Phenotypic Profile of Ile68Leu Transthyretin Amyloidosis: An Underdiagnosed Cause of Heart Failure
Population
67 patients with Ile68Leu transthyretin-related hereditary amyloidosis, 82 patients with wild-type…
Design
Cohort
Authors
Discussion
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Member takes
Implication
May prompt earlier neuro evaluation in younger cardiac amyloid patients; extends variant-specific ATTRm data but remains hypothesis-generating.
Structured PICO
P
Population
67 patients with Ile68Leu transthyretin-related hereditary amyloidosis (ATTRm), 82 patients with wild-type transthyretin amyloidosis (ATTRwt), and 55 unaffected mutation carriers from two Italian referral centres.
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Comparator
Patients with wild-type transthyretin amyloidosis (ATTRwt)
O
Outcome
Phenotypic characteristics and age-adjusted survival
Ile68Leu ATTRm presents as a hypertrophic/restrictive cardiomyopathy similar to ATTRwt, but patients typically present at a younger age and have more frequent mild neurological involvement.
Cite This Study
Gagliardi et al. (2018) studied this question.