Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective
Population
186 patients with hereditary transthyretin-related amyloidosis, 30 patients with senile systemic…
Design
Cohort
Follow-up
36 months (range: 14-50) for a subset
Authors
Discussion
Loading...
Member takes
Implication
May prompt ATTR evaluation in unexplained LVH; extends phenotypic spectrum but requires prospective validation before changing practice.
Key Points
- The study aims to evaluate the phenotypic and genotypic characteristics of hereditary transthyretin-related amyloidosis with a focus on the exclusively cardiac phenotype.
- Characterized 186 patients with hereditary transthyretin-related amyloidosis in an Italian multicenter setting.
- Compared findings with 30 patients each of senile systemic amyloidosis and hypertrophic cardiomyopathy.
- Categorized phenotypes as exclusively cardiac, exclusively neurologic, or mixed.
- 31 patients (17%) were identified with an exclusively cardiac phenotype, characterized by heart failure symptoms and left ventricular hypertrophy.
- Findings of the exclusively cardiac phenotype were similar to senile systemic amyloidosis but distinct from hypertrophic cardiomyopathy.
- More pronounced cardiac involvement was noted in the exclusively cardiac phenotype compared to mixed phenotype patients.
Structured PICO
P
Population
186 patients with hereditary transthyretin-related amyloidosis (ATTR), 30 patients with senile systemic amyloidosis (SSA), and 30 age-gender-matched hypertrophic cardiomyopathy (HCM) patients
C
Comparator
Senile systemic amyloidosis (SSA) and hypertrophic cardiomyopathy (HCM) patients
O
Outcome
Phenotypic and genotypic spectra of ATTR, prevalence of exclusively cardiac phenotype, and differential diagnosis features
A clinically relevant subset of Caucasian ATTR patients presents with an exclusively cardiac phenotype that mimics SSA and can be differentiated from HCM using echocardiographic and ECG findings.
Cite This Study
Rapezzi et al. (2012) studied this question.