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

Autor: Fagius J; Department of Medical Sciences/Neurology and Clinical Neurophysiology, Faculty of Medicine, Uppsala University, Uppsala, Sweden. jan.fagius@neuro.uu.se., Klar J; Department of Immunology, Genetics and Pathology/Genetics, Faculty of Medicine, Uppsala University, Uppsala, Sweden., Dahl N; Department of Immunology, Genetics and Pathology/Genetics, Faculty of Medicine, Uppsala University, Uppsala, Sweden.
Jazyk: angličtina
Zdroj: Clinical autonomic research : official journal of the Clinical Autonomic Research Society [Clin Auton Res] 2023 Aug; Vol. 33 (4), pp. 421-432. Date of Electronic Publication: 2023 Jul 17.
DOI: 10.1007/s10286-023-00963-9
Abstrakt: 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 exome sequencing was performed.
Results: Marked postural hypotension with greatly reduced cardiac preload was observed, but without signs of autonomic nervous system dysfunction: sympathetic nerve signalling was normal, as were catecholamine levels, and phenylephrine stimulation revealed a normal increase in BP. The results of the genetic analysis using exome sequencing comprising all known genes associated with the regulation of BP and catecholamine metabolism were normal.
Conclusion: The combined findings suggest an autosomal dominant form of early-onset orthostatic hypotension with variable clinical expression and without any additional autonomic dysfunction. It is possible that further investigation will reveal an as yet undescribed entity of orthostatic hypotension transmitted as an autosomal dominant trait.
(© 2023. The Author(s).)
Databáze: MEDLINE
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