Hypertension and Brachydactyly Syndrome

Phosphodiesterase 3A (PDE3A) gene mutations have recently been associated with hypertension and brachydactyly syndrome (HTNB). This report shows how the recent recognition of the role of the PDE3A gene in HTNB facilitated the diagnosis of HTNB in a 20-year-old female who could not be diagnosed at he...

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Bibliographic Details
Published in:JACC. Case reports 2024-06, Vol.29 (11), p.102343, Article 102343
Main Authors: Shahid, Abdulla, Shetty, Naman S., Patel, Nirav, McClinchey, Taylor, Arora, Garima, Arora, Pankaj
Format: Article
Language:English
Subjects:
bicuspid aortic valve
Bilginturan syndrome
brachydactyly
hypertension
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Summary:Phosphodiesterase 3A (PDE3A) gene mutations have recently been associated with hypertension and brachydactyly syndrome (HTNB). This report shows how the recent recognition of the role of the PDE3A gene in HTNB facilitated the diagnosis of HTNB in a 20-year-old female who could not be diagnosed at her initial presentation at 6 years of age. [Display omitted]
ISSN:2666-0849
2666-0849
DOI:10.1016/j.jaccas.2024.102343