What is the clinical evidence from this study?

Study design: Observational. Population: Transthyretin amyloidosis (ATTR) (n=2530). Intervention: United States residence vs. Rest of the world. Primary outcome: Mortality.

What question did this study set out to answer?

This study aimed to characterize the genotype and phenotype of Transthyretin Amyloidosis (ATTR) in the United States, focusing on cardiac involvement.

May 15, 2026Journal of the American College of CardiologyOpen Access

Genotype and Phenotype of Transthyretin Cardiac Amyloidosis

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Key result

US transthyretin amyloidosis patients are significantly older and predominantly male compared to the rest of the world.

n=2,530

Key Points

This study aimed to characterize the genotype and phenotype of Transthyretin Amyloidosis (ATTR) in the United States, focusing on cardiac involvement.
Compared data from 390 patients in the THAOS registry in the U.S. with 2,140 patients from other regions.
Examined demographic, clinical, and genetic features, specifically for Val122Ile and wild-type variants.
Conducted multivariate analysis to assess survival factors.
U.S. subjects are significantly older (70 vs. 46 years), predominantly male (85.4% vs. 50.6%), and of African descent (25.4% vs. 0.5%).
The prevalence of wild-type ATTR in U.S. cardiology sites is higher (50.5% vs. 26.2% in ROW).
Advancing age and lower mean arterial pressure are independently associated with higher mortality, regardless of the presence of a transthyretin mutation.

Study Design

Type

Observational (n=2,530)

Multicenter

Yes

Structured PICO

Population

2,530 patients with transthyretin amyloidosis enrolled in the THAOS registry, comparing demographic, clinical, and genetic features between the United States and the rest of the world.

Outcome

Phenotypic expression and survivalhard clinical

Discussion

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Implication

In the US, ATTR is predominantly a disorder of older males with a cardiac phenotype, with Val122Ile being the most common mutation, though mutation presence does not independently affect survival.

Cite This Study

Maurer et al. (2016) conducted an observational in Transthyretin amyloidosis (ATTR) (n=2,530). United States residence vs. Rest of the world was evaluated on Mortality. Patients with transthyretin amyloidosis in the United States were older (70 vs. 46 years) and more often male (85.4% vs. 50.6%) than those in the rest of the world.

synapsesocial.com/papers/6a078dc8d9ec3070f22dd5f7 https://doi.org/10.1016/j.jacc.2016.03.596

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Implication

In the US, ATTR is predominantly a disorder of older males with a cardiac phenotype, with Val122Ile being the most common mutation, though mutation presence does not independently affect survival.

Genotype and Phenotype of Transthyretin Cardiac Amyloidosis

Key Points

Study Design

Structured PICO

Discussion

Implication

Cite This Study

Genotype and Phenotype of Transthyretin Cardiac Amyloidosis

Key Points

Study Design

Structured PICO

Discussion

Implication

Cite This Study

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Also Consider