Syncope as a Phenotypic Expression of Hereditary Transthyretin Amyloidosis Val142Ile (Val122Ile)

Introduction

Transthyretin amyloidosis (ATTR) is a familial disease caused by one of more than 100 described mutations, where there is production of amyloids that are deposited in tissues. Phenocopies include neuropathy (autonomic and peripheral), cardiomyopathy, renal, gastrointestinal, vitreous and meningeal involvement, which vary according to the genetic mutation, ethnicity and geographical origin, even among individuals with the same mutation or within the same family.

Syncope (transient loss of consciousness caused by global cerebral hypoperfusion) in the presence of heart disease confers risk of fatal events. The Val142Ile mutation has heart failure with preserved ejection fraction (HFpEF) as the predominant clinical phenotype, with syncope being an uncommon symptom.^,

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