Hypertension and Brachydactyly Syndrome

Abdulla Shahid, BS, Naman S. Shetty, MD,Nirav Patel, MD, MSPH, Taylor McClinchey, MS,Garima Arora, MD,Pankaj Arora, MD

JACC: Case Reports（2024）

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摘要

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.

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关键词

bicuspid aortic valve,Bilginturan syndrome,brachydactyly,hypertension

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