-identified Black individuals in the U.S., causes the protein in the blood to misfold, leading to deposits of abnormal amyloid protein in the heart and other organs.
The study, published in JAMA, shows that individuals with this variant face an increased risk for heart failure starting in their 60s and an increased risk for death in their 70s. Carriers of the V142I variant, estimated to be around half a million over the age of 50, are expected to lose nearly a million years of life among currently living Black individuals in mid-to-late life.
Senior author Scott D. Solomon, MD, Edward D. Frohlich Distinguished Chair and Professor of Aesthetic Medicine at Brigham and Women’s Hospital and Harvard Medical School, stated, “Understanding the risk associated with this genetic variant will help inform clinicians and patients when these findings are identified, either through family screening, medical, or even commercial genetic testing. With several potential new therapies for cardiac amyloidosis, determining which patients might be best suited for these novel treatments is crucial.”
Cardiac amyloidosis, caused by these deposits, can lead to the heart muscle becoming thick and stiffened, ultimately resulting in heart failure. Recent advancements in therapy include treatments that prevent protein misfolding, reduce the amount of protein, remove the protein, and even a gene-editing therapy currently undergoing clinical trials. A clearer understanding of the epidemiology of V142I and cardiac amyloidosis will enable physicians to connect patients with the most effective treatment at the appropriate age.
Although the link between the V142I variant and heart failure has previously been established, the precise risk increase was unclear until now. With approximately 48 million Americans identifying as Black, 1.5 million across the lifespan are estimated to carry this variant. However, the effects of the variant typically don’t manifest until after age 50, making it essential to focus on the risk among Black Americans in mid-to-late life.
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1. Source: Coherent Market Insights, Public Source, Desk Research
2. We have leveraged AI tools to mine information and compile it.
