Observational studyBMC cardiovascular disorders2025
The phenotypic landscape of p.Ala117Ser transthyretin amyloidosis: distinct clinical profiles and outcomes versus wild-type ATTR.
Observational study in BMC cardiovascular disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundThis study aimed to (1) compare the clinical phenotype and outcomes of patients with transthyretin amyloidosis (ATTR) harboring the p.Ala117Ser variant versus those with wild-type ATTR (wtATTR), and (2) delineate the clinical spectrum of ATTR at our institution.
methodsWe conducted a single-center observational study of 43 consecutive symptomatic ATTR patients and 7 asymptomatic carriers of pathogenic ATTR variants. All underwent structured evaluation in the cardiomyopathy (CM) clinic. The primary endpoint was a composite of all-cause mortality or heart/heart-liver transplantation.
resultsAmong the 50 patients enrolled with ATTR, hereditary ATTR (hATTR) accounted for 53%. Within the hATTR group, the p.Ala117Ser variant was the most frequently identified pathogenic variant, representing 40% of cases. Of the 43 symptomatic patients, 41 (95%) were diagnosed with ATTR-CM. Symptomatic p.Ala117Ser patients were younger, had universal neuropathy, and exhibited less advanced cardiac involvement compared with wtATTR. Three-year event-free survival was higher in p.Ala117Ser patients, remaining significant after excluding asymptomatic carriers (log-rank p = 0.006). Univariate predictors of adverse outcomes included wtATTR, prior heart failure hospitalization, elevated NT-proBNP, older age, increased wall thickness, and higher NYHA class. Multivariate analysis identified p.Ala117Ser variant as independently associated with improved outcomes (HR 0.23, 95% CI 0.06-0.95).
conclusionsThe p.Ala117Ser variant emerged as the most common hATTR in our cohort. Symptomatic carriers were younger, had universal neuropathy (100%), had less advanced cardiac disease, and demonstrated superior survival and transplant-free outcomes compared with wtATTR. These findings highlight the value of genotype-guided evaluation and the potential for precision therapies tailored to regional TTR variants.
trial registrationClinical Trial Number: Not Applicable.
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