Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

ABSTRACT:

Purpose

Orthostatic hypotension is a common condition with heterogeneous and, in many cases, unclear underlying pathophysiology. Frequent symptoms are syncope and falls with a strong impact on daily life. A two-generation family with eight individuals segregating early-onset severe orthostatic hypotension with persistent tachycardia in upright position and repeated faints was identified. Our aim was to elucidate the underlying pathophysiology.

Methods

One severely affected individual underwent thorough investigation with neurophysiological and blood pressure (BP) measurements, including direct recording of baroreflex-governed sympathetic nerve signalling and induction of BP rise with phenylephrine. Family members underwent parts of the examination. Genetic analysis using exo

SUBMITTER: Fagius J 

PROVIDER: S-EPMC10439023 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature