Comparative Analysis of the Autonomic Profile Between Patients With Hereditary Amyloidotic Cardiomyopathy Caused by Transthyretin and Patients With Transthyretin Gene Mutation, Without Cardiomyopathy

Transthyretin amyloidosis exhibits a variety of possible phenotypes, the hereditary neurological form being the most commonly found and studied (familial amyloidotic polyneuropathy or FAP), which can present from oligosymptomatic patients to patients with peripheral sensorimotor polyneuropathy of varying degrees and dysautonomia.

Although a specific mutation usually causes a specific phenotype, that is, with a predominantly cardiac or preferential neurological profile, with the increase in the number of diagnosed cases, an overlapping of clinical presentations has been observed.

The assessment of the autonomic profile in individuals with familial amyloidotic cardiomyopathy (FAC) has not been well studied, and it is not known whether patients with an exclusively cardiac profile of the disease may present dysautonomia or whether even mutation carriers without cardiac involvement may exhibit it.

In this study, the autonomic profiles of patients with familial amyloidotic heart disease will be compared with the profiles of patients who have mutations but without established heart disease and healthy individuals (control group).