The p.Val142Ile variant has a 3% to 3.5% prevalence among people of African descent in large studies and is associated with worse quality of life and lower survival than other types of ATTR-CM.
Systematic Review (n=150,000)
What is the prevalence and clinical outcome of p.Val142Ile variant transthyretin amyloidosis cardiomyopathy among subjects of African descent?
The p.Val142Ile variant is common among people of African descent (3-3.5% prevalence) and is associated with increased incident heart failure and lower overall survival compared to other forms of transthyretin amyloidosis cardiomyopathy.
BACKGROUND: The p.Val142Ile variant, predominantly found among people of African descent, is the most common cause of variant transthyretin amyloidosis and carriers predominantly develop a cardiomyopathy (variant transthyretin amyloidosis cardiomyopathy) phenotype. Yet, there are conflicting data on the prevalence and outcomes of p.Val142Ile variant carriers. METHODS: We performed a systematic review of the prevalence and outcomes of p.Val142Ile variant transthyretin amyloidosis cardiomyopathy among subjects of African descent. We found 62 relevant articles after searching the MEDLINE databases from 1980 to 2020 that reported data for ≈150 000 subjects. RESULTS: The reported worldwide prevalence of the p.Val142Ile variant is 0.3% to 1.6% in the general population. Among people of African descent, the reported prevalence from all studies ranges from 1.1% to 9.8%, but for studies with >1000 subjects, it is 3% to 3.5%. The prevalence of the p.Val142Ile variant in a region is dependent on the reported percentage of subjects who are of African descent in that region. p.Val142Ile variant transthyretin amyloidosis cardiomyopathy typically presents in the seventh to eighth decade of life and the majority of cases reported were male, with 25% to 38% diagnosed with atrial fibrillation. It was associated with a longitudinally worse quality of life and a lower adjusted survival compared with other types of transthyretin amyloidosis cardiomyopathy. CONCLUSIONS: The p.Val142Ile variant is the most common variant of the transthyretin gene with most carriers being of African descent. The true penetrance is unknown but the p.Val142Ile variant is associated with increased rates of incident heart failure and portends a lower overall survival. Increased awareness could lead to earlier diagnosis and improved heart failure outcomes among those of African descent, which is of increasing importance given the advent of novel therapeutics for this disease.
Chandrashekar et al. (Tue,) conducted a systematic review in p.Val142Ile variant transthyretin amyloidosis cardiomyopathy (n=150,000). p.Val142Ile variant vs. Other types of transthyretin amyloidosis cardiomyopathy was evaluated on Prevalence and outcomes. The p.Val142Ile variant has a 3% to 3.5% prevalence among people of African descent in large studies and is associated with worse quality of life and lower survival than other types of ATTR-CM.
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