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V122I transthyretin amyloidosis genetic variant and cardiac structure and function in middle-aged Black adults

JAMA Cardiology Jun 17, 2021

Sinha A, Zheng Y, Nannini D, et al. - Researchers undertook this population-based cohort study to assess the link between the V122I TTR (transthyretin) variant and cardiac structure as well as function during middle age in individuals without prevalent heart failure (HF). They analyzed 875 Black participants in the Coronary Artery Risk Development in Young Adults (CARDIA) cohort. Presence of subclinical cardiac abnormalities in middle age [worse left ventricular (LV) systolic function and higher LV mass] was evident in relation to carrier status for the V122I TTR variant, leading to elevated risk of incident HF. In people with V122I TTR, midlife screening using echocardiography may not only prognosticate risk of symptomatic HF but also inform prophylactic strategies.

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