Brachydactyly - arterial hypertension
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Brachydactyly - arterial hypertension syndrome is characterised by the association of brachydactyly and hypertension.
Pathophysiology
Magnetic resonance imaging (MRI) in 15 patients with this syndrome demonstrated loops in the posterior and inferior cerebellar arteries in all affected individuals (but not in the unaffected members of the kindred) that may lead to neurovascular compression and be responsible for the hypertension.
Genetics
The causative gene is dominantly inherited and has been mapped to chromosome 12p (region 12p12.2-p11.2). The hypertension is severe but responds to antihypertensive drugs. Without treatment, affected individuals often die of a stroke before the age of 50.
Differentiating Brachydactyly - arterial hypertension from other Diseases
The condition resembles an essential hypertension as the activity of the renin-angiotensin system and sympathetic nervous system is normal and the hypertension is salt-insensitive. Hypertensive retinopathy is rarely found.
Epidemiology and Demographics
It is a rare disease that has been described in less than 100 patients belonging to less than 10 families. Most of the reported patients were Turkish, from a small area on the North-eastern Black Sea coast, but the syndrome has also been described in Japanese, US and Canadian families.
Diagnosis
- Hypertension
- Brachydactyly is of the type E form, mainly affecting the metacarpals.
- Phalanges might be normal or shortened.
- The syndrome usually is associated with short proportionate stature.