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hATTR-CM is inherited in an autosomal dominant pattern, meaning only 1 affected relative is required to pass on the mutation.2 The most common mutations responsible for a cardiac phenotype are in patients of African American (V122I), Irish (T60A), Italian (I68L), and Danish (L111M) descent.3
About 75% of patients with hATTR-CM exhibited cardiomyopathic features of the disease.3
Carpal tunnel syndrome is also common and can often be the initial symptom in more than 30% of hATTR-CM patients, with cardiomyopathy symptoms following as the disease progresses.5
Penetrance data has shown great heterogeneity of the disease, depending on the phenotype, genotype, and environmental factors.6
Advanced hATTR-CM in untreated patients is associated with rapid progression, serious cardiac complications, and increased mortality, regardless of phenotype.7,11,14
Early recognition of cardiac involvement in hereditary amyloidosis is critical15
Diagnosis of hATTR-CM in an index patient should prompt genetic counselling and testing of relatives.10
A targeted approach may enable diagnosis of disease at the first detectable sign or symptom10:
Timing of genetic testing in at-risk relatives should take into account10:
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PP-UNP-IRL-0176. January 2023