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You can access the article in the following link:
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I would like to thank all the collaborators in this project and the Spanish section of ICC ( @secardiologia.bsky.social ) for providing funding to develop it through the Dr. William J. McKenna research grant.

This study represents the largest cohort of patients with Val142Ile ATTRv with European ancestry provinding deeper knowledge about this entity

A query to national biobanks revealed a general population frequency ranging from 0.0 to 0.12% in line with previous reports from southern European populations, suggesting that ATTRv Val142Ile might be more relevant that previously expected in southern European countries.

A closer look at geographical distribution of patients showed a scattered distribution across the country which does not suggest an endemic hotspot despite cases were more prevalent in the Mediterranean Basin.

Tafamidis was initiated in 38 patients during follow-up (73.7% 20 mg & 26.3% 61 mg). After 1 year of treatment, 14 patients (38.9%) met the combined endpoint, with 12 cases attributed to disease progression (NTProBNP or diuretic increase) and 2 cases to cardiovascular death.

The phenotypic characteristics observed in our cohort were similar to those reported in patients of African ancestry previously published including late age of onset, male predominance and cardiomyopathy involvement over neurologic or ophthalmologic involvement.

🚀A step increase in new diagnosis was described in recent years probably coupled with an increased disease of ATTR-CM among cardiologist.

The final cohort was comprised by 164 participants including 75 probands and 89 relatives. To our surprise, only 8% of probands reported African ancestry whereas 89% had European (Spanish) ancestry.

To describe its impact in the Spanish population, we designed a retrospective study involving 18 centers with expertise in ATTR across the country.

Despite the Val142Ile variant has been widely described in ATTRv patients with African ancestry there are recent reports from patients with European and Asian ancestry suggesting a broader extension of the disease.