Hypertension and brachydactyly syndrome

Hypertension and brachydactyly syndrome (HTNB), also known as Bilginturan syndrome and brachydactyly type E among others, is a very rare genetic disorder.[1][2]

Hypertension and brachydactyly syndrome
Other namesBrachydactyly-arterial hypertension syndrome
This condition is inherited in an autosomal dominant manner.

It was first reported in 1973 by N. Bilginturan et al.[3][4] The estimated prevalence is less than 1 out of 1,000,000.[2]

Symptoms

The disorder is characterized by:

  • severe salt-independent but age-dependent hypertension
  • brachydactyly malformations of the hands and fingers
  • increased fibroblast growth rate
  • neurovascular contact at the rostral-ventrolateral medulla
  • altered baroreflex blood pressure regulation
  • death from stroke before age 50 years when untreated

Genetics

The disorder is thought to be related to mutations in the PDE3A gene.[1][5]

References
  1. "HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB". www.omim.org. Retrieved 2017-01-19.
  2. "Brachydactyly arterial hypertension syndrome". www.orpha.net. Retrieved 2017-01-19.
  3. Chitayat, D.; Grix, A.; Balfe, J. W.; Abramowicz, J. S.; Garza, J.; Fong, C. T.; Silver, M. M.; Saller, D. N.; Bresnick, G. H. (1997-12-19). "Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families". American Journal of Medical Genetics. 73 (3): 279–285. doi:10.1002/(SICI)1096-8628(19971219)73:3<279::AID-AJMG10>3.0.CO;2-G. ISSN 0148-7299. PMID 9415685.
  4. Bilginturan, N.; Zileli, S.; Karacadag, S.; Pirnar, T. (1973-09-01). "Hereditary Brachydactyly Associated with Hypertension". Journal of Medical Genetics. 10 (3): 253–259. doi:10.1136/jmg.10.3.253. ISSN 0022-2593. PMC 1013029. PMID 4774535.
  5. Maass, Philipp G.; Aydin, Atakan; Luft, Friedrich C.; Schächterle, Carolin; Weise, Anja; Stricker, Sigmar; Lindschau, Carsten; Vaegler, Martin; Qadri, Fatimunnisa (2015-06-01). "PDE3A mutations cause autosomal dominant hypertension with brachydactyly" (PDF). Nature Genetics. 47 (6): 647–653. doi:10.1038/ng.3302. hdl:11655/14301. ISSN 1546-1718. PMID 25961942. S2CID 26654257.
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